U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1785

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Mar 24, 2014)
no assertion criteria provided
2.
GRCh37:
Chr3:73914-10364808
GRCh38:
Chr3:32241-10323124
See casesPathogenic
(Jan 9, 2013)
no assertion criteria provided
3.
GRCh37:
Chr3:73914-10672995
GRCh38:
Chr3:32241-10631310
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 2, 2012)
no assertion criteria provided
5.
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 casesPathogenic
(Jul 11, 2011)
no assertion criteria provided
6.
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 casesPathogenic
(Feb 10, 2012)
no assertion criteria provided
7.
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 casesPathogenic
(Dec 16, 2011)
no assertion criteria provided
8.
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 casesPathogenic
(Nov 11, 2011)
no assertion criteria provided
9.
GRCh37:
Chr3:93949-11131255
GRCh38:
Chr3:52266-11089569
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
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 casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
12.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr3:730581-11092828
GRCh38:
Chr3:688897-11051142
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
14.
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 casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
15.
GRCh37:
Chr3:8017421-12678416
GRCh38:
Chr3:7975734-12636917
See casesLikely pathogenic
(Aug 5, 2011)
no assertion criteria provided
16.
GRCh37:
Chr3:8080414-11282617
GRCh38:
Chr3:8038727-11240931
See casesLikely pathogenic
(Feb 18, 2011)
no assertion criteria provided
17.
GRCh37:
Chr3:8983307-10193436
GRCh38:
Chr3:8941623-10151752
See casesUncertain significance
(Aug 13, 2012)
no assertion criteria provided
18.
GRCh37:
Chr3:9436558-11732086
GRCh38:
Chr3:9394874-11690612
See casesPathogenic
(Apr 21, 2011)
no assertion criteria provided
19.
GRCh37:
Chr3:9695981-10270371
GRCh38:
Chr3:9654297-10228687
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
20.
GRCh37:
Chr3:9917593-10614361
GRCh38:
Chr3:9875909-10572677
See casesPathogenic
(Sep 12, 2011)
no assertion criteria provided
21.
GRCh37:
Chr3:9937745-10262646
GRCh38:
Chr3:9896061-10220962
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
22.
GRCh37:
Chr3:10061464-12292857
GRCh38:
Chr3:10019780-12251358
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
23.
GRCh37:
Chr3:10094061-10191659
GRCh38:
Chr3:10052377-10149975
LOC107303340, BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, VHLChuvash polycythemia, Von Hippel-Lindau syndromePathogenic
(Mar 31, 2019)
criteria provided, single submitter
24.
GRCh37:
Chr3:10094061-10191659
GRCh38:
Chr3:10052377-10149975
LOC107303340, BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, VHLChuvash polycythemia, Von Hippel-Lindau syndromeUncertain significance
(May 14, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr3:10106403-10191659
GRCh38:
Chr3:10064719-10149975
LOC107303340, BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, VHLChuvash polycythemia, Von Hippel-Lindau syndromeUncertain significance
(May 18, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr3:10106407-10188326
GRCh38:
Chr3:10064723-10146642
FANCD2, FANCD2OS, LOC107303338, LOC107303339, BRK1, LOC107303340, VHLFanconi anemiaPathogenic
(Jan 11, 2018)
criteria provided, single submitter
27.
GRCh38:
Chr3:10064723-10149971
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHLVon Hippel-Lindau syndrome, Chuvash polycythemiaPathogenic
(Dec 15, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr3:10175483-10183579
GRCh38:
Chr3:10133799-10141895
LOC107303339, VHLRenal cyst, Pancreatic cystsPathogenic
(Sep 23, 2015)
criteria provided, single submitter
29.
GRCh38:
Chr3:10133996-10152871
LOC107303339, LOC107303340, VHLVon Hippel-Lindau syndromePathogenic
(Jul 13, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr3:10176798-10184122
GRCh38:
Chr3:10135114-10142438
LOC107303339, LOC107303340, VHLVon Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitter
31.
GRCh37:
Chr3:10176799-10185225
GRCh38:
Chr3:10135115-10143541
LOC107303340, LOC107303339, VHLVon Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitter
32.
GRCh37:
Chr3:10178706-10187161
GRCh38:
Chr3:10137022-10145477
LOC107303340, LOC107303339, VHLVon Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitter
33.
GRCh37:
Chr3:10178786-10185041
GRCh38:
Chr3:10137102-10143357
LOC107303339, LOC107303340, VHLVon Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr3:10180892-10190625
GRCh38:
Chr3:10139208-10148941
LOC107303340, VHLVon Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitter
35.
GRCh37:
Chr3:10181370-10184068
GRCh38:
Chr3:10139686-10142384
LOC107303340, VHLVon Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitter
36.
GRCh37:
Chr3:10181438-10184136
GRCh38:
Chr3:10139754-10142452
LOC107303340, VHLVon Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitter
37.
GRCh37:
Chr3:10181832-10182443
GRCh38:
Chr3:10140148-10140759
VHLVon Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitter
38.
GRCh37:
Chr3:10182314-10190080
GRCh38:
Chr3:10140630-10148396
LOC107303340, VHLVon Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitter
39.
GRCh37:
Chr3:10182405-10184202
GRCh38:
Chr3:10140721-10142518
LOC107303340, VHLVon Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitter
40.
GRCh37:
Chr3:10183002
GRCh38:
Chr3:10141318
VHLnot providedBenign
(Jan 10, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr3:10183204-10184291
GRCh38:
Chr3:10141520-10142607
LOC107303340, VHLVon Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitter
42.
GRCh37:
Chr3:10183240-10183241
GRCh38:
Chr3:10141556-10141557
VHLnot providedLikely benign
(Oct 17, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr3:10183241-10183242
GRCh38:
Chr3:10141557-10141558
VHLnot providedBenign
(Nov 19, 2019)
criteria provided, single submitter
44.
GRCh37:
Chr3:10183241-10183242
GRCh38:
Chr3:10141557-10141558
VHLnot providedBenign
(Nov 19, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr3:10183274
GRCh38:
Chr3:10141590
VHLnot providedBenign
(Jan 10, 2019)
criteria provided, single submitter
46.
GRCh38:
Chr3:10141635-10153670
LOC107303340, VHLVon Hippel-Lindau syndrome, Chuvash polycythemiaPathogenic
(Oct 22, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr3:10183319-10183871
GRCh38:
Chr3:10141635-10142187
VHLVon Hippel-Lindau syndrome, Chuvash polycythemiaPathogenic
(Oct 5, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr3:10183325
GRCh38:
Chr3:10141641
VHLVon 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
49.
GRCh37:
Chr3:10183337
GRCh38:
Chr3:10141653
VHLChuvash polycythemia, Von Hippel-Lindau syndrome, not provided,
Von Hippel-Lindau syndrome
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr3:10183344
GRCh38:
Chr3:10141660
VHLnot specified, Von Hippel-Lindau syndromeUncertain significance
(Aug 27, 2019)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr3:10183353
GRCh38:
Chr3:10141669
VHLVon Hippel-Lindau syndromeUncertain significance
(Jan 17, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr3:10183366
GRCh38:
Chr3:10141682
VHLVon Hippel-Lindau syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr3:10183407
GRCh38:
Chr3:10141723
VHLVon Hippel-Lindau syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr3:10183410
GRCh38:
Chr3:10141726
VHLnot specifiedUncertain significance
(Jan 13, 2020)
criteria provided, single submitter
55.
GRCh37:
Chr3:10183414
GRCh38:
Chr3:10141730
VHLVon Hippel-Lindau syndromeUncertain significance
(Feb 2, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr3:10183422
GRCh38:
Chr3:10141738
VHLnot specifiedUncertain significance
(Feb 24, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr3:10183435
GRCh38:
Chr3:10141751
VHLChuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome,
not specified, not provided
Conflicting interpretations of pathogenicity
(Oct 30, 2022)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr3:10183454-10183499
GRCh38:
Chr3:10141770-10141815
VHLVon Hippel-Lindau syndromeUncertain significance
(Aug 24, 2017)
no assertion criteria provided
59.
GRCh37:
Chr3:10183457-10183477
GRCh38:
Chr3:10141770-10141790
VHLVon Hippel-Lindau syndromeLikely pathogenic
(Dec 9, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr3:10183455
GRCh38:
Chr3:10141771
VHLnot specified, not provided, Von Hippel-Lindau syndrome
Benign/Likely benign
(Mar 23, 2018)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr3:10183459
GRCh38:
Chr3:10141775
VHLnot 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
62.
GRCh37:
Chr3:10183466-10183467
GRCh38:
Chr3:10141782-10141783
VHLnot specified, Von Hippel-Lindau syndrome, Chuvash polycythemia,
not provided, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr3:10183468
GRCh38:
Chr3:10141784
VHLHereditary 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
64.
GRCh37:
Chr3:10183470-10183489
GRCh38:
Chr3:10141786-10141805
VHLnot providedUncertain significance
(Mar 1, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr3:10183471-10183472
GRCh38:
Chr3:10141787-10141788
VHLHereditary cancer-predisposing syndromeUncertain significance
(Sep 16, 2014)
criteria provided, single submitter
66.
GRCh37:
Chr3:10183477
GRCh38:
Chr3:10141793
VHLnot providedUncertain significance
(Nov 28, 2017)
criteria provided, single submitter
67.
GRCh37:
Chr3:10183484
GRCh38:
Chr3:10141800
VHLnot specifiedLikely benign
(Jul 28, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr3:10183485
GRCh38:
Chr3:10141801
VHLnot specifiedLikely benign
(Jul 27, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr3:10183485
GRCh38:
Chr3:10141801
VHLnot specifiedLikely benign
(Jan 7, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr3:10183487
GRCh38:
Chr3:10141803
VHLnot providedBenign
(Jul 13, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr3:10183488
GRCh38:
Chr3:10141804
VHLnot specifiedLikely benign
(Feb 14, 2017)
criteria provided, single submitter
72.
GRCh37:
Chr3:10183492
GRCh38:
Chr3:10141808
VHLnot specifiedLikely benign
(Mar 15, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr3:10183494
GRCh38:
Chr3:10141810
VHLnot specifiedLikely benign
(Jun 16, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr3:10183496
GRCh38:
Chr3:10141812
VHLnot specifiedLikely benign
(Nov 3, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr3:10183496
GRCh38:
Chr3:10141812
VHLnot specifiedLikely benign
(Aug 30, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr3:10183497
GRCh38:
Chr3:10141813
VHLnot specified, not provided, Von Hippel-Lindau syndrome
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr3:10183502
GRCh38:
Chr3:10141818
VHLVon Hippel-Lindau syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr3:10183503
GRCh38:
Chr3:10141819
VHLnot specifiedLikely benign
(Jun 12, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr3:10183506
GRCh38:
Chr3:10141822
VHLVon Hippel-Lindau syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr3:10183506
GRCh38:
Chr3:10141822
VHLnot specifiedBenign
(Mar 13, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr3:10183507
GRCh38:
Chr3:10141823
VHLnot specifiedLikely benign
(Apr 3, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr3:10183509
GRCh38:
Chr3:10141825
VHLnot providedLikely benign
(May 15, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr3:10183516
GRCh38:
Chr3:10141832
VHLnot specifiedLikely benign
(Oct 27, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr3:10183517-10183518
GRCh38:
Chr3:10141833-10141834
VHLnot providedUncertain significance
(Sep 22, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr3:10183517-10183535
GRCh38:
Chr3:10141833-10141851
VHLM1fsnot providedUncertain significance
(Dec 19, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr3:10183517
GRCh38:
Chr3:10141833
VHLnot specifiedLikely benign
(Nov 21, 2017)
criteria provided, single submitter
87.
GRCh37:
Chr3:10183519
GRCh38:
Chr3:10141835
VHLnot specifiedLikely benign
(May 16, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr3:10183519-10183520
GRCh38:
Chr3:10141835-10141836
VHLM1fsnot specified, Hereditary cancer-predisposing syndrome, not provided
Conflicting interpretations of pathogenicity
(Jul 31, 2020)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr3:10183521-10183522
GRCh38:
Chr3:10141837-10141838
VHLA5fsChuvash 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
90.
GRCh37:
Chr3:10183522-10183881
GRCh38:
Chr3:10141838-10142197
VHLChuvash polycythemia, Von Hippel-Lindau syndromePathogenic
(Jun 24, 2019)
criteria provided, single submitter
91.
GRCh37:
Chr3:10183522-10191659
GRCh38:
Chr3:10141838-10149975
LOC107303340, VHLVon Hippel-Lindau syndrome, Chuvash polycythemiaPathogenic
(Oct 3, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr3:10183522
GRCh38:
Chr3:10141838
VHLnot specified, Von Hippel-Lindau syndrome, Pheochromocytoma,
Nonpapillary renal cell carcinoma, Chuvash polycythemia
Likely benign
(Dec 8, 2021)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr3:10183526-10191655
GRCh38:
Chr3:10141842-10149971
LOC107303340, VHLChuvash polycythemia, Von Hippel-Lindau syndromeUncertain significance
(May 4, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr3:10183527
GRCh38:
Chr3:10141843
VHLChuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome,
not specified, not provided
Conflicting interpretations of pathogenicity
(Oct 30, 2022)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr3:10183528
GRCh38:
Chr3:10141844
VHLHereditary cancer-predisposing syndromeUncertain significance
(Jul 8, 2020)
criteria provided, single submitter
96.
GRCh37:
Chr3:10183528
GRCh38:
Chr3:10141844
VHLHereditary cancer-predisposing syndromeUncertain significance
(Apr 29, 2020)
criteria provided, single submitter
97.
GRCh37:
Chr3:10183528
GRCh38:
Chr3:10141844
VHLHereditary cancer-predisposing syndromeUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr3:10183529
GRCh38:
Chr3:10141845
VHLHereditary cancer-predisposing syndromeUncertain significance
(May 10, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr3:10183530
GRCh38:
Chr3:10141846
VHLHereditary cancer-predisposing syndromeUncertain significance
(May 3, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr3:10183531
GRCh38:
Chr3:10141847
VHLHereditary cancer-predisposing syndromeUncertain significance
(Feb 18, 2020)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination