| - GRCh37:
- Chr3:94991-41423012
- GRCh38:
- Chr3:53308-41381521
| ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARL8B, ARPC4, ARPC4-TTLL3, ARPP21, ATG7, ATP2B2, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CCR4, CCR8, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, CRTAP, CSRNP1, CTDSPL, CTNNB1, CX3CR1, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EDEM1, EFHB, EGOT, EIF1B, EIF1B-AS1, EMC3, EMC3-AS1, ENTPD3, ENTPD3-AS1, EOMES, EPM2AIP1, EXOG, FANCD2, FANCD2OS, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GHRL, GHRLOS, GLB1, GOLGA4, GOLGA4-AS1, GORASP1, GPD1L, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITGA9, ITGA9-AS1, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365149, LOC111365150, LOC111365223, LOC111429626, LOC111465007, LOC111465009, LOC111501778, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC112935931, LOC112935932, LOC112935933, LOC112935934, LOC112935935, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121009658, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, LOC121725140, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC122889070, LOC122889071, LOC122889072, LOC122889073, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC126806650, LOC126806651, LOC126806652, LOC126806653, LOC126806654, LOC126806655, LOC126806656, LOC126806657, LOC126806658, LOC126806659, LOC401052, LRRC3B, LRRC3B-AS1, LRRFIP2, LRRN1, LSM3, METTL6, MIR12127, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR466, MIR4790, MIR4791, MIR4792, MIR548AY, MIR563, MIR6822, MIR885, MKRN2, MKRN2OS, MLH1, MOBP, MRPS25, MTMR14, MYD88, MYRIP, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, OXTR, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL14, SCN10A, RPL15, RPL32, RPSA, RPUSD3, SATB1, SATB1-AS1, SCN11A, SCN5A, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC25A38, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA6, SNORA62, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, STAC, STT3B, SUMF1, SUSD5, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TRNT1, TSEN2, TTC21A, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, ULK4, VGLL4, VHL, VILL, WDR48, WNT7A, XIRP1, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF619, ZNF620, ZNF621, ZNF860 | | See cases | Pathogenic (Jun 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:11504802-38961034
- 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr3:33769898-40703942
- GRCh38:
- Chr3:33728406-40662451
| ACAA1, ACVR2B, ACVR2B-AS1, APRG1, ARPP21, CCR8, CSRNP1, CTDSPL, CX3CR1, DCLK3, DLEC1, EIF1B, EIF1B-AS1, ENTPD3, ENTPD3-AS1, EPM2AIP1, EXOG, GOLGA4, GOLGA4-AS1, GORASP1, ITGA9, ITGA9-AS1, LINC01811, LINC02033, LOC101928135, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365149, LOC111465007, LOC112935929, LOC112935930, LOC112935933, LOC115995508, LOC115995509, LOC120285841, LOC121009656, LOC121009657, LOC121009658, LOC121725139, LOC121725140, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC122889070, LOC122889071, LOC122889072, LOC126806650, LOC126806651, LOC126806652, LOC126806653, LOC126806654, LRRFIP2, MIR128-2, MIR26A1, MIR6822, MLH1, MOBP, MYD88, MYRIP, OXSR1, PDCD6IP, PDCD6IP-DT, PLCD1, RPL14, RPSA, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, SLC25A38, SNORA6, SNORA62, STAC, TRANK1, TTC21A, VILL, WDR48, XIRP1, XYLB, ZNF619, ZNF620, ZNF621 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr3:37493856-38991863
- GRCh38:
- Chr3:37452365-38950372
| MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, ACAA1, ACVR2B, ACVR2B-AS1, CTDSPL, DLEC1, EXOG, ITGA9, ITGA9-AS1, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111465007, LOC112935929, LOC112935930, LOC120285841, LOC121725139, LOC122889068, LOC122889069, LOC126806651, LOC126806652, MIR26A1, SLC22A14, VILL, XYLB | | Brugada syndrome | Pathogenic (Oct 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38495793
- GRCh38:
- Chr3:38454302
| ACVR2B, ACVR2B-AS1 | | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38495814
- GRCh38:
- Chr3:38454323
| ACVR2B, ACVR2B-AS1 | M1V | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38495819
- GRCh38:
- Chr3:38454328
| ACVR2B, ACVR2B-AS1 | | not provided | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr3:38495822
- GRCh38:
- Chr3:38454331
| ACVR2B-AS1, ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38495823
- GRCh38:
- Chr3:38454332
| ACVR2B-AS1, ACVR2B | P4S | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38495833
- GRCh38:
- Chr3:38454342
| ACVR2B, ACVR2B-AS1 | A7V | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Nov 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38495835
- GRCh38:
- Chr3:38454344
| ACVR2B, ACVR2B-AS1 | L8F | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38495837
- GRCh38:
- Chr3:38454346
| ACVR2B, ACVR2B-AS1 | | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38495858
- GRCh38:
- Chr3:38454367
| ACVR2B, ACVR2B-AS1 | | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38495873
- GRCh38:
- Chr3:38454382
| ACVR2B, ACVR2B-AS1 | | Heterotaxy, visceral, 4, autosomal | Likely benign (May 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38496065
- GRCh38:
- Chr3:38454574
| ACVR2B, ACVR2B-AS1 | | not provided | Benign (Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518768-38674808
- GRCh38:
- Chr3:38477277-38633317
| LOC110121287, EXOG, LOC110121269, LOC110121286, ACVR2B, SCN5A | | Brugada syndrome | Uncertain significance (Aug 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518787
- GRCh38:
- Chr3:38477296
| ACVR2B | R21H | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518824
- GRCh38:
- Chr3:38477333
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Jan 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518825
- GRCh38:
- Chr3:38477334
| ACVR2B | A34T | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518837
- GRCh38:
- Chr3:38477346
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Dec 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518844
- GRCh38:
- Chr3:38477353
| ACVR2B | R40H | not specified, Heterotaxy, visceral, 4, autosomal | Benign/Likely benign (Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38518868
- GRCh38:
- Chr3:38477377
| ACVR2B | R48L | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Nov 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518872
- GRCh38:
- Chr3:38477381
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Benign (Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38518873
- GRCh38:
- Chr3:38477382
| ACVR2B | E50K | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518902
- GRCh38:
- Chr3:38477411
| ACVR2B | | not provided | Likely benign (Jan 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518935
- GRCh38:
- Chr3:38477444
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Aug 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38518968
- GRCh38:
- Chr3:38477477
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518986
- GRCh38:
- Chr3:38477495
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jul 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518992
- GRCh38:
- Chr3:38477501
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518995
- GRCh38:
- Chr3:38477504
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Jan 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38518997
- GRCh38:
- Chr3:38477506
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519344
- GRCh38:
- Chr3:38477853
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519374
- GRCh38:
- Chr3:38477883
| ACVR2B | E95Q | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519424
- GRCh38:
- Chr3:38477933
| ACVR2B | | not specified, not provided, Heterotaxy, visceral, 4, autosomal
| Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38519434
- GRCh38:
- Chr3:38477943
| ACVR2B | H115Y | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519442
- GRCh38:
- Chr3:38477951
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519457
- GRCh38:
- Chr3:38477966
| ACVR2B | | Heterotaxy, visceral, 4, autosomal, not provided | Likely benign (Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519475
- GRCh38:
- Chr3:38477984
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Benign (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519481
- GRCh38:
- Chr3:38477990
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519623
- GRCh38:
- Chr3:38478132
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Jun 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519644
- GRCh38:
- Chr3:38478153
| ACVR2B | P128R | Inborn genetic diseases | Uncertain significance (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519667
- GRCh38:
- Chr3:38478176
| ACVR2B | L136F | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519671
- GRCh38:
- Chr3:38478180
| ACVR2B | T137M | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519740
- GRCh38:
- Chr3:38478249
| ACVR2B | Y160F | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519742
- GRCh38:
- Chr3:38478251
| ACVR2B | R161W | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519743
- GRCh38:
- Chr3:38478252
| ACVR2B | R161Q | Heterotaxy, visceral, 4, autosomal | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519870
- GRCh38:
- Chr3:38478379
| ACVR2B | P176R | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519885
- GRCh38:
- Chr3:38478394
| ACVR2B | P181L | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519889
- GRCh38:
- Chr3:38478398
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519896
- GRCh38:
- Chr3:38478405
| ACVR2B | V185L | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519896
- GRCh38:
- Chr3:38478405
| ACVR2B | V185L | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38519995
- GRCh38:
- Chr3:38478504
| ACVR2B | I218F | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38520014
- GRCh38:
- Chr3:38478523
| ACVR2B | | not specified, not provided, Heterotaxy, visceral, 4, autosomal
| Benign (Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38520019
- GRCh38:
- Chr3:38478528
| ACVR2B | | not provided | Likely benign (Oct 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38520610
- GRCh38:
- Chr3:38479119
| ACVR2B | | not provided, Heterotaxy, visceral, 4, autosomal | Benign (Nov 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38520654
- GRCh38:
- Chr3:38479163
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38520723
- GRCh38:
- Chr3:38479232
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Benign (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38520727
- GRCh38:
- Chr3:38479236
| ACVR2B | V259L | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38521001
- GRCh38:
- Chr3:38479510
| ACVR2B | | not provided | Benign (Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38521096
- GRCh38:
- Chr3:38479605
| ACVR2B | | not provided | Benign (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38521156
- GRCh38:
- Chr3:38479665
| ACVR2B | | not specified, not provided, Heterotaxy, visceral, 4, autosomal
| Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38521157
- GRCh38:
- Chr3:38479666
| ACVR2B | | not specified, Heterotaxy, visceral, 4, autosomal | Benign/Likely benign (Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38521166
- GRCh38:
- Chr3:38479675
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38521207
- GRCh38:
- Chr3:38479716
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38521237
- GRCh38:
- Chr3:38479746
| ACVR2B | | not provided | Likely benign (Sep 29, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38521283
- GRCh38:
- Chr3:38479792
| ACVR2B | R309C | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38521284
- GRCh38:
- Chr3:38479793
| ACVR2B | R309H | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38521288
- GRCh38:
- Chr3:38479797
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38521425
- GRCh38:
- Chr3:38479934
| ACVR2B | | not provided | Benign (Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38522770
- GRCh38:
- Chr3:38481279
| ACVR2B | | not provided | Benign (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38522823
- GRCh38:
- Chr3:38481332
| ACVR2B | | Heterotaxy, visceral, 4, autosomal, not specified | Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38522839
- GRCh38:
- Chr3:38481348
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38522861
- GRCh38:
- Chr3:38481370
| ACVR2B | V327I | Inborn genetic diseases, Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38522875
- GRCh38:
- Chr3:38481384
| ACVR2B | | not specified, not provided, Heterotaxy, visceral, 4, autosomal
| Benign (Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38522950
- GRCh38:
- Chr3:38481459
| ACVR2B | | not provided | Likely benign (Nov 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38523495
- GRCh38:
- Chr3:38482004
| ACVR2B | | not provided | Benign (Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38523684
- GRCh38:
- Chr3:38482193
| ACVR2B | | not specified, Heterotaxy, visceral, 4, autosomal | Benign/Likely benign (Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38523754
- GRCh38:
- Chr3:38482263
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Benign (Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38523761
- GRCh38:
- Chr3:38482270
| ACVR2B | R383C | Heterotaxy, visceral, 4, autosomal | Likely pathogenic (Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38523762
- GRCh38:
- Chr3:38482271
| ACVR2B | R383H | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Mar 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38523765
- GRCh38:
- Chr3:38482274
| ACVR2B | I384T | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38523770
- GRCh38:
- Chr3:38482279
| ACVR2B | M386L | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38523793
- GRCh38:
- Chr3:38482302
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Jul 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38523800
- GRCh38:
- Chr3:38482309
| ACVR2B | L396V | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38523809
- GRCh38:
- Chr3:38482318
| ACVR2B | R399G | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38523823
- GRCh38:
- Chr3:38482332
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Jan 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38523841
- GRCh38:
- Chr3:38482350
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38523926
- GRCh38:
- Chr3:38482435
| ACVR2B | V407M | Heterotaxy, visceral, 4, autosomal | Uncertain significance (Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38523976
- GRCh38:
- Chr3:38482485
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Conflicting interpretations of pathogenicity (Feb 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38523994
- GRCh38:
- Chr3:38482503
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Likely benign (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38524058
- GRCh38:
- Chr3:38482567
| ACVR2B | | not specified, Heterotaxy, visceral, 4, autosomal | Benign (Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38524086
- GRCh38:
- Chr3:38482595
| ACVR2B | | not provided | Benign (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38524194
- GRCh38:
- Chr3:38482703
| ACVR2B | | not provided | Benign (Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38524311
- GRCh38:
- Chr3:38482820
| ACVR2B | | not provided | Benign (Nov 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38524328
- GRCh38:
- Chr3:38482837
| ACVR2B | | not provided | Benign (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38524338
- GRCh38:
- Chr3:38482847
| ACVR2B | | not provided | Benign (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38524363
- GRCh38:
- Chr3:38482872
| ACVR2B | | not provided | Benign (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38524694
- GRCh38:
- Chr3:38483203
| ACVR2B | | Heterotaxy, visceral, 4, autosomal | Benign/Likely benign (Mar 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38524728
- GRCh38:
- Chr3:38483237
| ACVR2B | R482W | Heterotaxy, visceral, 4, autosomal | Benign/Likely benign (Dec 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38524729
- GRCh38:
- Chr3:38483238
| ACVR2B | R482Q | Heterotaxy, visceral, 4, autosomal, Inborn genetic diseases | Uncertain significance (Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |