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Items: 1 to 100 of 814

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
GRCh37:
Chr3:11504802-38961034
GRCh38:
Chr3:11463328-38919543
ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARPP21, ATG7, AZI2, BALR6, BTD, C3orf20, CAND2, CAPN7, CCDC174, CCR4, CHCHD4, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, COLQ, CRTAP, CTDSPL, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EFHB, EOMES, EPM2AIP1, EXOG, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GLB1, GOLGA4, GOLGA4-AS1, GPD1L, GRIP2, HACL1, HDAC11, HDAC11-AS1, IQSEC1, ITGA9, ITGA9-AS1, KAT2B, KCNH8, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107457584, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365150, LOC111365223, LOC111465007, LOC111465009, LOC111501778, LOC112268445, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC114803475, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC126806650, LOC126806651, LOC126806652, LRRC3B, LRRC3B-AS1, LRRFIP2, LSM3, METTL6, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR4270, MIR4442, MIR466, MIR4791, MIR4792, MIR548AY, MIR563, MKRN2, MKRN2OS, MLH1, MRPS25, MYD88, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, RAB5A, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, SATB1, SATB1-AS1, SCN10A, SCN11A, SCN5A, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC4A7, SLC6A6, SNORA7A, SNORA93, STAC, STT3B, SUSD5, SYN2, TAMM41, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TSEN2, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, VGLL4, VILL, WNT7A, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF860
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
8.
GRCh38:
Chr3:13371737-20095506
ANKRD28, BALR6, BTD, C3orf20, CAPN7, CCDC174, CHCHD4, COLQ, DAZL, DPH3, EAF1, EFHB, FBLN2, FGD5, FGD5-AS1, GALNT15, GRIP2, HACL1, HDAC11, HDAC11-AS1, KAT2B, KCNH8, LINC00620, LINC00690, LINC01267, LINC02011, LOC105376975, LOC107457584, LOC108254666, LOC110120630, LOC112268445, LOC112903834, LOC112903841, LOC112935902, LOC115995505, LOC115995506, LOC115995507, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LSM3, METTL6, MIR3134, MIR3714, MIR4270, MIR4791, MIR563, MRPS25, NR2C2, NUP210, OXNAD1, PLCL2, PLCL2-AS1, PP2D1, RAB5A, RBSN, RFTN1, SATB1, SATB1-AS1, SH3BP5, SH3BP5-AS1, SLC6A6, SNORA93, TBC1D5, TMEM43, WNT7A, XPC
3p- syndromePathogenic
(Aug 25, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr3:14166280
GRCh38:
Chr3:14124780
CHCHD4, TMEM43not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr3:14166394
GRCh38:
Chr3:14124894
TMEM43not providedBenign
(Jun 18, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr3:14166433
GRCh38:
Chr3:14124933
TMEM43not providedLikely benign
(Jul 20, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr3:14166440-14185180
GRCh38:
Chr3:14124940-14143680
TMEM43Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Dec 27, 2016)		criteria provided, single submitter
13.
GRCh37:
Chr3:14166552
GRCh38:
Chr3:14125052
TMEM43not providedBenign
(Mar 3, 2015)		criteria provided, single submitter
14.
GRCh37:
Chr3:14166663
GRCh38:
Chr3:14125163
TMEM43not providedBenign
(Mar 3, 2015)		criteria provided, single submitter
15.
GRCh37:
Chr3:14166679
GRCh38:
Chr3:14125179
TMEM43CardiomyopathyUncertain significance
(Feb 1, 2021)		criteria provided, single submitter
16.
GRCh37:
Chr3:14166683
GRCh38:
Chr3:14125183
TMEM43not specifiedLikely benign
(Nov 2, 2017)		criteria provided, single submitter
17.
GRCh37:
Chr3:14166688
GRCh38:
Chr3:14125188
TMEM43Hypertrophic cardiomyopathyUncertain significance
(Mar 1, 2019)		criteria provided, single submitter
18.
GRCh37:
Chr3:14166690
GRCh38:
Chr3:14125190
TMEM43Cardiovascular phenotype, not specified, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Jun 10, 2021)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr3:14166691
GRCh38:
Chr3:14125191
TMEM43Cardiovascular phenotype, CardiomyopathyUncertain significance
(Feb 12, 2020)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr3:14166691
GRCh38:
Chr3:14125191
TMEM43CardiomyopathyBenign/Likely benign
(Dec 10, 2018)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:14166692
GRCh38:
Chr3:14125192
TMEM43Cardiovascular phenotype, not specifiedLikely benign
(Jul 16, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:14166694
GRCh38:
Chr3:14125194
TMEM43M1VCardiovascular phenotype, Auditory neuropathy, autosomal dominant 3, Arrhythmogenic right ventricular dysplasia 5,
Emery-Dreifuss muscular dystrophy 7, autosomal dominant		Uncertain significance
(Sep 16, 2021)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:14166695
GRCh38:
Chr3:14125195
TMEM43M1KCardiomyopathyUncertain significance
(Mar 5, 2021)		criteria provided, single submitter
24.
GRCh37:
Chr3:14166697
GRCh38:
Chr3:14125197
TMEM43A2PArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 24, 2021)		criteria provided, single submitter
25.
GRCh37:
Chr3:14166699
GRCh38:
Chr3:14125199
TMEM43Cardiomyopathy, Cardiovascular phenotypeLikely benign
(Nov 27, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr3:14166700
GRCh38:
Chr3:14125200
TMEM43A3TArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Oct 10, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr3:14166706
GRCh38:
Chr3:14125206
TMEM43CardiomyopathyUncertain significance
(Mar 6, 2020)		criteria provided, single submitter
28.
GRCh37:
Chr3:14166709
GRCh38:
Chr3:14125209
TMEM43Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Oct 3, 2021)		criteria provided, single submitter
29.
GRCh37:
Chr3:14166721
GRCh38:
Chr3:14125221
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jul 12, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr3:14166739
GRCh38:
Chr3:14125239
TMEM43not providedLikely benign
(Jun 26, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr3:14166835
GRCh38:
Chr3:14125335
TMEM43not providedBenign
(Jun 15, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr3:14166872
GRCh38:
Chr3:14125372
TMEM43not providedBenign
(Jun 15, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr3:14166983-14166984
GRCh38:
Chr3:14125483-14125484
TMEM43not providedBenign
(Nov 14, 2019)		criteria provided, single submitter
34.
GRCh37:
Chr3:14170393
GRCh38:
Chr3:14128893
TMEM43not providedBenign
(Mar 1, 2023)		criteria provided, single submitter
35.
GRCh37:
Chr3:14170395
GRCh38:
Chr3:14128895
TMEM43not providedBenign
(Mar 1, 2023)		criteria provided, single submitter
36.
GRCh37:
Chr3:14170584
GRCh38:
Chr3:14129084
TMEM43not providedLikely benign
(Apr 24, 2019)		criteria provided, single submitter
37.
GRCh37:
Chr3:14170807-14170808
GRCh38:
Chr3:14129307-14129308
TMEM43not providedBenign
(Sep 6, 2019)		criteria provided, single submitter
38.
GRCh37:
Chr3:14170807-14170808
GRCh38:
Chr3:14129307-14129308
TMEM43not providedBenign
(Oct 13, 2019)		criteria provided, single submitter
39.
GRCh37:
Chr3:14170808
GRCh38:
Chr3:14129308
TMEM43not providedBenign
(Aug 6, 2019)		criteria provided, single submitter
40.
GRCh37:
Chr3:14170808-14170809
GRCh38:
Chr3:14129308-14129309
TMEM43not providedBenign
(Aug 15, 2019)		criteria provided, single submitter
41.
GRCh37:
Chr3:14170808-14170811
GRCh38:
Chr3:14129308-14129311
TMEM43not providedLikely benign
(Aug 19, 2019)		criteria provided, single submitter
42.
GRCh37:
Chr3:14170908
GRCh38:
Chr3:14129408
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Apr 5, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr3:14170910
GRCh38:
Chr3:14129410
TMEM43Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jul 15, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr3:14170911
GRCh38:
Chr3:14129411
TMEM43CardiomyopathyUncertain significance
(Feb 11, 2021)		criteria provided, single submitter
45.
GRCh37:
Chr3:14170912
GRCh38:
Chr3:14129412
TMEM43Y5Hnot specified, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
Uncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr3:14170913
GRCh38:
Chr3:14129413
TMEM43Y5CCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 28, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr3:14170916
GRCh38:
Chr3:14129416
TMEM43S6CCardiovascular phenotypeUncertain significance
(Dec 15, 2020)		criteria provided, single submitter
48.
GRCh37:
Chr3:14170918
GRCh38:
Chr3:14129418
TMEM43S7GCardiovascular phenotypeUncertain significance
(Jun 22, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr3:14170920
GRCh38:
Chr3:14129420
TMEM43S7RArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Oct 2, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr3:14170922
GRCh38:
Chr3:14129422
TMEM43T8NCardiomyopathyUncertain significanceno assertion criteria provided
51.
GRCh37:
Chr3:14170924
GRCh38:
Chr3:14129424
TMEM43S9GCardiomyopathyLikely benign
(Apr 1, 2019)		criteria provided, single submitter
52.
GRCh37:
Chr3:14170925
GRCh38:
Chr3:14129425
TMEM43S9NArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jun 13, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr3:14170925
GRCh38:
Chr3:14129425
TMEM43S9TCardiomyopathyUncertain significance
(Jan 19, 2021)		criteria provided, single submitter
54.
GRCh37:
Chr3:14170926
GRCh38:
Chr3:14129426
TMEM43CardiomyopathyLikely benign
(Oct 15, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr3:14170929
GRCh38:
Chr3:14129429
TMEM43Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotypeLikely benign
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr3:14170930
GRCh38:
Chr3:14129430
TMEM43R11GCardiovascular phenotype, not provided, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 5, Emery-Dreifuss muscular dystrophy 7, autosomal dominant, Auditory neuropathy, autosomal dominant 3
Uncertain significance
(Nov 10, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr3:14170930
GRCh38:
Chr3:14129430
TMEM43R11Wnot provided, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype,
Cardiomyopathy		Conflicting interpretations of pathogenicity
(May 25, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr3:14170931
GRCh38:
Chr3:14129431
TMEM43R11QCardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
Uncertain significance
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr3:14170934
GRCh38:
Chr3:14129434
TMEM43R12KCardiomyopathyLikely benign
(Oct 4, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr3:14170938
GRCh38:
Chr3:14129438
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jun 11, 2022)		criteria provided, single submitter
61.
GRCh37:
Chr3:14170939
GRCh38:
Chr3:14129439
TMEM43H14YArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 26, 2022)		criteria provided, single submitter
62.
GRCh37:
Chr3:14170940
GRCh38:
Chr3:14129440
TMEM43H14RCardiovascular phenotypeUncertain significance
(May 6, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr3:14170941
GRCh38:
Chr3:14129441
TMEM43Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Cardiomyopathy
Likely benign
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr3:14170944
GRCh38:
Chr3:14129444
TMEM43Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
Likely benign
(Aug 7, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr3:14170944
GRCh38:
Chr3:14129444
TMEM43Cardiovascular phenotype, not specified, Arrhythmogenic right ventricular dysplasia 5,
Cardiomyopathy		Benign/Likely benign
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr3:14170946
GRCh38:
Chr3:14129446
TMEM43K16RArrhythmogenic right ventricular dysplasia 5, CardiomyopathyConflicting interpretations of pathogenicity
(Feb 2, 2022)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr3:14170946
GRCh38:
Chr3:14129446
TMEM43K16ICardiomyopathy, Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Jan 3, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr3:14170947
GRCh38:
Chr3:14129447
TMEM43K16NCardiomyopathyUncertain significance
(May 15, 2019)		criteria provided, single submitter
69.
GRCh37:
Chr3:14170948
GRCh38:
Chr3:14129448
TMEM43V17IArrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Aug 24, 2021)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr3:14170949
GRCh38:
Chr3:14129449
TMEM43V17ACardiomyopathyUncertain significance
(May 21, 2019)		criteria provided, single submitter
71.
GRCh37:
Chr3:14170950-14170951
GRCh38:
Chr3:14129450-14129451
TMEM43Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
72.
GRCh37:
Chr3:14170950
GRCh38:
Chr3:14129450
TMEM43not specifiedLikely benign
(May 10, 2012)		criteria provided, single submitter
73.
GRCh37:
Chr3:14170952
GRCh38:
Chr3:14129452
TMEM43K18RCardiomyopathy, Arrhythmogenic right ventricular dysplasia 5Uncertain significance
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr3:14170958
GRCh38:
Chr3:14129458
TMEM43S20TArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Sep 23, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr3:14170961
GRCh38:
Chr3:14129461
TMEM43S21FInborn genetic diseases, not providedUncertain significance
(Oct 12, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr3:14170963
GRCh38:
Chr3:14129463
TMEM43Q22*not specifiedUncertain significance
(Jan 20, 2020)		criteria provided, single submitter
77.
GRCh37:
Chr3:14170963-14170964
GRCh38:
Chr3:14129463-14129464
TMEM43P23fsArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Nov 24, 2021)		criteria provided, single submitter
78.
GRCh37:
Chr3:14170968
GRCh38:
Chr3:14129468
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Dec 24, 2021)		criteria provided, single submitter
79.
GRCh37:
Chr3:14170976
GRCh38:
Chr3:14129476
TMEM43L26PArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 14, 2021)		criteria provided, single submitter
80.
GRCh37:
Chr3:14170977
GRCh38:
Chr3:14129477
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Jun 21, 2020)		criteria provided, single submitter
81.
GRCh37:
Chr3:14170981
GRCh38:
Chr3:14129481
TMEM43R28WArrhythmogenic right ventricular cardiomyopathy, not specified, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, not provided,
Auditory neuropathy, autosomal dominant 3, Arrhythmogenic right ventricular dysplasia 5, Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Benign/Likely benign
(Feb 1, 2023)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr3:14170982
GRCh38:
Chr3:14129482
TMEM43R28PArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
83.
GRCh37:
Chr3:14170982
GRCh38:
Chr3:14129482
TMEM43R28QCardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5,
Auditory neuropathy, autosomal dominant 3, Emery-Dreifuss muscular dystrophy 7, autosomal dominant, not specified,
Arrhythmogenic right ventricular dysplasia 5		Uncertain significance
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr3:14170982-14170986
GRCh38:
Chr3:14129482-14129486
TMEM43not providedUncertain significance
(Apr 10, 2014)		criteria provided, single submitter
85.
GRCh37:
Chr3:14170985
GRCh38:
Chr3:14129485
TMEM43L29PCardiomyopathyUncertain significance
(Aug 11, 2019)		criteria provided, single submitter
86.
GRCh37:
Chr3:14170988
GRCh38:
Chr3:14129488
TMEM43S30NCardiovascular phenotype, not provided, Cardiomyopathy,
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr3:14170989
GRCh38:
Chr3:14129489
TMEM43Arrhythmogenic right ventricular dysplasia 5, not provided, Emery-Dreifuss muscular dystrophy 7, autosomal dominant,
Arrhythmogenic right ventricular dysplasia 5, Auditory neuropathy, autosomal dominant 3		Uncertain significance
(Oct 20, 2021)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr3:14170990
GRCh38:
Chr3:14129490
TMEM43E31KCardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5,
Emery-Dreifuss muscular dystrophy 7, autosomal dominant, Auditory neuropathy, autosomal dominant 3, Arrhythmogenic right ventricular dysplasia 5
Uncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr3:14170995
GRCh38:
Chr3:14129495
TMEM43Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5, not specified,
not provided		Likely benign
(Jun 22, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr3:14170997
GRCh38:
Chr3:14129497
TMEM43S33LCardiovascular phenotype, not specified, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 5		Conflicting interpretations of pathogenicity
(Sep 3, 2022)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr3:14170998
GRCh38:
Chr3:14129498
TMEM43Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5Likely benign
(May 19, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr3:14170998
GRCh38:
Chr3:14129498
TMEM43not specified, not provided, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 5		Conflicting interpretations of pathogenicity
(Aug 27, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr3:14170999
GRCh38:
Chr3:14129499
TMEM43G34SArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 26, 2021)		criteria provided, single submitter
94.
GRCh37:
Chr3:14171001
GRCh38:
Chr3:14129501
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(Aug 31, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr3:14171004
GRCh38:
Chr3:14129504
TMEM43Arrhythmogenic right ventricular dysplasia 5Likely benign
(May 5, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr3:14171005
GRCh38:
Chr3:14129505
TMEM43M36VArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Feb 27, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr3:14171006
GRCh38:
Chr3:14129506
TMEM43M36KArrhythmogenic right ventricular dysplasia 5Uncertain significance
(Aug 30, 2021)		criteria provided, single submitter
98.
GRCh37:
Chr3:14171007
GRCh38:
Chr3:14129507
TMEM43M36ICardiomyopathyUncertain significance
(Jul 5, 2019)		criteria provided, single submitter
99.
GRCh37:
Chr3:14171008
GRCh38:
Chr3:14129508
TMEM43F37LCardiomyopathyUncertain significance
(Dec 11, 2018)		criteria provided, single submitter
100.
GRCh37:
Chr3:14171009
GRCh38:
Chr3:14129509
TMEM43F37CArrhythmogenic right ventricular dysplasia 5, CardiomyopathyUncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
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