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Items: 1 to 100 of 246

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr3:61891-9403721
GRCh38:
Chr3:20213-9362037
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000154175
2.
GRCh37:
Chr3:61891-11263288
GRCh38:
Chr3:20213-11221602
See casesPathogenic
(Mar 24, 2014)
no assertion criteria providedVCV000153284
3.
GRCh37:
Chr3:73914-10364808
GRCh38:
Chr3:32241-10323124
See casesPathogenic
(Jan 9, 2013)
no assertion criteria providedVCV000155258
4.
GRCh37:
Chr3:73914-10672995
GRCh38:
Chr3:32241-10631310
See casesPathogenic
(Dec 10, 2012)
no assertion criteria providedVCV000155106
5.
GRCh37:
Chr3:73914-9107971
GRCh38:
Chr3:32241-9066287
See casesPathogenic
(Jan 14, 2013)
no assertion criteria providedVCV000152256
6.
GRCh37:
Chr3:73914-9616678
GRCh38:
Chr3:32241-9574994
See casesPathogenic
(Oct 9, 2012)
no assertion criteria providedVCV000151534
7.
GRCh37:
Chr3:73914-9511190
GRCh38:
Chr3:32241-9469506
See casesPathogenic
(May 7, 2012)
no assertion criteria providedVCV000150393
8.
GRCh37:
Chr3:73914-13655318
GRCh38:
Chr3:32241-13613818
See casesPathogenic
(Aug 2, 2012)
no assertion criteria providedVCV000150031
9.
GRCh37:
Chr3:73914-11421309
GRCh38:
Chr3:32241-11379835
See casesPathogenic
(Jul 11, 2011)
no assertion criteria providedVCV000149331
10.
GRCh37:
Chr3:73914-12722982
GRCh38:
Chr3:32241-12681483
See casesPathogenic
(Feb 10, 2012)
no assertion criteria providedVCV000149085
11.
GRCh37:
Chr3:73914-30105699
GRCh38:
Chr3:32241-30064208
ATP2B2, BTD, CAV3, DAZL, FANCD2, FBLN2, GRM7, HRH1, IL5RA, IRAK2, ITPR1, OGG1, OXTR, PPARG, RAB5A, RAF1, RARB, RPL15, RPL32, SATB1, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, SYN2, THRB, TIMP4, TOP2B, NR2C2, UBE2E1, UBE2E2, VHL, WNT7A, XPC, BRPF1, COLQ, EOMES, CAMK1, BHLHE40, KAT2B, SH3BP5, SLC4A7, VGLL4, EDEM1, TBC1D5, TATDN2, SRGAP3, IQSEC1, NR1D2, ARPC4, TADA3, ATG7, CHL1, CAND2, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, THUMPD3, HACL1, TTLL3, CNTN6, LSM3, RBMS3, NKIRAS1, LINC00312, LMCD1, SSUH2, TRNT1, CRBN, CCDC174, GHRL, OXSM, ARL8B, SETD5, TMEM40, NGLY1, EMC3, BRK1, RAD18, LRRN1, CIDEC, RBSN, AZI2, MTMR14, MRPS25, CRELD1, TMEM43, ZNF385D, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, OXNAD1, FANCD2OS, LRRC3B, GALNT15, KCNH8, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, LINC00691, ZCWPW2, CMC1, NEK10, FGD5, LINC02011, CNTN4, LINC00692, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, LHFPL4, LOC401052, THUMPD3-AS1, EMC3-AS1, SNORA7A, THRB-AS1, LINC00693, MIR563, MIR885, EGOT, GHRLOS, MKRN2OS, LOC100130207, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR3714, FGD5-AS1, SH3BP5-AS1, UBE2E2-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, MIR4792, MIR4442, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, UBE2E1-AS1, HDAC11-AS1, ZNF385D-AS1, ZNF385D-AS2, ATP2B2-IT2, ITPR1-DT, LINC00690, LINC01981, CHL1-AS2, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, SRGAP3-AS2, SRGAP3-AS4, LINC01267, SATB1-AS1, LOC101927829, LOC101927854, GRM7-AS2, LINC02022, LOC105376975, RARB-AS1, LINC02084, LINC01980, SNORA93, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC111365223, LOC111429626, LOC111465009, LOC111501788, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935931, LOC112935932, LOC112935963, MIR12127, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507
See casesPathogenic
(Dec 16, 2011)
no assertion criteria providedVCV000148942
12.
GRCh37:
Chr3:73914-20375879
GRCh38:
Chr3:32241-20334387
ATP2B2, BTD, CAV3, DAZL, FANCD2, FBLN2, GRM7, HRH1, IL5RA, IRAK2, ITPR1, OGG1, OXTR, PPARG, RAB5A, RAF1, RPL32, SATB1, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, SYN2, TIMP4, NR2C2, VHL, WNT7A, XPC, BRPF1, COLQ, CAMK1, BHLHE40, KAT2B, SH3BP5, VGLL4, EDEM1, TBC1D5, TATDN2, SRGAP3, IQSEC1, ARPC4, TADA3, ATG7, CHL1, CAND2, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, THUMPD3, HACL1, TTLL3, CNTN6, LSM3, LINC00312, LMCD1, SSUH2, TRNT1, CRBN, CCDC174, GHRL, ARL8B, SETD5, TMEM40, EMC3, BRK1, RAD18, LRRN1, CIDEC, RBSN, MTMR14, MRPS25, CRELD1, TMEM43, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, OXNAD1, FANCD2OS, GALNT15, KCNH8, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, FGD5, LINC02011, CNTN4, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, LHFPL4, LOC401052, THUMPD3-AS1, EMC3-AS1, SNORA7A, MIR563, MIR885, EGOT, GHRLOS, MKRN2OS, LOC100130207, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR3714, FGD5-AS1, SH3BP5-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, HDAC11-AS1, ATP2B2-IT2, ITPR1-DT, LINC00690, CHL1-AS2, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, SRGAP3-AS2, SRGAP3-AS4, LINC01267, SATB1-AS1, GRM7-AS2, LINC02022, LOC105376975, SNORA93, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC111429626, LOC111501788, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935931, LOC112935932, LOC112935963, MIR12127, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507
See casesPathogenic
(Nov 11, 2011)
no assertion criteria providedVCV000148876
13.
GRCh37:
Chr3:93749-20321619
GRCh38:
Chr3:52066-20280127
ATP2B2, BTD, CAV3, DAZL, FANCD2, FBLN2, GRM7, HRH1, IL5RA, IRAK2, ITPR1, OGG1, OXTR, PPARG, RAB5A, RAF1, RPL32, SATB1, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, SYN2, TIMP4, NR2C2, VHL, WNT7A, XPC, BRPF1, COLQ, CAMK1, BHLHE40, KAT2B, SH3BP5, VGLL4, EDEM1, TBC1D5, TATDN2, SRGAP3, IQSEC1, ARPC4, TADA3, ATG7, CHL1, CAND2, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, THUMPD3, HACL1, TTLL3, CNTN6, LSM3, LINC00312, LMCD1, SSUH2, TRNT1, CRBN, CCDC174, GHRL, ARL8B, SETD5, TMEM40, EMC3, BRK1, RAD18, LRRN1, CIDEC, RBSN, MTMR14, MRPS25, CRELD1, TMEM43, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, OXNAD1, FANCD2OS, GALNT15, KCNH8, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, FGD5, LINC02011, CNTN4, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, LHFPL4, LOC401052, THUMPD3-AS1, EMC3-AS1, SNORA7A, MIR563, MIR885, EGOT, GHRLOS, MKRN2OS, LOC100130207, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR3714, FGD5-AS1, SH3BP5-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, HDAC11-AS1, ATP2B2-IT2, ITPR1-DT, LINC00690, CHL1-AS2, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, SRGAP3-AS2, SRGAP3-AS4, LINC01267, SATB1-AS1, GRM7-AS2, LINC02022, LOC105376975, SNORA93, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC111429626, LOC111501788, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935931, LOC112935932, LOC112935963, MIR12127, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057948
14.
GRCh37:
Chr3:93949-9491994
GRCh38:
Chr3:52266-9450310
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000148015
15.
GRCh37:
Chr3:93949-11131255
GRCh38:
Chr3:52266-11089569
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057708
16.
GRCh37:
Chr3:93949-37189567
GRCh38:
Chr3:52266-37148076
ATP2B2, BTD, CAV3, CCR4, DAZL, FANCD2, FBLN2, GLB1, GRM7, HRH1, IL5RA, IRAK2, ITPR1, MLH1, OGG1, OXTR, PPARG, RAB5A, RAF1, RARB, RPL15, RPL32, SATB1, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, STAC, SYN2, TGFBR2, THRB, TIMP4, TOP2B, NR2C2, UBE2E1, UBE2E2, UBP1, VHL, WNT7A, XPC, BRPF1, COLQ, EOMES, CAMK1, BHLHE40, KAT2B, LRRFIP2, SH3BP5, SLC4A7, VGLL4, EDEM1, TBC1D5, TATDN2, EPM2AIP1, TRANK1, SRGAP3, IQSEC1, NR1D2, PDCD6IP, ARPC4, TADA3, CRTAP, ATG7, CHL1, ARPP21, CAND2, CLASP2, GPD1L, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, FBXL2, CNOT10, THUMPD3, SUSD5, HACL1, TTLL3, CNTN6, LSM3, RBMS3, NKIRAS1, LINC00312, LMCD1, SSUH2, TRNT1, DYNC1LI1, CRBN, CCDC174, GHRL, CMTM6, OXSM, ARL8B, SETD5, TMEM40, NGLY1, EMC3, BRK1, RAD18, LRRN1, CIDEC, RBSN, AZI2, MTMR14, MRPS25, CRELD1, TMEM43, ZNF385D, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, DCLK3, OXNAD1, CMTM7, OSBPL10, FANCD2OS, LRRC3B, GALNT15, KCNH8, TRIM71, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, LINC00691, ZCWPW2, CMC1, NEK10, CMTM8, FGD5, LINC02011, CNTN4, STT3B, LINC00692, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, GADL1, ZNF860, LHFPL4, LOC401052, MIR128-2, THUMPD3-AS1, EMC3-AS1, SNORA7A, TMPPE, THRB-AS1, LINC00693, MIR563, MIR885, EGOT, GHRLOS, MKRN2OS, LOC100130207, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR466, MIR3714, FGD5-AS1, SH3BP5-AS1, UBE2E2-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, MIR4792, MIR4442, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, UBE2E1-AS1, HDAC11-AS1, OSBPL10-AS1, ZNF385D-AS1, ZNF385D-AS2, ATP2B2-IT2, ITPR1-DT, LINC00690, LINC01981, CHL1-AS2, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, SRGAP3-AS2, SRGAP3-AS4, LINC01267, SATB1-AS1, LOC101927829, LOC101927854, LINC01985, LINC01811, LOC101928135, MIR548AY, GRM7-AS2, LINC02022, LOC105376975, RARB-AS1, LINC02084, LINC01980, LINC02033, SNORA93, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC111365150, LOC111365223, LOC111429626, LOC111465009, LOC111501778, LOC111501788, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935931, LOC112935932, LOC112935963, MIR12127, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057397
17.
GRCh37:
Chr3:94991-41423012
GRCh38:
Chr3:53308-41381521
ACAA1, ACVR2B, ATP2B2, BTD, CAV3, ENTPD3, CCR4, CCR8, CTNNB1, CX3CR1, DAZL, FANCD2, FBLN2, GLB1, GOLGA4, GRM7, HRH1, IL5RA, IRAK2, ITGA9, ITPR1, RPSA, MLH1, MOBP, MYD88, OGG1, OXTR, PLCD1, PPARG, RAB5A, RAF1, RARB, SNORA62, RPL15, RPL32, SATB1, SLC6A6, SCN5A, SCN10A, SEC13, SETMAR, SLC6A1, SLC6A11, STAC, SYN2, TGFBR2, THRB, TIMP4, TOP2B, NR2C2, UBE2E1, UBE2E2, UBP1, VHL, WNT7A, XPC, BRPF1, COLQ, EOMES, CAMK1, BHLHE40, KAT2B, RPL14, LRRFIP2, SLC22A14, SLC22A13, SH3BP5, SLC4A7, VGLL4, EDEM1, TBC1D5, TATDN2, EPM2AIP1, TRANK1, SRGAP3, IQSEC1, DLEC1, EXOG, XYLB, OXSR1, NR1D2, PDCD6IP, ARPC4, CTDSPL, EIF1B, TADA3, CRTAP, ATG7, CHL1, ARPP21, SCN11A, CAND2, CLASP2, GPD1L, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, FBXL2, CNOT10, THUMPD3, MYRIP, SUSD5, HACL1, TTLL3, CNTN6, LSM3, RBMS3, NKIRAS1, LINC00312, LMCD1, VILL, SSUH2, TRNT1, DYNC1LI1, CRBN, CCDC174, GHRL, CMTM6, SLC25A38, ULK4, OXSM, ARL8B, SETD5, TMEM40, NGLY1, EMC3, BRK1, RAD18, WDR48, LRRN1, CIDEC, RBSN, AZI2, MTMR14, MRPS25, CSRNP1, GORASP1, CRELD1, TMEM43, ZNF385D, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, DCLK3, OXNAD1, CMTM7, OSBPL10, FANCD2OS, LRRC3B, GALNT15, KCNH8, TRIM71, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, LINC00691, LOC152048, ZCWPW2, CMC1, NEK10, CMTM8, FGD5, LINC02011, CNTN4, XIRP1, TTC21A, STT3B, ZNF620, ENTPD3-AS1, ZNF619, ZNF621, LINC00692, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, C3orf35, GADL1, ZNF860, LHFPL4, LOC401052, MIR128-2, MIR26A1, THUMPD3-AS1, EIF1B-AS1, EMC3-AS1, SNORA6, SNORA7A, TMPPE, THRB-AS1, LINC00693, MIR563, MIR885, EGOT, GHRLOS, ACVR2B-AS1, MKRN2OS, LOC100130207, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR466, MIR3714, FGD5-AS1, SH3BP5-AS1, UBE2E2-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, MIR4792, MIR4442, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, UBE2E1-AS1, HDAC11-AS1, OSBPL10-AS1, ZNF385D-AS1, ZNF385D-AS2, ATP2B2-IT2, ITPR1-DT, LINC00690, LINC01981, CHL1-AS2, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, SRGAP3-AS2, SRGAP3-AS4, LINC01267, SATB1-AS1, LOC101927829, LOC101927854, LINC01985, LINC01811, LOC101928135, ITGA9-AS1, MIR548AY, MIR6822, GRM7-AS2, LINC02022, LOC105376975, RARB-AS1, LINC02084, LINC01980, LINC02033, SNORA93, 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, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC112935931, LOC112935932, LOC112935933, LOC112935934, LOC112935935, LOC112935963, MIR12127, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509
See casesPathogenic
(Jun 4, 2013)
no assertion criteria providedVCV000153415
18.
GRCh37:
Chr3:105526-19552092
GRCh38:
Chr3:63843-19510600
ATP2B2, BTD, CAV3, DAZL, FANCD2, FBLN2, GRM7, HRH1, IL5RA, IRAK2, ITPR1, OGG1, OXTR, PPARG, RAF1, RPL32, SATB1, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, SYN2, TIMP4, NR2C2, VHL, WNT7A, XPC, BRPF1, COLQ, CAMK1, BHLHE40, SH3BP5, VGLL4, EDEM1, TBC1D5, TATDN2, SRGAP3, IQSEC1, ARPC4, TADA3, ATG7, CHL1, CAND2, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, THUMPD3, HACL1, TTLL3, CNTN6, LSM3, LINC00312, LMCD1, SSUH2, TRNT1, CRBN, CCDC174, GHRL, ARL8B, SETD5, TMEM40, EMC3, BRK1, RAD18, LRRN1, CIDEC, RBSN, MTMR14, MRPS25, CRELD1, TMEM43, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, OXNAD1, FANCD2OS, GALNT15, KCNH8, CHCHD4, METTL6, TAMM41, IL17RE, CPNE9, FGD5, LINC02011, CNTN4, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, LHFPL4, LOC401052, THUMPD3-AS1, EMC3-AS1, SNORA7A, MIR563, MIR885, EGOT, GHRLOS, MKRN2OS, LOC100130207, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR378B, MIR3134, MIR3714, FGD5-AS1, SH3BP5-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, PRRT3-AS1, SLC6A1-AS1, HDAC11-AS1, ATP2B2-IT2, ITPR1-DT, LINC00690, CHL1-AS2, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, SRGAP3-AS2, SRGAP3-AS4, LINC01267, SATB1-AS1, GRM7-AS2, LINC02022, LOC105376975, SNORA93, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC111429626, LOC111501788, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935931, LOC112935932, LOC112935963, MIR12127, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057977
19.
GRCh37:
Chr3:105526-9549653
GRCh38:
Chr3:63843-9507969
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057736
20.
GRCh37:
Chr3:730581-11092828
GRCh38:
Chr3:688897-11051142
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000155639
21.
GRCh37:
Chr3:7397797-14401942
GRCh38:
Chr3:7356110-14360442
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155699
22.
GRCh37:
Chr3:7442623-9492135
GRCh38:
Chr3:7400936-9450451
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057739
23.
GRCh37:
Chr3:7442823-9037461
GRCh38:
Chr3:7401136-8995777
See casesUncertain significance
(Jan 30, 2010)
no assertion criteria providedVCV000144395
24.
GRCh37:
Chr3:8017421-12678416
GRCh38:
Chr3:7975734-12636917
See casesLikely pathogenic
(Aug 5, 2011)
no assertion criteria providedVCV000148234
25.
GRCh37:
Chr3:8017421-9079817
GRCh38:
Chr3:7975734-9038133
CAV3, OXTR, SRGAP3, LINC00312, LMCD1, SSUH2, RAD18, LMCD1-AS1, LOC101927394See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057696
26.
GRCh37:
Chr3:8080414-11282617
GRCh38:
Chr3:8038727-11240931
See casesLikely pathogenic
(Feb 18, 2011)
no assertion criteria providedVCV000146336
27.
GRCh37:
Chr3:8133352-8784272
GRCh38:
Chr3:8091665-8742586
CAV3, LINC00312, LMCD1, SSUH2, LMCD1-AS1See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057697
28.
GRCh37:
Chr3:8361812-9437652
GRCh38:
Chr3:8320124-9395968
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151834
29.
GRCh37:
Chr3:8775153
GRCh38:
Chr3:8733467
CAV3, SSUH2not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000683301
30.
GRCh37:
Chr3:8775215
GRCh38:
Chr3:8733529
CAV3, SSUH2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000669816
31.
GRCh37:
Chr3:8775220
GRCh38:
Chr3:8733534
CAV3, SSUH2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000669623
32.
GRCh37:
Chr3:8775223
GRCh38:
Chr3:8733537
CAV3, SSUH2not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000668647
33.
GRCh37:
Chr3:8775295
GRCh38:
Chr3:8733609
CAV3, SSUH2not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000680163
34.
GRCh37:
Chr3:8775379
GRCh38:
Chr3:8733693
CAV3, SSUH2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000671893
35.
GRCh37:
Chr3:8775441
GRCh38:
Chr3:8733755
CAV3, SSUH2not providednot provided
(Apr 15, 2012)
no assertion providedVCV000031726
36.
GRCh37:
Chr3:8775457
GRCh38:
Chr3:8733771
CAV3, SSUH2not providednot provided
(Apr 15, 2012)
no assertion providedVCV000031746
37.
GRCh37:
Chr3:8775496-8788451
GRCh38:
Chr3:8733810-8746765
CAV3, SSUH2not providednot provided
(Apr 15, 2012)
no assertion providedVCV000031751
38.
GRCh37:
Chr3:8775515
GRCh38:
Chr3:8733829
CAV3, SSUH2not specifiedLikely benign
(Jun 17, 2016)
criteria provided, single submitterVCV000386097
39.
GRCh37:
Chr3:8775516
GRCh38:
Chr3:8733830
CAV3, SSUH2not specifiedBenign
(Apr 28, 2015)
criteria provided, single submitterVCV000377626
40.
GRCh37:
Chr3:8775526
GRCh38:
Chr3:8733840
CAV3, SSUH2not specified, not provided, Romano-Ward syndrome,
Caveolinopathy, Hypertrophic cardiomyopathy, Limb-Girdle Muscular Dystrophy, Dominant,
Long QT syndrome
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000031739
41.
GRCh37:
Chr3:8775530
GRCh38:
Chr3:8733844
CAV3, SSUH2not specifiedLikely benign
(Apr 20, 2017)
criteria provided, single submitterVCV000388403
42.
GRCh37:
Chr3:8775530
GRCh38:
Chr3:8733844
SSUH2, CAV3Limb-Girdle Muscular Dystrophy, Dominant, Romano-Ward syndrome, not specified,
Long QT syndrome, Caveolinopathy, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000180795
43.
GRCh37:
Chr3:8775534
GRCh38:
Chr3:8733848
CAV3, SSUH2not specifiedLikely benign
(Apr 20, 2017)
criteria provided, single submitterVCV000506663
44.
GRCh37:
Chr3:8775548
GRCh38:
Chr3:8733862
CAV3, SSUH2not specifiedBenign
(May 18, 2014)
criteria provided, single submitterVCV000136660
45.
GRCh37:
Chr3:8775553-8787563
GRCh38:
Chr3:8733867-8745877
CAV3, SSUH2Long QT syndromePathogenic
(Oct 13, 2018)
criteria provided, single submitterVCV000662861
46.
GRCh37:
Chr3:8775553-8787563
GRCh38:
Chr3:8733867-8745877
CAV3, SSUH2Long QT syndromeUncertain significance
(Dec 5, 2018)
criteria provided, single submitterVCV000648527
47.
GRCh37:
Chr3:8775561
GRCh38:
Chr3:8733875
CAV3, SSUH2not specified, not provided, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Jul 26, 2017)
criteria provided, conflicting interpretationsVCV000193476
48.
GRCh37:
Chr3:8775562
GRCh38:
Chr3:8733876
CAV3, SSUH2not specified, Cardiovascular phenotype, not provided
Benign/Likely benign
(Dec 11, 2017)
criteria provided, multiple submitters, no conflictsVCV000046531
49.
GRCh37:
Chr3:8775568-8775569
GRCh38:
Chr3:8733882-8733883
CAV3, SSUH2M2fsnot specified, Long QT syndromeConflicting interpretations of pathogenicity
(Jul 5, 2018)
criteria provided, conflicting interpretationsVCV000409261
50.
GRCh37:
Chr3:8775572-8775579
GRCh38:
Chr3:8733886-8733893
CAV3, SSUH2E4fsnot provided, Long QT syndromePathogenic
(Dec 26, 2018)
criteria provided, multiple submitters, no conflictsVCV000290919
51.
GRCh37:
Chr3:8775575
GRCh38:
Chr3:8733889
CAV3, SSUH2not providednot providedno assertion providedVCV000132982
52.
GRCh37:
Chr3:8775577
GRCh38:
Chr3:8733891
CAV3, SSUH2E5Dnot providedUncertain significance
(Dec 8, 2017)
criteria provided, single submitterVCV000618551
53.
GRCh37:
Chr3:8775589
GRCh38:
Chr3:8733903
CAV3, SSUH2Rippling muscle disease 2, Distal myopathy, Tateyama type, Limb-Girdle Muscular Dystrophy, Dominant,
Cardiovascular phenotype, not specified, not provided,
Romano-Ward syndrome, Long QT syndrome, Caveolinopathy,
Hypertrophic cardiomyopathy
Benign/Likely benign
(Mar 6, 2019)
criteria provided, multiple submitters, no conflictsVCV000031716
54.
GRCh37:
Chr3:8775590
GRCh38:
Chr3:8733904
CAV3, SSUH2E10KLong QT syndrome, not specifiedConflicting interpretations of pathogenicity
(Mar 9, 2018)
criteria provided, conflicting interpretationsVCV000180803
55.
GRCh37:
Chr3:8775592
GRCh38:
Chr3:8733906
CAV3, SSUH2not specifiedBenign
(Jan 15, 2014)
criteria provided, single submitterVCV000136661
56.
GRCh37:
Chr3:8775594
GRCh38:
Chr3:8733908
CAV3, SSUH2A11VCardiovascular phenotype, Long QT syndromeUncertain significance
(Nov 20, 2017)
criteria provided, multiple submitters, no conflictsVCV000519540
57.
GRCh37:
Chr3:8775598
GRCh38:
Chr3:8733912
CAV3, SSUH2Q12HLong QT syndromeUncertain significance
(Oct 10, 2017)
criteria provided, single submitterVCV000526920
58.
GRCh37:
Chr3:8775599
GRCh38:
Chr3:8733913
CAV3, SSUH2I13FLong QT syndromeLikely pathogenicno assertion criteria providedVCV000207882
59.
GRCh37:
Chr3:8775601
GRCh38:
Chr3:8733915
CAV3, SSUH2not specified, not providedLikely benign
(Dec 14, 2018)
criteria provided, multiple submitters, no conflictsVCV000179005
60.
GRCh37:
Chr3:8775602
GRCh38:
Chr3:8733916
CAV3, SSUH2V14ICardiovascular phenotype, not specified, not provided,
Cardiomyopathy
Conflicting interpretations of pathogenicity
(Mar 1, 2019)
criteria provided, conflicting interpretationsVCV000162827
61.
GRCh37:
Chr3:8775602
GRCh38:
Chr3:8733916
CAV3, SSUH2V14Lnot provided, Long QT syndrome 9Pathogenic
(Feb 1, 2007)
no assertion criteria providedVCV000008295
62.
GRCh37:
Chr3:8775613
GRCh38:
Chr3:8733927
CAV3, SSUH2not specifiedLikely benign
(May 15, 2017)
criteria provided, single submitterVCV000509569
63.
GRCh37:
Chr3:8775615
GRCh38:
Chr3:8733929
CAV3, SSUH2H18Rnot providedUncertain significance
(Aug 13, 2014)
criteria provided, single submitterVCV000180804
64.
GRCh37:
Chr3:8775616
GRCh38:
Chr3:8733930
CAV3, SSUH2not specified, not providedLikely benign
(Jun 9, 2016)
criteria provided, multiple submitters, no conflictsVCV000241748
65.
GRCh37:
Chr3:8775618
GRCh38:
Chr3:8733932
CAV3, SSUH2C19YLong QT syndromeUncertain significance
(Oct 31, 2018)
criteria provided, single submitterVCV000651297
66.
GRCh37:
Chr3:8775622
GRCh38:
Chr3:8733936
CAV3, SSUH2not providedLikely benign
(Jan 21, 2019)
criteria provided, single submitterVCV000798090
67.
GRCh37:
Chr3:8775641
GRCh38:
Chr3:8733955
CAV3, SSUH2R27Gnot providednot provided
(Apr 15, 2012)
no assertion providedVCV000031722
68.
GRCh37:
Chr3:8775642
GRCh38:
Chr3:8733956
SSUH2, CAV3R27Pnot providednot provided
(Apr 15, 2012)
no assertion providedVCV000031747
69.
GRCh37:
Chr3:8775642
GRCh38:
Chr3:8733956
CAV3, SSUH2R27Qnot provided, Long QT syndrome, Distal myopathy, Tateyama type,
Rippling muscle disease 2, Elevated serum creatine phosphokinase
Pathogenic
(Dec 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000008283
70.
GRCh37:
Chr3:8775646
GRCh38:
Chr3:8733960
CAV3, SSUH2D28Enot provided, Rippling muscle disease 2Pathogenic
(Jan 1, 2005)
no assertion criteria providedVCV000008280
71.
GRCh37:
Chr3:8775647
GRCh38:
Chr3:8733961
CAV3, SSUH2P29SLong QT syndromeUncertain significance
(Dec 6, 2017)
criteria provided, single submitterVCV000526918
72.
GRCh37:
Chr3:8775647
GRCh38:
Chr3:8733961
CAV3, SSUH2P29Tnot providednot provided
(Apr 15, 2012)
no assertion providedVCV000031712
73.
GRCh37:
Chr3:8775648
GRCh38:
Chr3:8733962
CAV3, SSUH2P29Lnot provided, Elevated serum creatine phosphokinasePathogenic
(Jan 1, 2005)
no assertion criteria providedVCV000008287
74.
GRCh37:
Chr3:8775650
GRCh38:
Chr3:8733964
CAV3, SSUH2K30*not specified, not providedUncertain significance
(Feb 14, 2012)
criteria provided, single submitterVCV000180805
75.
GRCh37:
Chr3:8775651
GRCh38:
Chr3:8733965
CAV3, SSUH2K30RLong QT syndrome 9Uncertain significance
(Nov 16, 2018)
criteria provided, single submitterVCV000637987
76.
GRCh37:
Chr3:8775654
GRCh38:
Chr3:8733968
CAV3, SSUH2N31Inot providedUncertain significance
(Sep 28, 2015)
criteria provided, single submitterVCV000283641
77.
GRCh37:
Chr3:8775661-8775664
GRCh38:
Chr3:8733975-8733978
CAV3, SSUH2Long QT syndromeUncertain significance
(Sep 25, 2018)
criteria provided, single submitterVCV000577351
78.
GRCh37:
Chr3:8775661
GRCh38:
Chr3:8733975
CAV3, SSUH2N33KLong QT syndromeUncertain significance
(May 25, 2017)
criteria provided, single submitterVCV000457133
79.
GRCh37:
Chr3:8775661
GRCh38:
Chr3:8733975
CAV3, SSUH2Rippling muscle disease 2, Distal myopathy, Tateyama type, Limb-Girdle Muscular Dystrophy, Dominant,
Cardiovascular phenotype, not specified, not provided,
Romano-Ward syndrome, Long QT syndrome, Caveolinopathy,
Hypertrophic cardiomyopathy
Benign/Likely benign
(Mar 6, 2019)
criteria provided, multiple submitters, no conflictsVCV000031709
80.
GRCh37:
Chr3:8775661
GRCh38:
Chr3:8733975
CAV3, SSUH2N33KDistal myopathy, Tateyama typePathogenic
(Jan 1, 2005)
no assertion criteria providedVCV000008289
81.
GRCh37:
Chr3:8775662
GRCh38:
Chr3:8733976
CAV3, SSUH2E34Knot provided, Long QT syndrome, Cardiomyopathy,
Rippling muscle disease 2
Conflicting interpretations of pathogenicity
(May 29, 2018)
criteria provided, conflicting interpretationsVCV000031730
82.
GRCh37:
Chr3:8775671
GRCh38:
Chr3:8733985
CAV3, SSUH2V37LLong QT syndrome, not providedUncertain significance
(Jul 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000096239
83.
GRCh37:
Chr3:8775672
GRCh38:
Chr3:8733986
CAV3, SSUH2V37ACardiovascular phenotypeUncertain significance
(Jul 15, 2015)
criteria provided, single submitterVCV000264147
84.
GRCh37:
Chr3:8775678
GRCh38:
Chr3:8733992
CAV3, SSUH2not providednot provided
(Apr 15, 2012)
no assertion providedVCV000031740
85.
GRCh37:
Chr3:8775681
GRCh38:
Chr3:8733995
CAV3, SSUH2Long QT syndromeUncertain significance
(Oct 24, 2017)
criteria provided, single submitterVCV000526971
86.
GRCh37:
Chr3:8775684
GRCh38:
Chr3:8733998
CAV3, SSUH2not specifiedLikely benign
(Feb 17, 2016)
criteria provided, single submitterVCV000383969
87.
GRCh37:
Chr3:8775696
GRCh38:
Chr3:8734010
CAV3, SSUH2not specifiedLikely benign
(Apr 21, 2016)
criteria provided, single submitterVCV000385646
88.
GRCh37:
Chr3:8775702
GRCh38:
Chr3:8734016
CAV3, SSUH2not providednot provided
(Apr 15, 2012)
no assertion providedVCV000031723
89.
GRCh37:
Chr3:8775775
GRCh38:
Chr3:8734089
CAV3, SSUH2not providednot provided
(Apr 15, 2012)
no assertion providedVCV000031724
90.
GRCh37:
Chr3:8775847
GRCh38:
Chr3:8734161
CAV3, SSUH2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000672199
91.
GRCh37:
Chr3:8786897
GRCh38:
Chr3:8745211
CAV3not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000683325
92.
GRCh37:
Chr3:8786897
GRCh38:
Chr3:8745211
CAV3not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000668825
93.
GRCh37:
Chr3:8787123
GRCh38:
Chr3:8745437
CAV3not providedBenign
(Jun 16, 2018)
criteria provided, single submitterVCV000031725
94.
GRCh37:
Chr3:8787167
GRCh38:
Chr3:8745481
CAV3not specifiedLikely benigncriteria provided, single submitterVCV000262222
95.
GRCh37:
Chr3:8787167-8787183
GRCh38:
Chr3:8745481-8745497
CAV3not specified, not providedLikely benigncriteria provided, single submitterVCV000031736
96.
GRCh37:
Chr3:8787189
GRCh38:
Chr3:8745503
CAV3not specified, not providedBenigncriteria provided, single submitterVCV000031737
97.
GRCh37:
Chr3:8787199
GRCh38:
Chr3:8745513
CAV3not specifiedLikely benign
(Oct 5, 2017)
criteria provided, multiple submitters, no conflictsVCV000046532
98.
GRCh37:
Chr3:8787203
GRCh38:
Chr3:8745517
CAV3not providedLikely benign
(Nov 16, 2018)
criteria provided, single submitterVCV000795364
99.
GRCh37:
Chr3:8787203
GRCh38:
Chr3:8745517
CAV3not specifiedLikely benign
(Jan 25, 2018)
criteria provided, single submitterVCV000515050
100.
GRCh37:
Chr3:8787206
GRCh38:
Chr3:8745520
CAV3not providedLikely benign
(Jun 18, 2018)
criteria provided, single submitterVCV000757122
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