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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1489421.	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 GRCh37: Chr3:73914-30105699 GRCh38: Chr3:32241-30064208	ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CMC1, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, DAZL, DPH3, EAF1, EDEM1, EFHB, EGOT, EMC3, EMC3-AS1, EOMES, FANCD2, FANCD2OS, FBLN2, FGD5, FGD5-AS1, GALNT15, GHRL, GHRLOS, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01980, LINC01981, LINC02011, LINC02022, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927829, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC111365223, LOC111429626, LOC111465009, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC401052, LRRC3B, LRRC3B-AS1, LRRN1, LSM3, METTL6, MIR12127, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR4790, MIR4791, MIR4792, MIR563, MIR885, MKRN2, MKRN2OS, MRPS25, MTMR14, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OXNAD1, OXSM, OXTR, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, RPUSD3, SATB1, SATB1-AS1, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TOP2B, TRNT1, TSEN2, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, VGLL4, VHL, WNT7A, XPC, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2		See cases	Pathogenic (Dec 16, 2011)	no assertion criteria provided
Select item 1488762.	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 GRCh37: Chr3:73914-20375879 GRCh38: Chr3:32241-20334387	TRNT1, TSEN2, TTLL3, VGLL4, VHL, WNT7A, XPC, ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, DAZL, DPH3, EAF1, EDEM1, EFHB, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, FBLN2, FGD5, FGD5-AS1, GALNT15, GHRL, GHRLOS, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00852, LINC01266, LINC01267, LINC02011, LINC02022, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC105376975, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC111429626, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC401052, LRRN1, LSM3, METTL6, MIR12127, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4790, MIR4791, MIR563, MIR885, MKRN2, MKRN2OS, MRPS25, MTMR14, NR2C2, NUP210, OGG1, OXNAD1, OXTR, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RBSN, RFTN1, RPL32, RPUSD3, SATB1, SATB1-AS1, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43		See cases	Pathogenic (Nov 11, 2011)	no assertion criteria provided
Select item 573973.	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 GRCh37: Chr3:93949-37189567 GRCh38: Chr3:52266-37148076	ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ARPP21, ATG7, ATP2B2, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CCR4, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, CRTAP, DAZL, DCLK3, DPH3, DYNC1LI1, EAF1, EDEM1, EFHB, EGOT, EMC3, EMC3-AS1, EOMES, EPM2AIP1, FANCD2, FANCD2OS, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GHRL, GHRLOS, GLB1, GPD1L, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC111365150, LOC111365223, LOC111429626, LOC111465009, LOC111501778, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC401052, LRRC3B, LRRC3B-AS1, LRRFIP2, LRRN1, LSM3, METTL6, MIR12127, MIR128-2, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR466, MIR4790, MIR4791, MIR4792, MIR548AY, MIR563, MIR885, MKRN2, MKRN2OS, MLH1, MRPS25, MTMR14, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXTR, PDCD6IP, PDCD6IP-DT, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, RPUSD3, SATB1, SATB1-AS1, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, STAC, STT3B, SUMF1, SUSD5, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TRNT1, TSEN2, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, VGLL4, VHL, WNT7A, XPC, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF860		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1534154.	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 GRCh37: Chr3:94991-41423012 GRCh38: Chr3:53308-41381521	ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARL8B, ARPC4, ARPC4-TTLL3, ARPP21, ATG7, ATP2B2, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CCR4, CCR8, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, CRTAP, CSRNP1, CTDSPL, CTNNB1, CX3CR1, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EDEM1, EFHB, EGOT, EIF1B, EIF1B-AS1, EMC3, EMC3-AS1, ENTPD3, ENTPD3-AS1, EOMES, EPM2AIP1, EXOG, FANCD2, FANCD2OS, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GHRL, GHRLOS, GLB1, GOLGA4, GOLGA4-AS1, GORASP1, GPD1L, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITGA9, ITGA9-AS1, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365149, LOC111365150, LOC111365223, LOC111429626, LOC111465007, LOC111465009, LOC111501778, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC112935931, LOC112935932, LOC112935933, LOC112935934, LOC112935935, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121009658, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, LOC121725140, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC122889070, LOC122889071, LOC122889072, LOC122889073, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC126806650, LOC126806651, LOC126806652, LOC126806653, LOC126806654, LOC126806655, LOC126806656, LOC126806657, LOC126806658, LOC126806659, LOC401052, LRRC3B, LRRC3B-AS1, LRRFIP2, LRRN1, LSM3, METTL6, MIR12127, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR466, MIR4790, MIR4791, MIR4792, MIR548AY, MIR563, MIR6822, MIR885, MKRN2, MKRN2OS, MLH1, MOBP, MRPS25, MTMR14, MYD88, MYRIP, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, OXTR, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL14, SCN10A, RPL15, RPL32, RPSA, RPUSD3, SATB1, SATB1-AS1, SCN11A, SCN5A, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC25A38, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA6, SNORA62, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, STAC, STT3B, SUMF1, SUSD5, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TRNT1, TSEN2, TTC21A, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, ULK4, VGLL4, VHL, VILL, WDR48, WNT7A, XIRP1, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF619, ZNF620, ZNF621, ZNF860		See cases	Pathogenic (Jun 4, 2013)	no assertion criteria provided
Select item 579775.	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 GRCh37: Chr3:105526-19552092 GRCh38: Chr3:63843-19510600	ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, DAZL, DPH3, EAF1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, FBLN2, FGD5, FGD5-AS1, GALNT15, GHRL, GHRLOS, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00852, LINC01266, LINC01267, LINC02011, LINC02022, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC105376975, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC111429626, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC401052, LRRN1, LSM3, METTL6, MIR12127, MIR3134, MIR3714, MIR378B, MIR4270, MIR4790, MIR4791, MIR563, MIR885, MKRN2, MKRN2OS, MRPS25, MTMR14, NR2C2, NUP210, OGG1, OXNAD1, OXTR, PLCL2, PLCL2-AS1, PPARG, PRRT3, PRRT3-AS1, RAD18, RAF1, RBSN, RFTN1, RPL32, RPUSD3, SATB1, SATB1-AS1, SEC13, SETD5, SETMAR, SH3BP5, SH3BP5-AS1, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TRNT1, TSEN2, TTLL3, VGLL4, VHL, WNT7A, XPC		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 579786.	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 GRCh37: Chr3:11504802-38961034 GRCh38: Chr3:11463328-38919543	ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARPP21, ATG7, AZI2, BALR6, BTD, C3orf20, CAND2, CAPN7, CCDC174, CCR4, CHCHD4, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, COLQ, CRTAP, CTDSPL, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EFHB, EOMES, EPM2AIP1, EXOG, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GLB1, GOLGA4, GOLGA4-AS1, GPD1L, GRIP2, HACL1, HDAC11, HDAC11-AS1, IQSEC1, ITGA9, ITGA9-AS1, KAT2B, KCNH8, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107457584, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365150, LOC111365223, LOC111465007, LOC111465009, LOC111501778, LOC112268445, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC114803475, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC126806650, LOC126806651, LOC126806652, LRRC3B, LRRC3B-AS1, LRRFIP2, LSM3, METTL6, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR4270, MIR4442, MIR466, MIR4791, MIR4792, MIR548AY, MIR563, MKRN2, MKRN2OS, MLH1, MRPS25, MYD88, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, RAB5A, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, SATB1, SATB1-AS1, SCN10A, SCN11A, SCN5A, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC4A7, SLC6A6, SNORA7A, SNORA93, STAC, STT3B, SUSD5, SYN2, TAMM41, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TSEN2, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, VGLL4, VILL, WNT7A, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF860		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 17032297.	Single allele GRCh38: Chr3:13371737-20095506	ANKRD28, BALR6, BTD, C3orf20, CAPN7, CCDC174, CHCHD4, COLQ, DAZL, DPH3, EAF1, EFHB, FBLN2, FGD5, FGD5-AS1, GALNT15, GRIP2, HACL1, HDAC11, HDAC11-AS1, KAT2B, KCNH8, LINC00620, LINC00690, LINC01267, LINC02011, LOC105376975, LOC107457584, LOC108254666, LOC110120630, LOC112268445, LOC112903834, LOC112903841, LOC112935902, LOC115995505, LOC115995506, LOC115995507, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LSM3, METTL6, MIR3134, MIR3714, MIR4270, MIR4791, MIR563, MRPS25, NR2C2, NUP210, OXNAD1, PLCL2, PLCL2-AS1, PP2D1, RAB5A, RBSN, RFTN1, SATB1, SATB1-AS1, SH3BP5, SH3BP5-AS1, SLC6A6, SNORA93, TBC1D5, TMEM43, WNT7A, XPC		3p- syndrome	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 1557008.	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4 GRCh37: Chr3:14402247-21697626 GRCh38: Chr3:14360747-21656134	SLC6A6, TBC1D5, ZNF385D, ZNF385D-AS1, ANKRD28, BALR6, BTD, C3orf20, CAPN7, CCDC174, COLQ, DAZL, DPH3, EAF1, EFHB, FGD5, FGD5-AS1, GALNT15, GRIP2, HACL1, KAT2B, KCNH8, LINC00690, LINC02011, LOC101927829, LOC105376975, LOC107457584, LOC110120630, LOC112903841, LOC112935902, LOC112935927, LOC115995507, LOC121009651, LOC121009652, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, METTL6, MIR3134, MIR3135A, MIR3714, MIR4270, MIR4791, MIR563, MRPS25, NR2C2, OXNAD1, PLCL2, PLCL2-AS1, PP2D1, RAB5A, RBSN, RFTN1, SATB1, SATB1-AS1, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1		See cases	Pathogenic (Jul 18, 2014)	no assertion criteria provided
Select item 1553369.	GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3 GRCh37: Chr3:15346417-16414278 GRCh38: Chr3:15304910-16372771	ANKRD28, BTD, COLQ, DPH3, EAF1, GALNT15, HACL1, LOC112935902, LOC121009652, LOC121725131, LOC121725132, LOC122889043, LOC126806618, METTL6, MIR3134, MIR4270, MIR563, OXNAD1, RFTN1, SH3BP5		See cases	Likely benign (Mar 24, 2014)	no assertion criteria provided
Select item 246701710.	NM_012260.4(HACL1):c.52A>G (p.Lys18Glu) GRCh37: Chr3:15642919 GRCh38: Chr3:15601412	BTD, HACL1	K18E	Inborn genetic diseases	Uncertain significance (Jan 26, 2023)	criteria provided, single submitter
Select item 224043511.	NM_012260.4(HACL1):c.15C>G (p.Asn5Lys) GRCh37: Chr3:15642956 GRCh38: Chr3:15601449	BTD, HACL1	N5K	Inborn genetic diseases	Uncertain significance (Aug 2, 2021)	criteria provided, single submitter
Select item 239518312.	NM_012260.4(HACL1):c.12T>G (p.Ser4Arg) GRCh37: Chr3:15642959 GRCh38: Chr3:15601452	BTD, HACL1	S4R	Inborn genetic diseases	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 126684713.	NM_012260.4(HACL1):c.-73T>C GRCh37: Chr3:15643043 GRCh38: Chr3:15601536	HACL1, BTD		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 122103114.	NM_001281723.3(BTD):c.-119G>A GRCh37: Chr3:15643175 GRCh38: Chr3:15601668	BTD		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 118841115.	NM_001281723.3(BTD):c.-74G>C GRCh37: Chr3:15643220 GRCh38: Chr3:15601713	BTD		not provided	Likely benign (Aug 20, 2019)	criteria provided, single submitter
Select item 243075516.	NM_001281723.3(BTD):c.-44G>T GRCh37: Chr3:15643250 GRCh38: Chr3:15601743	BTD		not provided	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 34390117.	NM_001370658.1(BTD):c.-148C>T GRCh37: Chr3:15643270 GRCh38: Chr3:15601763	BTD		Biotinidase deficiency	Conflicting interpretations of pathogenicity (Apr 1, 2020)	criteria provided, conflicting interpretations
Select item 34390218.	NM_001370658.1(BTD):c.-105C>T GRCh37: Chr3:15643313 GRCh38: Chr3:15601806	BTD		Biotinidase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 2510419.	NM_001370658.1(BTD):c.-94C>T GRCh37: Chr3:15643324 GRCh38: Chr3:15601817	BTD		not specified, not provided, Biotinidase deficiency	Benign/Likely benign (Dec 7, 2017)	criteria provided, multiple submitters, no conflicts
Select item 34390320.	NM_001370658.1(BTD):c.-87G>T GRCh37: Chr3:15643331 GRCh38: Chr3:15601824	BTD		Biotinidase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 55028321.	NM_001370658.1(BTD):c.-74G>A GRCh37: Chr3:15643344 GRCh38: Chr3:15601837	BTD		Biotinidase deficiency	Uncertain significance (Dec 27, 2016)	criteria provided, single submitter
Select item 34390422.	NM_001370658.1(BTD):c.-65G>T GRCh37: Chr3:15643353 GRCh38: Chr3:15601846	BTD		Biotinidase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 55867523.	NM_001370658.1(BTD):c.-60A>G GRCh37: Chr3:15643358 GRCh38: Chr3:15601851	BTD		Biotinidase deficiency	Uncertain significance (Jun 5, 2018)	criteria provided, single submitter
Select item 55857724.	NM_001370658.1(BTD):c.-59T>C GRCh37: Chr3:15643359 GRCh38: Chr3:15601852	BTD		Biotinidase deficiency	Uncertain significance (May 29, 2018)	criteria provided, single submitter
Select item 55250125.	NM_001370658.1(BTD):c.-59T>A GRCh37: Chr3:15643359 GRCh38: Chr3:15601852	BTD		Biotinidase deficiency	Uncertain significance (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55508726.	NM_001370658.1(BTD):c.-58G>A GRCh37: Chr3:15643360 GRCh38: Chr3:15601853	BTD		Biotinidase deficiency	Uncertain significance (Nov 27, 2017)	criteria provided, single submitter
Select item 205101927.	NM_001370658.1(BTD):c.-51G>T GRCh37: Chr3:15643367 GRCh38: Chr3:15601860	BTD	A4S	Biotinidase deficiency	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 108949628.	NM_001370658.1(BTD):c.-46T>C GRCh37: Chr3:15643372 GRCh38: Chr3:15601865	BTD		Biotinidase deficiency	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 99177329.	NM_001370658.1(BTD):c.-45A>T GRCh37: Chr3:15643373 GRCh38: Chr3:15601866	BTD	I6F	Biotinidase deficiency	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 94695830.	NM_001370658.1(BTD):c.-38G>A GRCh37: Chr3:15643380 GRCh38: Chr3:15601873	BTD	G8D	Biotinidase deficiency	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 112049031.	NM_001370658.1(BTD):c.-28C>T GRCh37: Chr3:15643390 GRCh38: Chr3:15601883	BTD		Biotinidase deficiency	Likely benign (Jan 6, 2020)	criteria provided, single submitter
Select item 109094432.	NM_001370658.1(BTD):c.-22G>A GRCh37: Chr3:15643396 GRCh38: Chr3:15601889	BTD		Biotinidase deficiency	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 64101833.	NM_001370658.1(BTD):c.-18del GRCh37: Chr3:15643400 GRCh38: Chr3:15601893	BTD		Biotinidase deficiency	Pathogenic (Dec 10, 2018)	criteria provided, single submitter
Select item 55212934.	NM_001370658.1(BTD):c.-17_-17+3del GRCh37: Chr3:15643400-15643403 GRCh38: Chr3:15601893-15601896	BTD		Biotinidase deficiency	Likely pathogenic (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37127235.	NM_001370658.1(BTD):c.-18A>T GRCh37: Chr3:15643400 GRCh38: Chr3:15601893	BTD		Biotinidase deficiency	Likely pathogenic (Aug 12, 2016)	criteria provided, single submitter
Select item 37123636.	NM_001370658.1(BTD):c.-17+1del GRCh37: Chr3:15643401 GRCh38: Chr3:15601894	BTD		Biotinidase deficiency	Likely pathogenic (Aug 3, 2016)	criteria provided, single submitter
Select item 37061337.	NM_001370658.1(BTD):c.-17+1G>T GRCh37: Chr3:15643402 GRCh38: Chr3:15601895	BTD		Biotinidase deficiency	Likely pathogenic (Mar 9, 2016)	criteria provided, single submitter
Select item 37039138.	NM_001370658.1(BTD):c.-17+1G>C GRCh37: Chr3:15643402 GRCh38: Chr3:15601895	BTD		Biotinidase deficiency	Likely pathogenic (Feb 1, 2016)	criteria provided, single submitter
Select item 37037639.	NM_001370658.1(BTD):c.-17+1G>A GRCh37: Chr3:15643402 GRCh38: Chr3:15601895	BTD		Biotinidase deficiency	Likely pathogenic (Sep 2, 2016)	criteria provided, multiple submitters, no conflicts
Select item 106837940.	NM_001370658.1(BTD):c.-17+2T>C GRCh37: Chr3:15643403 GRCh38: Chr3:15601896	BTD		Biotinidase deficiency	Likely pathogenic (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59338841.	NM_001370658.1(BTD):c.-17+4C>A GRCh37: Chr3:15643405 GRCh38: Chr3:15601898	BTD		not provided	Uncertain significance (Jul 28, 2017)	criteria provided, single submitter
Select item 218799742.	NM_001370658.1(BTD):c.-17+7A>G GRCh37: Chr3:15643408 GRCh38: Chr3:15601901	BTD		Biotinidase deficiency	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 112141543.	NM_001370658.1(BTD):c.-17+7A>C GRCh37: Chr3:15643408 GRCh38: Chr3:15601901	BTD		Biotinidase deficiency	Likely benign (Dec 11, 2019)	criteria provided, single submitter
Select item 206176844.	NM_001370658.1(BTD):c.-17+8G>C GRCh37: Chr3:15643409 GRCh38: Chr3:15601902	BTD		Biotinidase deficiency	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 156604045.	NM_001370658.1(BTD):c.-17+11G>A GRCh37: Chr3:15643412 GRCh38: Chr3:15601905	BTD		Biotinidase deficiency	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 218429746.	NM_001370658.1(BTD):c.-17+13C>G GRCh37: Chr3:15643414 GRCh38: Chr3:15601907	BTD		Biotinidase deficiency	Benign (Jul 4, 2022)	criteria provided, single submitter
Select item 147959947.	NM_001370658.1(BTD):c.-17+19_-17+39del GRCh37: Chr3:15643415-15643435 GRCh38: Chr3:15601908-15601928	BTD		Biotinidase deficiency	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 217212948.	NM_001370658.1(BTD):c.-17+16G>A GRCh37: Chr3:15643417 GRCh38: Chr3:15601910	BTD		Biotinidase deficiency	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 157998349.	NM_001370658.1(BTD):c.-17+23_-17+27dup GRCh37: Chr3:15643419-15643420 GRCh38: Chr3:15601912-15601913	BTD		Biotinidase deficiency	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 216822050.	NM_001370658.1(BTD):c.-17+20C>A GRCh37: Chr3:15643421 GRCh38: Chr3:15601914	BTD		Biotinidase deficiency	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 117431951.	NM_001370658.1(BTD):c.-17+81A>C GRCh37: Chr3:15643482 GRCh38: Chr3:15601975	BTD		not provided	Benign (Aug 20, 2019)	criteria provided, single submitter
Select item 126099352.	NM_001370658.1(BTD):c.-17+290G>A GRCh37: Chr3:15643691 GRCh38: Chr3:15602184	BTD		not provided	Benign (Feb 2, 2019)	criteria provided, single submitter
Select item 126353053.	NM_001370658.1(BTD):c.-16-269G>C GRCh37: Chr3:15676662 GRCh38: Chr3:15635155	BTD		not provided	Benign (Feb 2, 2019)	criteria provided, single submitter
Select item 202153454.	NM_001370658.1(BTD):c.-16-7A>T GRCh37: Chr3:15676924 GRCh38: Chr3:15635417	BTD		Biotinidase deficiency	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 197669355.	NM_001370658.1(BTD):c.-16-7A>G GRCh37: Chr3:15676924 GRCh38: Chr3:15635417	BTD		Biotinidase deficiency	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 192217956.	NM_001370658.1(BTD):c.-16-5T>C GRCh37: Chr3:15676926 GRCh38: Chr3:15635419	BTD		Biotinidase deficiency	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 203239657.	NM_001370658.1(BTD):c.-16-2A>G GRCh37: Chr3:15676929 GRCh38: Chr3:15635422	BTD		Biotinidase deficiency	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 219942658.	NM_001370658.1(BTD):c.33C>A (p.Phe11Leu) GRCh37: Chr3:15676979 GRCh38: Chr3:15635472	BTD	F31L, F11L	Biotinidase deficiency	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 80194159.	NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) GRCh37: Chr3:15676984 GRCh38: Chr3:15635477	BTD	C13F	Biotinidase deficiency, not provided	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 189560.	NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) GRCh37: Chr3:15676984-15676990 GRCh38: Chr3:15635477-15635483	BTD	C13fs	not provided, Biotinidase deficiency	Pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2497261.	NM_001370658.1(BTD):c.39C>T (p.Cys13=) GRCh37: Chr3:15676985 GRCh38: Chr3:15635478	BTD		Biotinidase deficiency	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 80943662.	NM_001370658.1(BTD):c.40G>C (p.Gly14Arg) GRCh37: Chr3:15676986 GRCh38: Chr3:15635479	BTD	G14R	not provided	Uncertain significance (Dec 1, 2018)	criteria provided, single submitter
Select item 63191163.	NM_001370658.1(BTD):c.41_44del (p.Gly14fs) GRCh37: Chr3:15676986-15676989 GRCh38: Chr3:15635479-15635482	BTD	G14fs	not provided, Biotinidase deficiency	Conflicting interpretations of pathogenicity (Aug 5, 2022)	criteria provided, conflicting interpretations
Select item 37390664.	NM_001370658.1(BTD):c.40_41del (p.Gly14fs) GRCh37: Chr3:15676986-15676987 GRCh38: Chr3:15635479-15635480	BTD	G14fs	Biotinidase deficiency	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 189965.	NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) GRCh37: Chr3:15676986 GRCh38: Chr3:15635479	BTD	G14S	Biotinidase deficiency	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 80194266.	NM_001370658.1(BTD):c.44_45del (p.Cys15fs) GRCh37: Chr3:15676989-15676990 GRCh38: Chr3:15635482-15635483	BTD	C15fs	Biotinidase deficiency	Pathogenic/Likely pathogenic (May 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 37084767.	NM_001370658.1(BTD):c.47dup (p.Tyr16Ter) GRCh37: Chr3:15676992-15676993 GRCh38: Chr3:15635485-15635486	BTD	Y16*	Biotinidase deficiency	Pathogenic/Likely pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206679768.	NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter) GRCh37: Chr3:15676994 GRCh38: Chr3:15635487	BTD	Y36, Y16	Biotinidase deficiency	Pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 34390569.	NM_001370658.1(BTD):c.48C>T (p.Tyr16=) GRCh37: Chr3:15676994 GRCh38: Chr3:15635487	BTD		Biotinidase deficiency	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 142949370.	NM_001370658.1(BTD):c.49G>A (p.Val17Met) GRCh37: Chr3:15676995 GRCh38: Chr3:15635488	BTD	V17M, V37M	Inborn genetic diseases, Biotinidase deficiency	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107565871.	NM_001370658.1(BTD):c.56_59dup (p.Gly21fs) GRCh37: Chr3:15677001-15677002 GRCh38: Chr3:15635494-15635495	BTD	G21fs	Biotinidase deficiency	Pathogenic (Aug 25, 2021)	criteria provided, single submitter
Select item 55020872.	NM_001370658.1(BTD):c.58_59del (p.Leu20fs) GRCh37: Chr3:15677004-15677005 GRCh38: Chr3:15635497-15635498	BTD	L20fs	Biotinidase deficiency	Likely pathogenic (Jan 3, 2017)	criteria provided, single submitter
Select item 133005873.	NM_001370658.1(BTD):c.64G>C (p.Ala22Pro) GRCh37: Chr3:15677010 GRCh38: Chr3:15635503	BTD	A22P, A42P	not provided	Uncertain significance (Jan 12, 2021)	criteria provided, single submitter
Select item 3848374.	NM_001370658.1(BTD):c.68A>G (p.His23Arg) GRCh37: Chr3:15677014 GRCh38: Chr3:15635507	BTD	H23R	Inborn genetic diseases, Biotinidase deficiency	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 110397175.	NM_001370658.1(BTD):c.72C>T (p.Thr24=) GRCh37: Chr3:15677018 GRCh38: Chr3:15635511	BTD		Biotinidase deficiency	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 2497376.	NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) GRCh37: Chr3:15677019 GRCh38: Chr3:15635512	BTD	G25R	not specified, not provided, Biotinidase deficiency	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 115109777.	NM_001370658.1(BTD):c.81G>A (p.Glu27=) GRCh37: Chr3:15677027 GRCh38: Chr3:15635520	BTD		Biotinidase deficiency	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 157667378.	NM_001370658.1(BTD):c.99C>T (p.His33=) GRCh37: Chr3:15677045 GRCh38: Chr3:15635538	BTD		Biotinidase deficiency	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 205085979.	NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys) GRCh37: Chr3:15677059 GRCh38: Chr3:15635552	BTD	Y58C, Y38C	Biotinidase deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 153777080.	NM_001370658.1(BTD):c.114T>C (p.Tyr38=) GRCh37: Chr3:15677060 GRCh38: Chr3:15635553	BTD		Biotinidase deficiency	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 111476181.	NM_001370658.1(BTD):c.123C>T (p.Ala41=) GRCh37: Chr3:15677069 GRCh38: Chr3:15635562	BTD		Biotinidase deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 3848782.	NM_001370658.1(BTD):c.124G>A (p.Val42Met) GRCh37: Chr3:15677070 GRCh38: Chr3:15635563	BTD	V42M	Biotinidase deficiency	Pathogenic/Likely pathogenic (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165177883.	NM_001370658.1(BTD):c.129T>C (p.Tyr43=) GRCh37: Chr3:15677075 GRCh38: Chr3:15635568	BTD		Biotinidase deficiency	Likely benign (Nov 14, 2020)	criteria provided, single submitter
Select item 18907284.	NM_001370658.1(BTD):c.142_145dup (p.Leu49fs) GRCh37: Chr3:15677078-15677079 GRCh38: Chr3:15635571-15635572	BTD	L49fs	not provided, Biotinidase deficiency	Pathogenic/Likely pathogenic (Jul 6, 2018)	criteria provided, multiple submitters, no conflicts
Select item 3857485.	NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) GRCh37: Chr3:15677078 GRCh38: Chr3:15635571	BTD	E44D	not specified, Biotinidase deficiency	Conflicting interpretations of pathogenicity (Mar 18, 2022)	criteria provided, conflicting interpretations
Select item 34390686.	NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) GRCh37: Chr3:15677082 GRCh38: Chr3:15635575	BTD	P46T	Inborn genetic diseases, Biotinidase deficiency	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34390787.	NM_001370658.1(BTD):c.140C>G (p.Ser47Cys) GRCh37: Chr3:15677086 GRCh38: Chr3:15635579	BTD	S47C	Biotinidase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 52848088.	NM_001370658.1(BTD):c.142A>G (p.Ile48Val) GRCh37: Chr3:15677088 GRCh38: Chr3:15635581	BTD	I48V	Biotinidase deficiency	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 3848289.	NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) GRCh37: Chr3:15677098 GRCh38: Chr3:15635591	BTD	L51P	not specified, Biotinidase deficiency	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 250135590.	NM_001370658.1(BTD):c.163G>T (p.Ala55Ser) GRCh37: Chr3:15677109 GRCh38: Chr3:15635602	BTD	A55S, A75S	not provided	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 39762391.	NM_001370658.1(BTD):c.164C>A (p.Ala55Asp) GRCh37: Chr3:15677110 GRCh38: Chr3:15635603	BTD	A55D	Global developmental delay	Uncertain significance (Feb 21, 2017)	criteria provided, single submitter
Select item 190592.	NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) GRCh37: Chr3:15677121 GRCh38: Chr3:15635614	BTD	R79C, R59C	not provided, Biotinidase deficiency	Pathogenic/Likely pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3856793.	NM_001370658.1(BTD):c.176G>A (p.Arg59His) GRCh37: Chr3:15677122 GRCh38: Chr3:15635615	BTD	R59H	not provided, Biotinidase deficiency	Conflicting interpretations of pathogenicity (Jul 14, 2022)	criteria provided, conflicting interpretations
Select item 172416094.	NM_001370658.1(BTD):c.177_178del (p.Gln60fs) GRCh37: Chr3:15677123-15677124 GRCh38: Chr3:15635616-15635617	BTD	Q60fs	Biotinidase deficiency	Likely pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 65768595.	NM_001370658.1(BTD):c.179A>C (p.Gln60Pro) GRCh37: Chr3:15677125 GRCh38: Chr3:15635618	BTD	Q60P, Q80P	Biotinidase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 214405396.	NM_001370658.1(BTD):c.180A>G (p.Gln60=) GRCh37: Chr3:15677126 GRCh38: Chr3:15635619	BTD		Biotinidase deficiency	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 114756497.	NM_001370658.1(BTD):c.183G>A (p.Glu61=) GRCh37: Chr3:15677129 GRCh38: Chr3:15635622	BTD		Biotinidase deficiency	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 2498998.	NM_001370658.1(BTD):c.185C>T (p.Ala62Val) GRCh37: Chr3:15677131 GRCh38: Chr3:15635624	BTD	A62V	not specified, not provided, Biotinidase deficiency	Conflicting interpretations of pathogenicity (Jun 1, 2022)	criteria provided, conflicting interpretations
Select item 136561499.	NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del) GRCh37: Chr3:15677132-15677140 GRCh38: Chr3:15635625-15635633	BTD		not specified, Biotinidase deficiency	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24991100.	NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) GRCh37: Chr3:15677134 GRCh38: Chr3:15635627	BTD	L63S	Biotinidase deficiency	Uncertain significance (Sep 18, 2017)	criteria provided, single submitter

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