51168[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 1 to 100 of 1743

<< First< Prev

Page of 18

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1480881.	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3 GRCh37: Chr17:15113717-18184130 GRCh38: Chr17:15210400-18280816	ATPAF2, CCDC144A, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, FAM106C, FBXW10B, FLCN, FLII, GID4, LINC02087, LINC02090, LLGL1, LOC105371566, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR4731, MIR6777, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RAI1-AS1, RASD1, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7, ADORA2B, ALKBH5		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 581042.	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 GRCh37: Chr17:15138002-20524013 GRCh38: Chr17:15234685-20620700	ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FBXW10B, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02087, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC105943587, LOC106020709, LOC106020710, LOC106020711, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR4731, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ULK2, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 581073.	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 GRCh37: Chr17:15162481-20828612 GRCh38: Chr17:15259164-20925299	ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CCDC144NL-AS1, CDRT15L2, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FBXW10B, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02087, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC105943587, LOC106020709, LOC106020710, LOC106020711, LOC106020712, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ULK2, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1539904.	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 GRCh37: Chr17:15455676-18917513 GRCh38: Chr17:15552362-19014200	ADORA2B, ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FBXW10B, FLCN, FLII, FOXO3B, GID4, LGALS9C, LINC02076, LINC02087, LINC02090, LLGL1, LOC105371566, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC126862514, LOC126862515, LOC126862516, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, SHMT1, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16, TRIM16L, TRPV2, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Nov 5, 2013)	no assertion criteria provided
Select item 1554185.	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 GRCh37: Chr17:15633207-20413564 GRCh38: Chr17:15729893-20510251	ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02087, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020711, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Jun 25, 2013)	no assertion criteria provided
Select item 569966.	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 GRCh37: Chr17:15680229-18675066 GRCh38: Chr17:15776915-18771753	ADORA2B, ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, EVPLL, FAM106A, FAM106C, FBXW10, FLCN, FLII, FOXO3B, GID4, LGALS9C, LINC02076, LINC02087, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC106020711, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862514, LOC126862515, LOC126862516, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TRPV2, TTC19, UBB, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1555837.	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 GRCh37: Chr17:15754173-20552548 GRCh38: Chr17:15850859-20649235	ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Oct 22, 2013)	no assertion criteria provided
Select item 1551108.	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 GRCh37: Chr17:15786351-20561331 GRCh38: Chr17:15883037-20658018	ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Dec 10, 2012)	no assertion criteria provided
Select item 1506919.	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 GRCh37: Chr17:15786351-20524013 GRCh38: Chr17:15883037-20620700	ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Jun 20, 2011)	no assertion criteria provided
Select item 5701810.	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 GRCh37: Chr17:15801346-20524013 GRCh38: Chr17:15898032-20620700	AKAP10, CDRT15L2, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, FAM106A, EVPLL, ADORA2B, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CENPV, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 6042911.	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1 GRCh37: Chr17:15855385-18266133 GRCh38: Chr17:15952071-18362819	ADORA2B, ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, FAM106C, FLCN, FLII, GID4, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862514, LOC126862515, LOC126862516, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TNFRSF13B, TOM1L2, TOP3A, TRPV2, TTC19, UBB, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 6043312.	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1 GRCh37: Chr17:16021199-18266133 GRCh38: Chr17:16117885-18362819	ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, FAM106C, FLCN, FLII, GID4, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587578, LOC121587579, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862514, LOC126862515, LOC126862516, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TNFRSF13B, TOM1L2, TOP3A, TRPV2, UBB, ZNF287, ZNF624		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15564813.	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 GRCh37: Chr17:16329947-20901901 GRCh38: Chr17:16426633-20998588	SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TVP23B, ULK2, ZNF287, ZNF624, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CCDC144NL-AS1, CDRT15L2, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC106020712, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC125177440, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC339260, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD3A, SNORD3B-1		See cases	Pathogenic (Mar 10, 2014)	no assertion criteria provided
Select item 15074314.	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 GRCh37: Chr17:16559476-20294010 GRCh38: Chr17:16656162-20390697	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 5811015.	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 GRCh37: Chr17:16559482-20294038 GRCh38: Chr17:16656168-20390725	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5811316.	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 GRCh37: Chr17:16595776-20294038 GRCh38: Chr17:16692462-20390725	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15531417.	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 GRCh37: Chr17:16600022-20396173 GRCh38: Chr17:16696708-20492860	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Mar 24, 2014)	no assertion criteria provided
Select item 15150618.	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 GRCh37: Chr17:16603008-20433959 GRCh38: Chr17:16699694-20530646	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Apr 30, 2011)	no assertion criteria provided
Select item 15511419.	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 GRCh37: Chr17:16603130-20331605 GRCh38: Chr17:16699816-20428292	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Jan 9, 2013)	no assertion criteria provided
Select item 15226120.	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 GRCh37: Chr17:16603130-20395527 GRCh38: Chr17:16699816-20492214	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Apr 4, 2013)	no assertion criteria provided
Select item 14891221.	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1 GRCh37: Chr17:16603130-20294038 GRCh38: Chr17:16699816-20390725	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Nov 21, 2011)	no assertion criteria provided
Select item 5811522.	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 GRCh37: Chr17:16616828-20485840 GRCh38: Chr17:16713514-20582527	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5812623.	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 GRCh37: Chr17:16616829-20243755 GRCh38: Chr17:16713515-20340442	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15535024.	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 GRCh37: Chr17:16621729-20449523 GRCh38: Chr17:16718415-20546210	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (May 7, 2013)	no assertion criteria provided
Select item 14675525.	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 GRCh37: Chr17:16637872-20294010 GRCh38: Chr17:16734558-20390697	SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A		See cases	Pathogenic (Oct 30, 2010)	no assertion criteria provided
Select item 14675426.	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 GRCh37: Chr17:16637872-20294010 GRCh38: Chr17:16734558-20390697	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 15491927.	GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1 GRCh37: Chr17:16637902-18738016 GRCh38: Chr17:16734588-18834703	ALKBH5, ATPAF2, CCDC144A, COPS3, DRC3, DRG2, EVPLL, FAM106A, FAM106C, FBXW10, FLCN, FLII, FOXO3B, GID4, LGALS9C, LINC02076, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862515, LOC126862516, LOC284191, MED9, MIEF2, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B		See cases	Pathogenic (Sep 17, 2012)	no assertion criteria provided
Select item 14782128.	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 GRCh37: Chr17:16637902-20219464 GRCh38: Chr17:16734588-20316151	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 14775629.	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 GRCh37: Chr17:16637902-20294038 GRCh38: Chr17:16734588-20390725	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Dec 19, 2014)	no assertion criteria provided
Select item 14649230.	GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1 GRCh37: Chr17:16637902-18236686 GRCh38: Chr17:16734588-18333372	ALKBH5, ATPAF2, CCDC144A, COPS3, DRC3, DRG2, FAM106C, FLCN, FLII, GID4, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC113939958, LOC121587578, LOC121587579, LOC121852924, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862515, LOC126862516, LOC284191, MED9, MIEF2, MIR33B, MIR6777, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SREBF1, TNFRSF13B, TOM1L2, TOP3A		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 5812731.	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 GRCh37: Chr17:16664131-20333083 GRCh38: Chr17:16760817-20429770	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 6043732.	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 GRCh37: Chr17:16664132-20294038 GRCh38: Chr17:16760818-20390725	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5812833.	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 GRCh37: Chr17:16664132-20408162 GRCh38: Chr17:16760818-20504849	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 54521834.	NC_000017.11:g.(?_16770855)_(20585863_?)del GRCh38: Chr17:16770855-20585863	EPN2-IT1, EVPLL, FAM106A, LOC125177431, LOC125177432, LOC125177433, RNF112, SHMT1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SPECC1, SREBF1, SNORD3C, SNORD3D, LOC125177434, LOC125177435, MFAP4, MIEF2, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862517, LOC284191, LINC02090, LINC02094, LLGL1, LOC102724624, MAPK7, MED9, LOC126862515, LOC126862516, LOC388436, SLC47A1, FAM106B, FAM106C, LGALS9B, LGALS9C, LOC105371566, LOC105371574, LOC106020709, LOC106020710, FAM83G, FBXW10, GRAPL-AS1, LINC02076, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		Autism	Pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 54521735.	Single allele GRCh38: Chr17:16770855-20422847	GRAPL-AS1, LOC126862515, LOC126862516, SNORD3A, SNORD3B-1, SNORD3B-2, TRIM16L, TRW-CCA2-1, TVP23B, ULK2, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, LOC126862517, LOC284191, LOC388436, MYO15A, NT5M, MFAP4, MIEF2, MIR1180, MIR33B, MIR6778, MPRIP, PEMT, PLD6, LOC112529900, LOC113939958, LOC121587578, MAPK7, MED9, MIR6777, SNORD3C, SNORD3D, SPECC1, LGALS9C, LINC02094, LLGL1, AKAP10, ALDH3A1, ALKBH5, ATPAF2, ALDH3A2, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LINC02076, LINC02090, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B		Autism	Pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 6043936.	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1 GRCh37: Chr17:16720871-18266133 GRCh38: Chr17:16817557-18362819	ALKBH5, ATPAF2, COPS3, DRC3, DRG2, FLCN, FLII, GID4, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC113939958, LOC121587578, LOC121587579, LOC121852924, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862515, LOC126862516, LOC284191, MED9, MIEF2, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SREBF1, TNFRSF13B, TOM1L2, TOP3A		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 6045537.	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 GRCh37: Chr17:16740141-20368380 GRCh38: Chr17:16836827-20465067	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5813238.	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 GRCh37: Chr17:16740141-20408162 GRCh38: Chr17:16836827-20504849	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5813139.	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 GRCh37: Chr17:16740141-20243755 GRCh38: Chr17:16836827-20340442	PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15367140.	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 GRCh37: Chr17:16741411-20339728 GRCh38: Chr17:16838097-20436415	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 5, 2013)	no assertion criteria provided
Select item 15552941.	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 GRCh37: Chr17:16756434-20339795 GRCh38: Chr17:16853120-20436482	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Sep 18, 2013)	no assertion criteria provided
Select item 15031942.	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 GRCh37: Chr17:16757564-20463361 GRCh38: Chr17:16854250-20560048	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020710, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 2, 2012)	no assertion criteria provided
Select item 14920343.	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 GRCh37: Chr17:16757564-20395527 GRCh38: Chr17:16854250-20492214	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Mar 26, 2012)	no assertion criteria provided
Select item 14506544.	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 GRCh37: Chr17:16757564-20395482 GRCh38: Chr17:16854250-20492169	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 6045745.	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 GRCh37: Chr17:16761758-20368380 GRCh38: Chr17:16858444-20465067	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 6045646.	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 GRCh37: Chr17:16761758-20243755 GRCh38: Chr17:16858444-20340442	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15514347.	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 GRCh37: Chr17:16761814-20462650 GRCh38: Chr17:16858500-20559337	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020710, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Mar 4, 2013)	no assertion criteria provided
Select item 15382248.	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 GRCh37: Chr17:16761814-20474268 GRCh38: Chr17:16858500-20570955	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020710, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Sep 23, 2013)	no assertion criteria provided
Select item 14421349.	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 GRCh37: Chr17:16782546-20219464 GRCh38: Chr17:16879232-20316151	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (May 27, 2010)	no assertion criteria provided
Select item 5722450.	GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3 GRCh37: Chr17:16782546-18874254 GRCh38: Chr17:16879232-18970941	ALKBH5, ATPAF2, COPS3, DRC3, DRG2, EVPLL, FAM106A, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, LGALS9C, LINC02076, LINC02090, LLGL1, LOC105371566, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862515, LOC126862516, LOC284191, MED9, MIEF2, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, SHMT1, SLC5A10, SMCR2, SMCR5, SMCR8, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5703551.	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 GRCh37: Chr17:16782546-20294038 GRCh38: Chr17:16879232-20390725	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5703452.	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 GRCh37: Chr17:16782546-20294038 GRCh38: Chr17:16879232-20390725	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14675353.	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 GRCh37: Chr17:16782547-20294010 GRCh38: Chr17:16879233-20390697	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC