| - GRCh37:
- Chr3:61891-11263288
- GRCh38:
- Chr3:20213-11221602
| LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL, ARL8B, ARPC4, ARPC4-TTLL3, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HRH1, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LINC01986, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112841609, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021 | | See cases | Pathogenic (Mar 24, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:73914-10364808
- GRCh38:
- Chr3:32241-10323124
| ARL8B, ARPC4, ARPC4-TTLL3, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112935931, LOC112935932, LOC112935963, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC401052, LRRN1, MIR12127, MIR4790, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL | | See cases | Pathogenic (Jan 9, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:73914-10672995
- GRCh38:
- Chr3:32241-10631310
| ARL8B, ARPC4, ARPC4-TTLL3, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL | | See cases | Pathogenic (Dec 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr3:73914-13655318
- GRCh38:
- Chr3:32241-13613818
| ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAND2, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, FBLN2, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LINC02022, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC108254666, LOC111429626, LOC111501788, LOC112841609, LOC112848342, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MKRN2, MKRN2OS, MTMR14, NUP210, OGG1, OXTR, PPARG, PRRT3, PRRT3-AS1, RAD18, RAF1, RPL32, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SNORA7A, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, SYN2, TADA3, TAMM41, TATDN2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TRNT1, TSEN2, TTLL3, VGLL4, VHL | | See cases | Pathogenic (Aug 2, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr3:73914-11421309
- GRCh38:
- Chr3:32241-11379835
| ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HRH1, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112841609, LOC112848342, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL | | See cases | Pathogenic (Jul 11, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr3:73914-12722982
- GRCh38:
- Chr3:32241-12681483
| ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HRH1, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112841609, LOC112848342, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MKRN2, MKRN2OS, MTMR14, OGG1, OXTR, PPARG, PRRT3, PRRT3-AS1, RAD18, RAF1, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, SYN2, TADA3, TAMM41, TATDN2, THUMPD3, THUMPD3-AS1, TIMP4, TRNT1, TSEN2, TTLL3, VGLL4, VHL | | See cases | Pathogenic (Feb 10, 2012) | no assertion criteria provided |
| - 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 |
| - 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 |
| - GRCh37:
- Chr3:93949-11131255
- GRCh38:
- Chr3:52266-11089569
| LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL, ARL8B, ARPC4, ARPC4-TTLL3, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112841609, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 |
| - 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 |
| - 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 |
| - GRCh37:
- Chr3:730581-11092828
- GRCh38:
- Chr3:688897-11051142
| ARL8B, ARPC4, ARPC4-TTLL3, ATP2B2, ATP2B2-IT2, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, CAMK1, CAV3, CIDEC, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, CPNE9, CRBN, CRELD1, EDEM1, EGOT, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, IL17RC, IL17RE, IL5RA, IRAK2, ITPR1, ITPR1-DT, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LINC01266, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107522028, LOC107522035, LOC111501788, LOC112841609, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC115995504, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121725127, LOC121725128, LOC121725129, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC401052, LRRN1, MIR12127, MIR378B, MIR4790, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SETMAR, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SUMF1, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TRNT1, TTLL3, VHL | | See cases | Pathogenic (Mar 10, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:7397797-14401942
- GRCh38:
- Chr3:7356110-14360442
| ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BRK1, BRPF1, CAMK1, CAND2, CAV3, CHCHD4, CIDEC, CPNE9, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, FBLN2, GHRL, GHRLOS, GRM7, GRM7-AS1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IQSEC1, IRAK2, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00852, LINC01267, LINC02022, LMCD1, LMCD1-AS1, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC108254666, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112935963, LOC114004374, LOC114803475, LOC115995505, LOC115995506, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121725128, LOC121725129, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC401052, LSM3, MIR12127, MIR378B, MIR885, MKRN2, MKRN2OS, MTMR14, NUP210, OGG1, OXTR, PPARG, PRRT3, PRRT3-AS1, RAD18, RAF1, RPL32, RPUSD3, SEC13, SETD5, SLC6A1, SLC6A1-AS1, SLC6A11, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SYN2, TADA3, TAMM41, TATDN2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TSEN2, TTLL3, VGLL4, VHL, WNT7A, XPC | | See cases | Pathogenic (Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:8017421-12678416
- GRCh38:
- Chr3:7975734-12636917
| ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BRK1, BRPF1, CAMK1, CAV3, CIDEC, CPNE9, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IL17RC, IL17RE, IRAK2, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LMCD1, LMCD1-AS1, LOC101927394, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC112841609, LOC112848342, LOC112935963, LOC114004374, LOC114803475, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121725128, LOC121725129, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC401052, MIR12127, MIR378B, MIR885, MKRN2, MKRN2OS, MTMR14, OGG1, OXTR, PPARG, PRRT3, PRRT3-AS1, RAD18, RAF1, RPUSD3, SEC13, SETD5, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, SYN2, TADA3, TAMM41, TATDN2, THUMPD3, THUMPD3-AS1, TIMP4, TSEN2, TTLL3, VGLL4, VHL | | See cases | Likely pathogenic (Aug 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr3:8080414-11282617
- GRCh38:
- Chr3:8038727-11240931
| ARPC4, ARPC4-TTLL3, ATP2B2, ATP2B2-IT2, BRK1, BRPF1, CAMK1, CAV3, CIDEC, CPNE9, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IL17RC, IL17RE, IRAK2, JAGN1, LHFPL4, LINC00312, LINC00606, LINC00852, LMCD1, LMCD1-AS1, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC112841609, LOC112848342, LOC112935963, LOC114004374, LOC121009637, LOC121009638, LOC121009639, LOC121725128, LOC121725129, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC401052, MIR12127, MIR378B, MIR885, MTMR14, OGG1, OXTR, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SEC13, SETD5, SLC6A1, SLC6A1-AS1, SLC6A11, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, TADA3, TATDN2, THUMPD3, THUMPD3-AS1, TTLL3, VHL | | See cases | Likely pathogenic (Feb 18, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr3:8983307-10193436
- GRCh38:
- Chr3:8941623-10151752
| EMC3, EMC3-AS1, FANCD2, FANCD2OS, IL17RC, IL17RE, JAGN1, LHFPL4, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC112935963, LOC121009638, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC126806600, LOC401052, MTMR14, OGG1, PRRT3, PRRT3-AS1, RAD18, RPUSD3, SETD5, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, TADA3, THUMPD3, THUMPD3-AS1, TTLL3, VHL, ARPC4, ARPC4-TTLL3, BRK1, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1 | | See cases | Uncertain significance (Aug 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr3:9436558-11732086
- GRCh38:
- Chr3:9394874-11690612
| ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, BRK1, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IL17RC, IL17RE, IRAK2, JAGN1, LHFPL4, LINC00606, LINC00852, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC112841609, LOC112848342, LOC112935963, LOC114004374, LOC121009638, LOC121009639, LOC121725128, LOC121725129, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC401052, MIR12127, MIR378B, MIR885, MTMR14, OGG1, PRRT3, PRRT3-AS1, RPUSD3, SEC13, SETD5, SLC6A1, SLC6A1-AS1, SLC6A11, TADA3, TATDN2, THUMPD3-AS1, TTLL3, VGLL4, VHL | | See cases | Pathogenic (Apr 21, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr3:9695981-10270371
- GRCh38:
- Chr3:9654297-10228687
| ARPC4, ARPC4-TTLL3, BRK1, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, IL17RC, IL17RE, IRAK2, JAGN1, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC112935963, LOC121009638, LOC121725128, LOC122889029, LOC122889030, LOC122889031, LOC126806600, LOC401052, MTMR14, OGG1, PRRT3, PRRT3-AS1, RPUSD3, TADA3, TTLL3, VHL | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr3:9917593-10614361
- GRCh38:
- Chr3:9875909-10572677
| ATP2B2, BRK1, CIDEC, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, GHRL, GHRLOS, IL17RC, IL17RE, IRAK2, JAGN1, LINC00852, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC112935963, LOC114004374, LOC121009639, LOC121725128, LOC121725129, LOC122889031, LOC122889032, LOC126806600, LOC401052, MIR12127, MIR378B, MIR885, PRRT3, PRRT3-AS1, SEC13, TATDN2, VHL | | See cases | Pathogenic (Sep 12, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr3:9937745-10262646
- GRCh38:
- Chr3:9896061-10220962
| BRK1, CRELD1, EMC3, EMC3-AS1, FANCD2, FANCD2OS, IL17RC, IL17RE, IRAK2, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC112935963, LOC121725128, LOC126806600, LOC401052, PRRT3, PRRT3-AS1, VHL | | See cases | Pathogenic (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr3:10061464-12292857
- GRCh38:
- Chr3:10019780-12251358
| ATG7, ATP2B2, ATP2B2-IT2, BRK1, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IRAK2, LINC00606, LINC00852, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC112841609, LOC112848342, LOC114004374, LOC121009639, LOC121009640, LOC121725128, LOC121725129, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC126806601, LOC126806602, LOC126806603, LOC126806604, MIR12127, MIR378B, MIR885, SEC13, SLC6A1, SLC6A1-AS1, SLC6A11, SYN2, TAMM41, TATDN2, TIMP4, VGLL4, VHL | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10094061-10191659
- GRCh38:
- Chr3:10052377-10149975
| LOC107303340, BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, VHL | | Chuvash polycythemia, Von Hippel-Lindau syndrome | Pathogenic (Mar 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10094061-10191659
- GRCh38:
- Chr3:10052377-10149975
| LOC107303340, BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, VHL | | Chuvash polycythemia, Von Hippel-Lindau syndrome | Uncertain significance (May 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10106403-10191659
- GRCh38:
- Chr3:10064719-10149975
| LOC107303340, BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, VHL | | Chuvash polycythemia, Von Hippel-Lindau syndrome | Uncertain significance (May 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10106407-10188326
- GRCh38:
- Chr3:10064723-10146642
| FANCD2, FANCD2OS, LOC107303338, LOC107303339, BRK1, LOC107303340, VHL | | Fanconi anemia | Pathogenic (Jan 11, 2018) | criteria provided, single submitter |
| - GRCh38:
- Chr3:10064723-10149971
| BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL | | Von Hippel-Lindau syndrome, Chuvash polycythemia | Pathogenic (Dec 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10175483-10183579
- GRCh38:
- Chr3:10133799-10141895
| LOC107303339, VHL | | Renal cyst, Pancreatic cysts | Pathogenic (Sep 23, 2015) | criteria provided, single submitter |
| - GRCh38:
- Chr3:10133996-10152871
| LOC107303339, LOC107303340, VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10176798-10184122
- GRCh38:
- Chr3:10135114-10142438
| LOC107303339, LOC107303340, VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10176799-10185225
- GRCh38:
- Chr3:10135115-10143541
| LOC107303340, LOC107303339, VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10178706-10187161
- GRCh38:
- Chr3:10137022-10145477
| LOC107303340, LOC107303339, VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10178786-10185041
- GRCh38:
- Chr3:10137102-10143357
| LOC107303339, LOC107303340, VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10180892-10190625
- GRCh38:
- Chr3:10139208-10148941
| LOC107303340, VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10181370-10184068
- GRCh38:
- Chr3:10139686-10142384
| LOC107303340, VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10181438-10184136
- GRCh38:
- Chr3:10139754-10142452
| LOC107303340, VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10181832-10182443
- GRCh38:
- Chr3:10140148-10140759
| VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10182314-10190080
- GRCh38:
- Chr3:10140630-10148396
| LOC107303340, VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10182405-10184202
- GRCh38:
- Chr3:10140721-10142518
| LOC107303340, VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183002
- GRCh38:
- Chr3:10141318
| VHL | | not provided | Benign (Jan 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183204-10184291
- GRCh38:
- Chr3:10141520-10142607
| LOC107303340, VHL | | Von Hippel-Lindau syndrome | Pathogenic (Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183240-10183241
- GRCh38:
- Chr3:10141556-10141557
| VHL | | not provided | Likely benign (Oct 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183241-10183242
- GRCh38:
- Chr3:10141557-10141558
| VHL | | not provided | Benign (Nov 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183241-10183242
- GRCh38:
- Chr3:10141557-10141558
| VHL | | not provided | Benign (Nov 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183274
- GRCh38:
- Chr3:10141590
| VHL | | not provided | Benign (Jan 10, 2019) | criteria provided, single submitter |
| - GRCh38:
- Chr3:10141635-10153670
| LOC107303340, VHL | | Von Hippel-Lindau syndrome, Chuvash polycythemia | Pathogenic (Oct 22, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183319-10183871
- GRCh38:
- Chr3:10141635-10142187
| VHL | | Von Hippel-Lindau syndrome, Chuvash polycythemia | Pathogenic (Oct 5, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183325
- GRCh38:
- Chr3:10141641
| VHL | | Von Hippel-Lindau syndrome, Pheochromocytoma, Chuvash polycythemia, Von Hippel-Lindau syndrome, Nonpapillary renal cell carcinoma | Uncertain significance (Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:10183337
- GRCh38:
- Chr3:10141653
| VHL | | Chuvash polycythemia, Von Hippel-Lindau syndrome, not provided, Von Hippel-Lindau syndrome | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:10183344
- GRCh38:
- Chr3:10141660
| VHL | | not specified, Von Hippel-Lindau syndrome | Uncertain significance (Aug 27, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:10183353
- GRCh38:
- Chr3:10141669
| VHL | | Von Hippel-Lindau syndrome | Uncertain significance (Jan 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183366
- GRCh38:
- Chr3:10141682
| VHL | | Von Hippel-Lindau syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183407
- GRCh38:
- Chr3:10141723
| VHL | | Von Hippel-Lindau syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183410
- GRCh38:
- Chr3:10141726
| VHL | | not specified | Uncertain significance (Jan 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183414
- GRCh38:
- Chr3:10141730
| VHL | | Von Hippel-Lindau syndrome | Uncertain significance (Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183422
- GRCh38:
- Chr3:10141738
| VHL | | not specified | Uncertain significance (Feb 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183435
- GRCh38:
- Chr3:10141751
| VHL | | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, not specified, not provided | Conflicting interpretations of pathogenicity (Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:10183454-10183499
- GRCh38:
- Chr3:10141770-10141815
| VHL | | Von Hippel-Lindau syndrome | Uncertain significance (Aug 24, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr3:10183457-10183477
- GRCh38:
- Chr3:10141770-10141790
| VHL | | Von Hippel-Lindau syndrome | Likely pathogenic (Dec 9, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183455
- GRCh38:
- Chr3:10141771
| VHL | | not specified, not provided, Von Hippel-Lindau syndrome
| Benign/Likely benign (Mar 23, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:10183459
- GRCh38:
- Chr3:10141775
| VHL | | not specified, Nonpapillary renal cell carcinoma, Chuvash polycythemia, Pheochromocytoma, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
| Conflicting interpretations of pathogenicity (Oct 11, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:10183466-10183467
- GRCh38:
- Chr3:10141782-10141783
| VHL | | not specified, Von Hippel-Lindau syndrome, Chuvash polycythemia, not provided, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity (Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:10183468
- GRCh38:
- Chr3:10141784
| VHL | | Hereditary cancer-predisposing syndrome, not provided, Chuvash polycythemia, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome | Conflicting interpretations of pathogenicity (Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:10183470-10183489
- GRCh38:
- Chr3:10141786-10141805
| VHL | | not provided | Uncertain significance (Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183471-10183472
- GRCh38:
- Chr3:10141787-10141788
| VHL | | Hereditary cancer-predisposing syndrome | Uncertain significance (Sep 16, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183477
- GRCh38:
- Chr3:10141793
| VHL | | not provided | Uncertain significance (Nov 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183484
- GRCh38:
- Chr3:10141800
| VHL | | not specified | Likely benign (Jul 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183485
- GRCh38:
- Chr3:10141801
| VHL | | not specified | Likely benign (Jul 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183485
- GRCh38:
- Chr3:10141801
| VHL | | not specified | Likely benign (Jan 7, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183487
- GRCh38:
- Chr3:10141803
| VHL | | not provided | Benign (Jul 13, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183488
- GRCh38:
- Chr3:10141804
| VHL | | not specified | Likely benign (Feb 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183492
- GRCh38:
- Chr3:10141808
| VHL | | not specified | Likely benign (Mar 15, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183494
- GRCh38:
- Chr3:10141810
| VHL | | not specified | Likely benign (Jun 16, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183496
- GRCh38:
- Chr3:10141812
| VHL | | not specified | Likely benign (Nov 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183496
- GRCh38:
- Chr3:10141812
| VHL | | not specified | Likely benign (Aug 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183497
- GRCh38:
- Chr3:10141813
| VHL | | not specified, not provided, Von Hippel-Lindau syndrome
| Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:10183502
- GRCh38:
- Chr3:10141818
| VHL | | Von Hippel-Lindau syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183503
- GRCh38:
- Chr3:10141819
| VHL | | not specified | Likely benign (Jun 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183506
- GRCh38:
- Chr3:10141822
| VHL | | Von Hippel-Lindau syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183506
- GRCh38:
- Chr3:10141822
| VHL | | not specified | Benign (Mar 13, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183507
- GRCh38:
- Chr3:10141823
| VHL | | not specified | Likely benign (Apr 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183509
- GRCh38:
- Chr3:10141825
| VHL | | not provided | Likely benign (May 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183516
- GRCh38:
- Chr3:10141832
| VHL | | not specified | Likely benign (Oct 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183517-10183518
- GRCh38:
- Chr3:10141833-10141834
| VHL | | not provided | Uncertain significance (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183517-10183535
- GRCh38:
- Chr3:10141833-10141851
| VHL | M1fs | not provided | Uncertain significance (Dec 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183517
- GRCh38:
- Chr3:10141833
| VHL | | not specified | Likely benign (Nov 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183519
- GRCh38:
- Chr3:10141835
| VHL | | not specified | Likely benign (May 16, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183519-10183520
- GRCh38:
- Chr3:10141835-10141836
| VHL | M1fs | not specified, Hereditary cancer-predisposing syndrome, not provided
| Conflicting interpretations of pathogenicity (Jul 31, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:10183521-10183522
- GRCh38:
- Chr3:10141837-10141838
| VHL | A5fs | Chuvash polycythemia, Pheochromocytoma, Von Hippel-Lindau syndrome, Nonpapillary renal cell carcinoma, Hereditary cancer-predisposing syndrome, not provided
| Uncertain significance (Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:10183522-10183881
- GRCh38:
- Chr3:10141838-10142197
| VHL | | Chuvash polycythemia, Von Hippel-Lindau syndrome | Pathogenic (Jun 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183522-10191659
- GRCh38:
- Chr3:10141838-10149975
| LOC107303340, VHL | | Von Hippel-Lindau syndrome, Chuvash polycythemia | Pathogenic (Oct 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183522
- GRCh38:
- Chr3:10141838
| VHL | | not specified, Von Hippel-Lindau syndrome, Pheochromocytoma, Nonpapillary renal cell carcinoma, Chuvash polycythemia | Likely benign (Dec 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:10183526-10191655
- GRCh38:
- Chr3:10141842-10149971
| LOC107303340, VHL | | Chuvash polycythemia, Von Hippel-Lindau syndrome | Uncertain significance (May 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183527
- GRCh38:
- Chr3:10141843
| VHL | | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, not specified, not provided | Conflicting interpretations of pathogenicity (Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:10183528
- GRCh38:
- Chr3:10141844
| VHL | | Hereditary cancer-predisposing syndrome | Uncertain significance (Jul 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183528
- GRCh38:
- Chr3:10141844
| VHL | | Hereditary cancer-predisposing syndrome | Uncertain significance (Apr 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183528
- GRCh38:
- Chr3:10141844
| VHL | | Hereditary cancer-predisposing syndrome | Uncertain significance (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183529
- GRCh38:
- Chr3:10141845
| VHL | | Hereditary cancer-predisposing syndrome | Uncertain significance (May 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183530
- GRCh38:
- Chr3:10141846
| VHL | | Hereditary cancer-predisposing syndrome | Uncertain significance (May 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10183531
- GRCh38:
- Chr3:10141847
| VHL | | Hereditary cancer-predisposing syndrome | Uncertain significance (Feb 18, 2020) | criteria provided, single submitter |