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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr3:61891-11263288
GRCh38:
Chr3:20213-11221602
See casesPathogenic
(Mar 24, 2014)
no assertion criteria providedVCV000153284
2.
GRCh37:
Chr3:73914-10364808
GRCh38:
Chr3:32241-10323124
See casesPathogenic
(Jan 9, 2013)
no assertion criteria providedVCV000155258
3.
GRCh37:
Chr3:73914-10672995
GRCh38:
Chr3:32241-10631310
See casesPathogenic
(Dec 10, 2012)
no assertion criteria providedVCV000155106
4.
GRCh37:
Chr3:73914-13655318
GRCh38:
Chr3:32241-13613818
See casesPathogenic
(Aug 2, 2012)
no assertion criteria providedVCV000150031
5.
GRCh37:
Chr3:73914-11421309
GRCh38:
Chr3:32241-11379835
See casesPathogenic
(Jul 11, 2011)
no assertion criteria providedVCV000149331
6.
GRCh37:
Chr3:73914-12722982
GRCh38:
Chr3:32241-12681483
See casesPathogenic
(Feb 10, 2012)
no assertion criteria providedVCV000149085
7.
GRCh37:
Chr3:73914-30105699
GRCh38:
Chr3:32241-30064208
ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2, ATP2B2-IT2, AZI2, 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, LOC339862, 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, 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, UBE2E1-AS1, TMEM43, TOP2B, TRNT1, TSEN2, TTLL3, UBE2E1, UBE2E2, UBE2E2-DT, VGLL4, VHL, WNT7A, XPC, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2
See casesPathogenic
(Dec 16, 2011)
no assertion criteria providedVCV000148942
8.
GRCh37:
Chr3:73914-20375879
GRCh38:
Chr3:32241-20334387
ATP2B2, ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ATG7, ATP2B2-IT2, 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, LOC339862, LOC401052, LRRN1, LSM3, METTL6, MIR12127, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4790, MIR4791, MIR563, MIR885, MKRN2, MKRN2OS, MRPS25, MTMR14, NR2C2, NUP210, OGG1, OXNAD1, OXTR, PLCL2, 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, TRNT1, TSEN2, TTLL3, VGLL4, VHL, WNT7A, XPC
See casesPathogenic
(Nov 11, 2011)
no assertion criteria providedVCV000148876
9.
GRCh37:
Chr3:93749-20321619
GRCh38:
Chr3:52066-20280127
PRRT3-AS1, SLC6A11, SNORA93, SEC13, LOC114803475, CAND2, LOC107303341, LOC121009642, SRGAP3-AS2, MIR885, IQSEC1, MIR3714, MIR3135A, SNORA7A, ATP2B2, MKRN2, CAPN7, SUMF1, LOC105376975, LINC02011, METTL6, IL17RE, HACL1, CAV3, DAZL, EGOT, SLC6A1, TATDN2, CIDEC, SRGAP3, RPL32, SETMAR, GHRL, ARPC4, CNTN4-AS1, PRRT3, SGO1, FBLN2, FANCD2OS, LOC121009639, TRNT1, SGO1-AS1, C3orf20, BHLHE40, LMCD1-AS1, LOC107303340, LSM3, CNTN4-AS2, LOC121009638, KAT2B, RAB5A, LOC339862, THUMPD3-AS1, LOC121009640, IL5RA, LOC101927394, SH3BP5, LOC112903834, DPH3, GRM7-AS1, ITPR1-DT, TSEN2, MRPS25, MIR4790, FGD5, OGG1, ATG7, LINC00620, TIMP4, LOC107522035, VGLL4, CHL1, LOC121009651, LOC115995506, CNTN6, LOC121009636, LOC121009641, BTD, CAMK1, NR2C2, HDAC11, CRELD1, SRGAP3-AS3, FANCD2, LOC112935902, LINC00690, LINC01266, LOC401052, LOC114004374, JAGN1, GRM7-AS2, MKRN2OS, ARPC4-TTLL3, RAF1, SH3BP5-AS1, MIR12127, LOC115995504, MIR563, HRH1, CHL1-AS2, OXNAD1, PPARG, RPUSD3, ATP2B2-IT2, CPNE9, OXTR, SATB1-AS1, MIR4791, SRGAP3-AS4, LOC121009644, EMC3-AS1, CCDC174, SSUH2, FGD5-AS1, LOC121009637, LOC107457584, SLC6A6, LOC121009643, TAMM41, LOC110120630, GRM7-AS3, LHFPL4, PLCL2, LOC112935931, XPC, EMC3, PP2D1, TMEM43, CHL1-AS1, LOC107303337, ARL8B, SETD5, IL17RC, LINC00852, LOC121009652, TADA3, EDEM1, CHCHD4, LMCD1, GRIP2, LOC108254666, ANKRD28, BRPF1, SLC6A1-AS1, GRM7, EFHB, MIR3134, LOC111501788, LOC112268445, THUMPD3, COLQ, BHLHE40-AS1, HDAC11-AS1, GHRLOS, LOC112935963, LOC107522028, ITPR1, LOC111429626, IRAK2, LOC100130207, CNTN4, LINC02022, VHL, EAF1, SATB1, LOC107303338, NUP210, LOC115995507, MTMR14, MIR378B, BRK1, TTLL3, LRRN1, LOC115995505, RBSN, SYN2, LINC01267, LINC00606, TBC1D5, LOC107303339, GALNT15, LOC112841609, LOC112848342, RFTN1, LOC112903841, WNT7A, LOC107303342, LOC112935932, KCNH8, CRBN, TMEM40, RAD18, MIR4270, LINC00312
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057948
10.
GRCh37:
Chr3:93949-11131255
GRCh38:
Chr3:52266-11089569
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057708
11.
GRCh37:
Chr3:93949-37189567
GRCh38:
Chr3:52266-37148076
CAND2, OXTR, SGO1, ANKRD28, WNT7A, LOC121009652, LOC100130207, LHFPL4, LOC111429626, NUP210, RAF1, EGOT, LOC115995506, LOC111365150, LOC107303337, ARL8B, LOC121009644, MKRN2, CNTN6, BRPF1, LOC101928135, LRRC3B-AS1, GRM7-AS2, LINC02011, LOC115995504, MIR4270, SETMAR, NR1D2, LOC112935927, LOC121009656, LOC101927829, RBMS3, PRRT3-AS1, AZI2, SLC6A11, SLC6A1-AS1, LOC110120630, LOC112903834, LOC107522028, CAV3, ZNF860, LINC02033, ZNF385D-AS1, LINC01267, UBE2E1-AS1, STAC, HRH1, THUMPD3-AS1, PPARG, SLC6A6, LOC111501778, LOC339862, LMCD1-AS1, MIR3714, NGLY1, MIR378B, LOC115995505, RARB-AS1, LOC111365223, SEC13, LSM3, IRAK2, CHCHD4, SETD5, UBE2E2, EDEM1, MIR466, LOC112935963, EFHB, VHL, SNORA7A, RBSN, CMTM8, LOC121009641, LOC112848342, SATB1, PDCD6IP-DT, LOC401052, LRRC3B, LINC02022, METTL6, TMPPE, CCDC174, DCLK3, PP2D1, RPUSD3, SUSD5, LOC121009636, LOC105376975, KCNH8, MRPS25, RAB5A, CAPN7, HACL1, CPNE9, SH3BP5, GHRLOS, ARPP21, FANCD2OS, CIDEC, CCR4, NEK10, LOC112935931, LOC121009639, STT3B, TMEM40, MKRN2OS, LOC107303339, ZCWPW2, OSBPL10, COLQ, CMC1, TSEN2, LOC121009654, GPD1L, FBLN2, TADA3, MIR128-2, OXNAD1, LOC121009637, GALNT15, GADL1, SATB1-AS1, LOC121009653, EAF1, PLCL2, ITPR1-DT, ATP2B2-IT2, MIR12127, RFTN1, LINC00693, TIMP4, LINC01980, MIR563, ARPC4-TTLL3, LOC107133518, LOC112935902, LINC01981, SYN2, SRGAP3-AS4, LINC00690, MIR4792, THRB-AS2, DYNC1LI1, HDAC11-AS1, MIR548AY, TMEM43, RPL15, LOC121009638, IL17RC, KAT2B, PRRT3, GLB1, FGD5-AS1, LOC121009657, MIR4790, CHL1, LOC107303340, IL17RE, IQSEC1, CNTN4, LOC121009651, BTD, RARB, LOC107522035, MIR4442, CRELD1, LINC01266, CRTAP, LOC107457584, TOP2B, CRBN, UBE2E1, FANCD2, CMTM6, LRRFIP2, LOC115995507, PDCD6IP, RAD18, THRB, EMC3, RPL32, CMTM7, THUMPD3, CHL1-AS1, LOC114004374, IL5RA, FGD5, LOC111501788, ZNF385D, XPC, TAMM41, LOC114803475, GRIP2, LINC00620, CNOT10, FBXL2, EPM2AIP1, SH3BP5-AS1, NR2C2, LOC107303338, LOC112935928, RBMS3-AS2, TBC1D5, C3orf20, OXSM, RBMS3-AS3, TRIM71, ATP2B2, JAGN1, VGLL4, EOMES, MLH1, MTMR14, TATDN2, THRB-AS1, EMC3-AS1, LINC00312, LOC112903841, LOC121009640, ATG7, LOC108254666, LOC107303342, LOC115995508, GHRL, DAZL, CNTN4-AS2, CAMK1, MIR4791, RBMS3-AS1, BRK1, LINC00692, LOC121009643, NKIRAS1, LINC01811, SLC4A7, LINC02084, MIR3134, OGG1, LOC112935932, SSUH2, CLASP2, LOC107303341, OSBPL10-AS1, CNTN4-AS1, LOC110121143, SRGAP3-AS3, LINC00852, CHL1-AS2, MIR3135A, TRANK1, LOC111465009, TTLL3, GRM7, LMCD1, GRM7-AS1, ZNF385D-AS2, SRGAP3-AS2, TRNT1, LRRN1, DPH3, ARPC4, BHLHE40-AS1, GRM7-AS3, LOC101927394, HDAC11, LOC112268445, LOC121009642, SNORA93, LINC00691, SGO1-AS1, SUMF1, LINC00606, TGFBR2, LINC01985, BHLHE40, ITPR1, LOC121009655, LOC112841609, UBP1, MIR885, SRGAP3, UBE2E2-DT, SLC6A1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057397
12.
GRCh37:
Chr3:94991-41423012
GRCh38:
Chr3:53308-41381521
ACAA1, ATG7, ATP2B2, CAND2, CLASP2, CRELD1, EFHB, EGOT, FBLN2, GLB1, GOLGA4, HRH1, IL17RC, KCNH8, LINC01985, LINC02011, LOC107303338, LOC107303339, LOC111365149, LOC111365150, LOC112935930, LOC112935931, LOC115995507, LOC115995508, LOC121009652, LOC121009653, LRRN1, MIR4792, MIR548AY, OGG1, PLCD1, RBMS3-AS2, SGO1-AS1, SH3BP5, SRGAP3-AS2, SRGAP3-AS3, TATDN2, UBE2E1-AS1, UBE2E2, ZNF621, ZNF860, UBE2E2-DT, UBP1, XYLB, TTC21A, TTLL3, UBE2E1, ULK4, VGLL4, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, SRGAP3-AS4, SSUH2, ZNF619, ZNF620, STAC, STT3B, SUMF1, SUSD5, SYN2, TADA3, TAMM41, THUMPD3-AS1, TIMP4, TMEM40, TSEN2, SH3BP5-AS1, SLC22A13, SLC6A11, SNORA6, SCN11A, RBSN, RFTN1, SNORA62, SNORA7A, SNORA93, SRGAP3, PLCL2, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, SLC6A6, RBMS3-AS3, RPL14, OSBPL10, OXTR, MKRN2, MKRN2OS, NEK10, NGLY1, NKIRAS1, NR1D2, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, PDCD6IP, PDCD6IP-DT, LSM3, MIR378B, MIR4270, MIR4442, METTL6, MIR12127, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR466, MIR4790, MIR4791, SCN10A, MIR563, MIR6822, NR2C2, NUP210, LOC121009654, LOC121009655, LRRC3B, LRRC3B-AS1, LRRFIP2, LOC121009640, LOC121009641, LOC121009644, LOC121009651, LOC121009656, LOC121009657, LOC121009658, LOC339862, LOC401052, MIR885, LOC112935934, LOC112935935, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995509, LOC120285841, LOC121009642, LOC121009643, LOC121009636, LOC121009637, LOC111365223, LOC111429626, LOC111465007, LOC111465009, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC111501778, LOC111501788, LOC112268445, LOC107522035, LOC112841609, LOC112848342, LOC112935928, LOC112935929, LOC121009638, LOC121009639, LOC112935932, LOC112935933, LOC107303340, LOC107303341, LOC107303342, LOC101927394, LOC101927829, LOC107133518, LOC107303337, LINC02084, LMCD1, LOC101928135, LOC105376975, LOC107457584, LOC107522028, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LHFPL4, LINC00312, LINC00693, LINC00852, LINC01266, LINC01267, LINC01811, LINC01980, LINC01981, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LOC110121287, LOC110121288, LINC02022, LINC02033, LMCD1-AS1, LOC100130207, IL17RE, IL5RA, IRAK2, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, ITPR1, ITPR1-DT, JAGN1, KAT2B, IQSEC1, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GHRLOS, GHRL, ITGA9, ITGA9-AS1, GOLGA4-AS1, GORASP1, GRIP2, GRM7, EIF1B, EIF1B-AS1, EMC3, EMC3-AS1, ENTPD3, ENTPD3-AS1, EAF1, EDEM1, EOMES, EPM2AIP1, EXOG, FANCD2, FANCD2OS, GPD1L, CMTM7, CNOT10, CRBN, CMTM6, CMTM8, CRTAP, CSRNP1, CTDSPL, CAPN7, CAV3, CCDC174, CHL1, CHL1-AS1, CCR4, CCR8, CAMK1, CHCHD4, CHL1-AS2, CIDEC, DYNC1LI1, CMC1, ATP2B2-IT2, AZI2, ARPP21, ANKRD28, APRG1, ARL8B, BTD, C3orf20, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, ACVR2B, ACVR2B-AS1, ARPC4, ARPC4-TTLL3, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CTNNB1, CX3CR1, DAZL, DCLK3, DLEC1, DPH3, MLH1, MOBP, MRPS25, MTMR14, MYD88, MYRIP, RPL15, RPL32, RPSA, RPUSD3, SATB1, SATB1-AS1, SCN5A, SEC13, SETD5, SETMAR, SGO1, SLC22A14, SLC25A38, SLC4A7, SLC6A1, SLC6A1-AS1, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, THUMPD3, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TRNT1, VHL, VILL, WDR48, WNT7A, XIRP1, XPC
See casesPathogenic
(Jun 4, 2013)
no assertion criteria providedVCV000153415
13.
GRCh37:
Chr3:105526-19552092
GRCh38:
Chr3:63843-19510600
MIR4790, LOC111501788, ARPC4-TTLL3, ARL8B, THUMPD3, SATB1-AS1, MIR12127, CAPN7, SETD5, RAF1, TMEM40, LOC100130207, LOC107303342, ITPR1, BRK1, CNTN4, LMCD1-AS1, LINC01267, LHFPL4, CPNE9, ITPR1-DT, TRNT1, CAND2, LOC105376975, CHCHD4, WNT7A, RFTN1, LOC110120630, TAMM41, CRELD1, VHL, SRGAP3-AS4, CHL1-AS2, PRRT3, ARPC4, RPUSD3, SRGAP3-AS2, GHRL, IRAK2, SLC6A1-AS1, CCDC174, MIR885, OXNAD1, ATG7, LINC00606, CHL1, BTD, LOC121009641, MKRN2, SATB1, MIR4270, LOC111429626, FGD5, TADA3, FGD5-AS1, GRM7-AS1, SRGAP3-AS3, IL17RC, COLQ, MIR3714, LOC114004374, LOC121009652, LOC339862, RPL32, TSEN2, CNTN4-AS1, LOC107303340, LSM3, GRM7, LOC107522035, LOC121009639, HACL1, LOC108254666, C3orf20, CAMK1, LOC121009643, FANCD2OS, PPARG, LMCD1, CNTN4-AS2, LOC112268445, XPC, FANCD2, LOC101927394, LOC107303338, PLCL2, SLC6A11, MIR3134, GHRLOS, LOC115995505, SUMF1, SRGAP3, LOC121009642, RBSN, LINC00690, LINC02022, FBLN2, RAD18, LOC112935902, LINC00852, EAF1, BHLHE40-AS1, SEC13, CAV3, TTLL3, LOC112848342, EGOT, IL5RA, PRRT3-AS1, LOC107522028, SYN2, LINC01266, LINC00312, LOC107303341, NR2C2, SH3BP5, LOC112935963, DPH3, LOC121009644, METTL6, LOC121009651, SH3BP5-AS1, JAGN1, CHL1-AS1, MIR378B, GALNT15, NUP210, MTMR14, EMC3-AS1, IQSEC1, HRH1, BRPF1, KCNH8, LOC112935931, LOC115995504, ANKRD28, SETMAR, MRPS25, LOC107303337, HDAC11, CNTN6, LOC115995506, LOC107303339, CIDEC, GRM7-AS3, HDAC11-AS1, OXTR, TBC1D5, BHLHE40, SNORA7A, EDEM1, LOC401052, LOC112903834, LOC114803475, LOC112903841, LOC121009637, MKRN2OS, LOC121009636, SSUH2, CRBN, LINC02011, LRRN1, TIMP4, LOC112841609, LOC121009640, LOC121009638, IL17RE, TATDN2, LOC112935932, LOC107457584, SLC6A1, GRIP2, DAZL, TMEM43, THUMPD3-AS1, LINC00620, MIR563, GRM7-AS2, ATP2B2-IT2, SNORA93, OGG1, SLC6A6, MIR4791, ATP2B2, VGLL4, EMC3
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057977
14.
GRCh37:
Chr3:730581-11092828
GRCh38:
Chr3:688897-11051142
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000155639
15.
GRCh37:
Chr3:7397797-14401942
GRCh38:
Chr3:7356110-14360442
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155699
16.
GRCh37:
Chr3:8017421-12678416
GRCh38:
Chr3:7975734-12636917
See casesLikely pathogenic
(Aug 5, 2011)
no assertion criteria providedVCV000148234
17.
GRCh37:
Chr3:8080414-11282617
GRCh38:
Chr3:8038727-11240931
See casesLikely pathogenic
(Feb 18, 2011)
no assertion criteria providedVCV000146336
18.
GRCh37:
Chr3:8983307-10193436
GRCh38:
Chr3:8941623-10151752
See casesUncertain significance
(Aug 13, 2012)
no assertion criteria providedVCV000149536
19.
GRCh37:
Chr3:9436558-11732086
GRCh38:
Chr3:9394874-11690612
See casesPathogenic
(Apr 21, 2011)
no assertion criteria providedVCV000148359
20.
GRCh37:
Chr3:9695981-10270371
GRCh38:
Chr3:9654297-10228687
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057742
21.
GRCh37:
Chr3:9917593-10614361
GRCh38:
Chr3:9875909-10572677
See casesPathogenic
(Sep 12, 2011)
no assertion criteria providedVCV000148687
22.
GRCh37:
Chr3:9937745-10262646
GRCh38:
Chr3:9896061-10220962
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000144845
23.
GRCh37:
Chr3:10061464-12292857
GRCh38:
Chr3:10019780-12251358
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057766
24.
GRCh37:
Chr3:10094061-10191659
GRCh38:
Chr3:10052377-10149975
FANCD2, VHL, BRK1, FANCD2OS, LOC107303338, LOC107303339, LOC107303340Erythrocytosis, familial, 2, Von Hippel-Lindau syndromePathogenic
(Mar 31, 2019)
criteria provided, single submitterVCV000665653
25.
GRCh37:
Chr3:10094061-10191659
GRCh38:
Chr3:10052377-10149975
FANCD2, VHL, BRK1, FANCD2OS, LOC107303338, LOC107303339, LOC107303340Erythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(May 14, 2019)
criteria provided, single submitterVCV000654670
26.
GRCh37:
Chr3:10106403-10191659
GRCh38:
Chr3:10064719-10149975
FANCD2, VHL, BRK1, FANCD2OS, LOC107303338, LOC107303339, LOC107303340Von Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(May 18, 2018)
criteria provided, single submitterVCV000584124
27.
GRCh37:
Chr3:10106407-10188326
GRCh38:
Chr3:10064723-10146642
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHLFanconi anemiaPathogenic
(Jan 11, 2018)
criteria provided, single submitterVCV000526503
28.
GRCh38:
Chr3:10064723-10149971
FANCD2, VHL, BRK1, FANCD2OS, LOC107303338, LOC107303339, LOC107303340Von Hippel-Lindau syndrome, Erythrocytosis, familial, 2Pathogenic
(Dec 15, 2017)
criteria provided, single submitterVCV000456559
29.
GRCh37:
Chr3:10176798-10184122
GRCh38:
Chr3:10135114-10142438
VHL, LOC107303339, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997741
30.
GRCh37:
Chr3:10176799-10185225
GRCh38:
Chr3:10135115-10143541
VHL, LOC107303339, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997740
31.
GRCh37:
Chr3:10178706-10187161
GRCh38:
Chr3:10137022-10145477
VHL, LOC107303339, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997742
32.
GRCh37:
Chr3:10178786-10185041
GRCh38:
Chr3:10137102-10143357
VHL, LOC107303339, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997743
33.
GRCh37:
Chr3:10180892-10190625
GRCh38:
Chr3:10139208-10148941
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997746
34.
GRCh37:
Chr3:10181370-10184068
GRCh38:
Chr3:10139686-10142384
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997747
35.
GRCh37:
Chr3:10181438-10184136
GRCh38:
Chr3:10139754-10142452
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997748
36.
GRCh37:
Chr3:10182314-10190080
GRCh38:
Chr3:10140630-10148396
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997750
37.
GRCh37:
Chr3:10182405-10184202
GRCh38:
Chr3:10140721-10142518
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997754
38.
GRCh37:
Chr3:10183204-10184291
GRCh38:
Chr3:10141520-10142607
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997755
39.
GRCh38:
Chr3:10141635-10153670
VHL, LOC107303340Erythrocytosis, familial, 2, Von Hippel-Lindau syndromePathogenic
(Oct 22, 2016)
criteria provided, single submitterVCV000417800
40.
GRCh37:
Chr3:10183522-10191659
GRCh38:
Chr3:10141838-10149975
LOC107303340, VHLErythrocytosis, familial, 2, Von Hippel-Lindau syndromePathogenic
(Oct 3, 2018)
criteria provided, single submitterVCV000640445
41.
GRCh37:
Chr3:10183526-10191655
GRCh38:
Chr3:10141842-10149971
VHL, LOC107303340Von Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(May 4, 2018)
criteria provided, single submitterVCV000584027
42.
GRCh37:
Chr3:10184025-10184026
GRCh38:
Chr3:10142341-10142342
LOC107303340, VHLnot providedBenign
(Aug 15, 2019)
criteria provided, single submitterVCV001288206
43.
GRCh37:
Chr3:10184025-10184026
GRCh38:
Chr3:10142341-10142342
LOC107303340, VHLnot providedBenign
(Aug 11, 2019)
criteria provided, single submitterVCV001252914
44.
GRCh37:
Chr3:10184025-10184026
GRCh38:
Chr3:10142341-10142342
LOC107303340, VHLnot providedBenign
(Nov 19, 2019)
criteria provided, single submitterVCV001236922
45.
GRCh37:
Chr3:10184047-10190015
GRCh38:
Chr3:10142363-10148331
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997757
46.
GRCh37:
Chr3:10184144-10188809
GRCh38:
Chr3:10142460-10147125
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997758
47.
GRCh37:
Chr3:10184160-10190262
GRCh38:
Chr3:10142476-10148578
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997759
48.
GRCh37:
Chr3:10184219-10190545
GRCh38:
Chr3:10142535-10148861
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997721
49.
GRCh37:
Chr3:10184256-10190225
GRCh38:
Chr3:10142572-10148541
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997722
50.
GRCh37:
Chr3:10184309-10190278
GRCh38:
Chr3:10142625-10148594
VHL, LOC107303340Von Hippel-Lindau syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV000997723
51.
GRCh37:
Chr3:10184445
GRCh38:
Chr3:10142761
VHL, LOC107303340Erythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Apr 27, 2020)
criteria provided, single submitterVCV001040488
52.
GRCh37:
Chr3:10184448
GRCh38:
Chr3:10142764
LOC107303340, VHLVon Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Oct 25, 2020)
criteria provided, single submitterVCV000958390
53.
GRCh37:
Chr3:10184449
GRCh38:
Chr3:10142765
VHL, LOC107303340L115FErythrocytosis, familial, 2, Von Hippel-Lindau syndromeLikely benign
(Dec 4, 2020)
criteria provided, single submitterVCV000849869
54.
GRCh37:
Chr3:10184452
GRCh38:
Chr3:10142768
VHL, LOC107303340M116LErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Apr 2, 2020)
criteria provided, single submitterVCV001017368
55.
GRCh37:
Chr3:10184452
GRCh38:
Chr3:10142768
VHL, LOC107303340M116VErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Aug 26, 2020)
criteria provided, single submitterVCV000999884
56.
GRCh37:
Chr3:10184459
GRCh38:
Chr3:10142775
VHL, LOC107303340P118QErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Aug 11, 2020)
criteria provided, single submitterVCV001002607
57.
GRCh37:
Chr3:10184460
GRCh38:
Chr3:10142776
VHL, LOC107303340Erythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(May 4, 2020)
criteria provided, single submitterVCV001061733
58.
GRCh37:
Chr3:10184461
GRCh38:
Chr3:10142777
VHL, LOC107303340V119LVon Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Sep 16, 2020)
criteria provided, single submitterVCV000962288
59.
GRCh37:
Chr3:10184463
GRCh38:
Chr3:10142779
VHL, LOC107303340Von Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000940853
60.
GRCh37:
Chr3:10184465
GRCh38:
Chr3:10142781
VHL, LOC107303340G120VErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Mar 22, 2020)
criteria provided, single submitterVCV001063292
61.
GRCh37:
Chr3:10184466
GRCh38:
Chr3:10142782
VHL, LOC107303340Von Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Aug 28, 2019)
criteria provided, single submitterVCV000954194
62.
GRCh37:
Chr3:10184466
GRCh38:
Chr3:10142782
VHL, LOC107303340Erythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Oct 25, 2020)
criteria provided, single submitterVCV000851648
63.
GRCh37:
Chr3:10184472
GRCh38:
Chr3:10142788
VHL, LOC107303340F122LErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Sep 1, 2020)
criteria provided, single submitterVCV000856488
64.
GRCh37:
Chr3:10184475
GRCh38:
Chr3:10142791
VHL, LOC107303340Von Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Oct 26, 2020)
criteria provided, single submitterVCV000843883
65.
GRCh37:
Chr3:10184476
GRCh38:
Chr3:10142792
VHL, LOC107303340V124LErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Apr 23, 2020)
criteria provided, single submitterVCV001059088
66.
GRCh37:
Chr3:10184476
GRCh38:
Chr3:10142792
VHL, LOC107303340V124LErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001035413
67.
GRCh37:
Chr3:10184479
GRCh38:
Chr3:10142795
VHL, LOC107303340V125fsErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Nov 27, 2019)
criteria provided, single submitterVCV000862060
68.
GRCh37:
Chr3:10184485
GRCh38:
Chr3:10142801
VHL, LOC107303340A127SErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Aug 30, 2020)
criteria provided, single submitterVCV001054185
69.
GRCh37:
Chr3:10184486
GRCh38:
Chr3:10142802
VHL, LOC107303340A127DErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Jul 21, 2020)
criteria provided, single submitterVCV001025978
70.
GRCh37:
Chr3:10184487
GRCh38:
Chr3:10142803
VHL, LOC107303340Erythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Oct 20, 2020)
criteria provided, single submitterVCV000855991
71.
GRCh37:
Chr3:10184488
GRCh38:
Chr3:10142804
VHL, LOC107303340L128FErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Jun 22, 2020)
criteria provided, single submitterVCV001044992
72.
GRCh37:
Chr3:10184488
GRCh38:
Chr3:10142804
VHL, LOC107303340L128Vno interpretation for the single variantno interpretation for the single variantVCV000827582
73.
GRCh37:
Chr3:10184488
Chr3:10184519
GRCh38:
Chr3:10142804
Chr3:10142835
VHL, LOC107303340, VHL, LOC107303340L128V, L138PVon Hippel-Lindau syndromePathogenic
(Mar 5, 2020)
no assertion criteria providedVCV000816687
74.
GRCh37:
Chr3:10184489
GRCh38:
Chr3:10142805
VHL, LOC107303340L128RErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Jan 8, 2020)
criteria provided, single submitterVCV001006425
75.
GRCh37:
Chr3:10184492
GRCh38:
Chr3:10142808
VHL, LOC107303340V129AVon Hippel-Lindau syndrome, Erythrocytosis, familial, 2Likely benign
(Dec 3, 2020)
criteria provided, single submitterVCV001088219
76.
GRCh37:
Chr3:10184497
GRCh38:
Chr3:10142813
VHL, LOC107303340N131DErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Jan 27, 2020)
criteria provided, single submitterVCV001015452
77.
GRCh37:
Chr3:10184498-10184499
GRCh38:
Chr3:10142814-10142815
LOC107303340, VHLT132fsErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Oct 6, 2020)
criteria provided, single submitterVCV001046926
78.
GRCh37:
Chr3:10184498
GRCh38:
Chr3:10142814
VHL, LOC107303340N131TVon Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Aug 25, 2019)
criteria provided, single submitterVCV000957361
79.
GRCh37:
Chr3:10184502
GRCh38:
Chr3:10142818
VHL, LOC107303340Erythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV001018691
80.
GRCh37:
Chr3:10184502
GRCh38:
Chr3:10142818
VHL, LOC107303340Erythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Sep 17, 2020)
criteria provided, single submitterVCV000836063
81.
GRCh37:
Chr3:10184504
GRCh38:
Chr3:10142820
VHL, LOC107303340F133SErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Apr 27, 2020)
criteria provided, single submitterVCV001060684
82.
GRCh37:
Chr3:10184505
GRCh38:
Chr3:10142821
VHL, LOC107303340Von Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Jun 22, 2020)
criteria provided, single submitterVCV000840469
83.
GRCh37:
Chr3:10184508
GRCh38:
Chr3:10142824
VHL, LOC107303340Von Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Oct 30, 2019)
criteria provided, single submitterVCV000953978
84.
GRCh37:
Chr3:10184509
GRCh38:
Chr3:10142825
VHL, LOC107303340L135VErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Aug 20, 2020)
criteria provided, single submitterVCV001010161
85.
GRCh37:
Chr3:10184512
GRCh38:
Chr3:10142828
VHL, LOC107303340G136RErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Feb 26, 2020)
criteria provided, single submitterVCV001008258
86.
GRCh37:
Chr3:10184514
GRCh38:
Chr3:10142830
VHL, LOC107303340Erythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Oct 27, 2020)
criteria provided, single submitterVCV001040619
87.
GRCh37:
Chr3:10184517
GRCh38:
Chr3:10142833
VHL, LOC107303340Erythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV000853675
88.
GRCh37:
Chr3:10184517
GRCh38:
Chr3:10142833
VHL, LOC107303340R137SVon Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Jun 22, 2020)
criteria provided, single submitterVCV000840470
89.
GRCh37:
Chr3:10184518
GRCh38:
Chr3:10142834
VHL, LOC107303340L138VErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001051758
90.
GRCh37:
Chr3:10184519
GRCh38:
Chr3:10142835
VHL, LOC107303340L138PErythrocytosis, familial, 2, Von Hippel-Lindau syndromeBenign
(Dec 8, 2020)
criteria provided, single submitterVCV000827583
91.
GRCh37:
Chr3:10184522
GRCh38:
Chr3:10142838
VHL, LOC107303340T139IErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Apr 16, 2020)
criteria provided, single submitterVCV000998867
92.
GRCh37:
Chr3:10184523-10184524
GRCh38:
Chr3:10142839-10142840
VHL, LOC107303340D140fsVon Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV000843241
93.
GRCh37:
Chr3:10184523
GRCh38:
Chr3:10142839
VHL, LOC107303340Von Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Oct 8, 2020)
criteria provided, single submitterVCV000842699
94.
GRCh37:
Chr3:10184536
GRCh38:
Chr3:10142852
VHL, LOC107303340G144fsErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Jun 11, 2020)
criteria provided, single submitterVCV001056260
95.
GRCh37:
Chr3:10184536
GRCh38:
Chr3:10142852
VHL, LOC107303340G144RErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Oct 27, 2020)
criteria provided, single submitterVCV000998502
96.
GRCh37:
Chr3:10184543
GRCh38:
Chr3:10142859
VHL, LOC107303340S146IVon Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Oct 20, 2020)
criteria provided, single submitterVCV000949542
97.
GRCh37:
Chr3:10184546
GRCh38:
Chr3:10142862
VHL, LOC107303340Q147RErythrocytosis, familial, 2, Von Hippel-Lindau syndromeUncertain significance
(Jan 2, 2020)
criteria provided, single submitterVCV001057078
98.
GRCh37:
Chr3:10184550
GRCh38:
Chr3:10142866
VHL, LOC107303340Von Hippel-Lindau syndrome, Erythrocytosis, familial, 2Benign
(Dec 3, 2020)
criteria provided, single submitterVCV001169843
99.
GRCh37:
Chr3:10184552
GRCh38:
Chr3:10142868
VHL, LOC107303340H149LVon Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Jul 29, 2019)
criteria provided, single submitterVCV000956223
100.
GRCh37:
Chr3:10184553
GRCh38:
Chr3:10142869
VHL, LOC107303340Von Hippel-Lindau syndrome, Erythrocytosis, familial, 2Uncertain significance
(Oct 1, 2019)
criteria provided, single submitterVCV000964770
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