ACVR2B[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1534151.	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 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
Select item 579782.	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 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
Select item 1455863.	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3 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
Select item 6650524.	NC_000003.12:g.(?_37452365)_(38950372_?)del 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
Select item 9018765.	NM_001106.4(ACVR2B):c.-21C>T GRCh37: Chr3:38495793 GRCh38: Chr3:38454302	ACVR2B, ACVR2B-AS1		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 5796726.	NM_001106.4(ACVR2B):c.1A>G (p.Met1Val) GRCh37: Chr3:38495814 GRCh38: Chr3:38454323	ACVR2B, ACVR2B-AS1	M1V	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 12850887.	NM_001106.4(ACVR2B):c.6G>C (p.Thr2=) GRCh37: Chr3:38495819 GRCh38: Chr3:38454328	ACVR2B, ACVR2B-AS1		not provided	Likely benign	no assertion criteria provided
Select item 21514638.	NM_001106.4(ACVR2B):c.9G>A (p.Ala3_Pro4=) GRCh37: Chr3:38495822 GRCh38: Chr3:38454331	ACVR2B-AS1, ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 14762159.	NM_001106.4(ACVR2B):c.10C>T (p.Pro4Ser) GRCh37: Chr3:38495823 GRCh38: Chr3:38454332	ACVR2B-AS1, ACVR2B	P4S	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 147961310.	NM_001106.4(ACVR2B):c.20C>T (p.Ala7Val) GRCh37: Chr3:38495833 GRCh38: Chr3:38454342	ACVR2B, ACVR2B-AS1	A7V	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 219082711.	NM_001106.4(ACVR2B):c.22C>T (p.Leu8Phe) GRCh37: Chr3:38495835 GRCh38: Chr3:38454344	ACVR2B, ACVR2B-AS1	L8F	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 90187712.	NM_001106.4(ACVR2B):c.24C>A (p.Leu8=) GRCh37: Chr3:38495837 GRCh38: Chr3:38454346	ACVR2B, ACVR2B-AS1		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90187813.	NM_001106.4(ACVR2B):c.45G>A (p.Leu15=) GRCh37: Chr3:38495858 GRCh38: Chr3:38454367	ACVR2B, ACVR2B-AS1		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 155016314.	NM_001106.4(ACVR2B):c.52+8C>T GRCh37: Chr3:38495873 GRCh38: Chr3:38454382	ACVR2B, ACVR2B-AS1		Heterotaxy, visceral, 4, autosomal	Likely benign (May 3, 2021)	criteria provided, single submitter
Select item 118358915.	NM_001106.4(ACVR2B):c.52+200C>T GRCh37: Chr3:38496065 GRCh38: Chr3:38454574	ACVR2B, ACVR2B-AS1		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 65683416.	NC_000003.11:g.(?_38518768)_(38674808_?)dup 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
Select item 243885517.	NM_001106.4(ACVR2B):c.62G>A (p.Arg21His) GRCh37: Chr3:38518787 GRCh38: Chr3:38477296	ACVR2B	R21H	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Aug 10, 2021)	criteria provided, single submitter
Select item 47168118.	NM_001106.4(ACVR2B):c.99C>T (p.Asn33=) GRCh37: Chr3:38518824 GRCh38: Chr3:38477333	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Jan 22, 2020)	criteria provided, single submitter
Select item 198343519.	NM_001106.4(ACVR2B):c.100G>A (p.Ala34Thr) GRCh37: Chr3:38518825 GRCh38: Chr3:38477334	ACVR2B	A34T	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 156535020.	NM_001106.4(ACVR2B):c.112C>T (p.Leu38=) GRCh37: Chr3:38518837 GRCh38: Chr3:38477346	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Dec 24, 2020)	criteria provided, single submitter
Select item 685821.	NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) 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
Select item 64672422.	NM_001106.4(ACVR2B):c.143G>T (p.Arg48Leu) GRCh37: Chr3:38518868 GRCh38: Chr3:38477377	ACVR2B	R48L	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Nov 7, 2018)	criteria provided, single submitter
Select item 34491223.	NM_001106.4(ACVR2B):c.147C>T (p.Cys49=) GRCh37: Chr3:38518872 GRCh38: Chr3:38477381	ACVR2B		Heterotaxy, visceral, 4, autosomal	Benign (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140690824.	NM_001106.4(ACVR2B):c.148G>A (p.Glu50Lys) GRCh37: Chr3:38518873 GRCh38: Chr3:38477382	ACVR2B	E50K	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 79718025.	NM_001106.4(ACVR2B):c.177C>T (p.Cys59=) GRCh37: Chr3:38518902 GRCh38: Chr3:38477411	ACVR2B		not provided	Likely benign (Jan 2, 2019)	criteria provided, single submitter
Select item 34491326.	NM_001106.4(ACVR2B):c.210C>T (p.Ile70=) GRCh37: Chr3:38518935 GRCh38: Chr3:38477444	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158000527.	NM_001106.4(ACVR2B):c.243C>T (p.Asp81=) GRCh37: Chr3:38518968 GRCh38: Chr3:38477477	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 201945128.	NM_001106.4(ACVR2B):c.260+1G>C GRCh37: Chr3:38518986 GRCh38: Chr3:38477495	ACVR2B		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 34491429.	NM_001106.4(ACVR2B):c.260+7C>G GRCh37: Chr3:38518992 GRCh38: Chr3:38477501	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 109929130.	NM_001106.4(ACVR2B):c.260+10G>C GRCh37: Chr3:38518995 GRCh38: Chr3:38477504	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Jan 29, 2019)	criteria provided, single submitter
Select item 199866731.	NM_001106.4(ACVR2B):c.260+12C>T GRCh37: Chr3:38518997 GRCh38: Chr3:38477506	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 162298032.	NM_001106.4(ACVR2B):c.261-8G>A GRCh37: Chr3:38519344 GRCh38: Chr3:38477853	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Aug 13, 2021)	criteria provided, single submitter
Select item 34491533.	NM_001106.4(ACVR2B):c.283G>C (p.Glu95Gln) GRCh37: Chr3:38519374 GRCh38: Chr3:38477883	ACVR2B	E95Q	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 25746834.	NM_001106.4(ACVR2B):c.333A>G (p.Glu111=) 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
Select item 142613935.	NM_001106.4(ACVR2B):c.343C>T (p.His115Tyr) GRCh37: Chr3:38519434 GRCh38: Chr3:38477943	ACVR2B	H115Y	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 157309336.	NM_001106.4(ACVR2B):c.351A>G (p.Pro117=) GRCh37: Chr3:38519442 GRCh38: Chr3:38477951	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 70028237.	NM_001106.4(ACVR2B):c.366G>A (p.Pro122=) GRCh37: Chr3:38519457 GRCh38: Chr3:38477966	ACVR2B		Heterotaxy, visceral, 4, autosomal, not provided	Likely benign (Nov 2, 2021)	criteria provided, single submitter
Select item 161269138.	NM_001106.4(ACVR2B):c.370+14G>A GRCh37: Chr3:38519475 GRCh38: Chr3:38477984	ACVR2B		Heterotaxy, visceral, 4, autosomal	Benign (Aug 20, 2021)	criteria provided, single submitter
Select item 164361839.	NM_001106.4(ACVR2B):c.370+20G>T GRCh37: Chr3:38519481 GRCh38: Chr3:38477990	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 41487540.	NM_001106.4(ACVR2B):c.371-9G>C GRCh37: Chr3:38519623 GRCh38: Chr3:38478132	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Jun 12, 2018)	criteria provided, single submitter
Select item 231887041.	NM_001106.4(ACVR2B):c.383C>G (p.Pro128Arg) GRCh37: Chr3:38519644 GRCh38: Chr3:38478153	ACVR2B	P128R	Inborn genetic diseases	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 143878742.	NM_001106.4(ACVR2B):c.406C>T (p.Leu136Phe) GRCh37: Chr3:38519667 GRCh38: Chr3:38478176	ACVR2B	L136F	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 94407843.	NM_001106.4(ACVR2B):c.410C>T (p.Thr137Met) GRCh37: Chr3:38519671 GRCh38: Chr3:38478180	ACVR2B	T137M	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 90277744.	NM_001106.4(ACVR2B):c.479A>T (p.Tyr160Phe) GRCh37: Chr3:38519740 GRCh38: Chr3:38478249	ACVR2B	Y160F	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 64042745.	NM_001106.4(ACVR2B):c.481C>T (p.Arg161Trp) GRCh37: Chr3:38519742 GRCh38: Chr3:38478251	ACVR2B	R161W	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 90277846.	NM_001106.4(ACVR2B):c.482G>A (p.Arg161Gln) GRCh37: Chr3:38519743 GRCh38: Chr3:38478252	ACVR2B	R161Q	Heterotaxy, visceral, 4, autosomal	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 54554247.	NM_001106.4(ACVR2B):c.527C>G (p.Pro176Arg) GRCh37: Chr3:38519870 GRCh38: Chr3:38478379	ACVR2B	P176R	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 217041448.	NM_001106.4(ACVR2B):c.542C>T (p.Pro181Leu) GRCh37: Chr3:38519885 GRCh38: Chr3:38478394	ACVR2B	P181L	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 34491649.	NM_001106.4(ACVR2B):c.546C>T (p.Ser182=) GRCh37: Chr3:38519889 GRCh38: Chr3:38478398	ACVR2B		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 214219250.	NM_001106.4(ACVR2B):c.553G>T (p.Val185Leu) GRCh37: Chr3:38519896 GRCh38: Chr3:38478405	ACVR2B	V185L	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 85008851.	NM_001106.4(ACVR2B):c.553G>C (p.Val185Leu) GRCh37: Chr3:38519896 GRCh38: Chr3:38478405	ACVR2B	V185L	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 207948152.	NM_001106.4(ACVR2B):c.652A>T (p.Ile218Phe) GRCh37: Chr3:38519995 GRCh38: Chr3:38478504	ACVR2B	I218F	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 23830553.	NM_001106.4(ACVR2B):c.666+5G>A 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
Select item 71690654.	NM_001106.4(ACVR2B):c.666+10T>C GRCh37: Chr3:38520019 GRCh38: Chr3:38478528	ACVR2B		not provided	Likely benign (Oct 16, 2017)	criteria provided, single submitter
Select item 69722855.	NM_001106.4(ACVR2B):c.667-9C>T GRCh37: Chr3:38520610 GRCh38: Chr3:38479119	ACVR2B		not provided, Heterotaxy, visceral, 4, autosomal	Benign (Nov 17, 2020)	criteria provided, single submitter
Select item 203927356.	NM_001106.4(ACVR2B):c.702C>T (p.Phe234_Ser235=) GRCh37: Chr3:38520654 GRCh38: Chr3:38479163	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 116508457.	NM_001106.4(ACVR2B):c.771C>T (p.Leu257=) GRCh37: Chr3:38520723 GRCh38: Chr3:38479232	ACVR2B		Heterotaxy, visceral, 4, autosomal	Benign (Jul 12, 2022)	criteria provided, single submitter
Select item 150705858.	NM_001106.4(ACVR2B):c.775G>C (p.Val259Leu) GRCh37: Chr3:38520727 GRCh38: Chr3:38479236	ACVR2B	V259L	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124407159.	NM_001106.4(ACVR2B):c.811-168C>T GRCh37: Chr3:38521001 GRCh38: Chr3:38479510	ACVR2B		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 125235760.	NM_001106.4(ACVR2B):c.811-73C>T GRCh37: Chr3:38521096 GRCh38: Chr3:38479605	ACVR2B		not provided	Benign (Jun 18, 2021)	criteria provided, single submitter
Select item 25747061.	NM_001106.4(ACVR2B):c.811-13T>C 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
Select item 25746962.	NM_001106.4(ACVR2B):c.811-12G>A 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
Select item 34491763.	NM_001106.4(ACVR2B):c.811-3C>T GRCh37: Chr3:38521166 GRCh38: Chr3:38479675	ACVR2B		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90022964.	NM_001106.4(ACVR2B):c.849A>G (p.Thr283=) GRCh37: Chr3:38521207 GRCh38: Chr3:38479716	ACVR2B		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 77226565.	NM_001106.4(ACVR2B):c.879G>A (p.Thr293=) GRCh37: Chr3:38521237 GRCh38: Chr3:38479746	ACVR2B		not provided	Likely benign (Sep 29, 2017)	criteria provided, single submitter
Select item 99903866.	NM_001106.4(ACVR2B):c.925C>T (p.Arg309Cys) GRCh37: Chr3:38521283 GRCh38: Chr3:38479792	ACVR2B	R309C	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 57919367.	NM_001106.4(ACVR2B):c.926G>A (p.Arg309His) GRCh37: Chr3:38521284 GRCh38: Chr3:38479793	ACVR2B	R309H	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 218384768.	NM_001106.4(ACVR2B):c.930C>T (p.Gly310_Glu311=) GRCh37: Chr3:38521288 GRCh38: Chr3:38479797	ACVR2B		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 125996069.	NM_001106.4(ACVR2B):c.959+108C>T GRCh37: Chr3:38521425 GRCh38: Chr3:38479934	ACVR2B		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 125098570.	NM_001106.4(ACVR2B):c.960-72T>C GRCh37: Chr3:38522770 GRCh38: Chr3:38481279	ACVR2B		not provided	Benign (Jun 18, 2021)	criteria provided, single submitter
Select item 25747171.	NM_001106.4(ACVR2B):c.960-19T>C GRCh37: Chr3:38522823 GRCh38: Chr3:38481332	ACVR2B		Heterotaxy, visceral, 4, autosomal, not specified	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83678772.	NM_001106.4(ACVR2B):c.960-3C>T GRCh37: Chr3:38522839 GRCh38: Chr3:38481348	ACVR2B		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 138563873.	NM_001106.4(ACVR2B):c.979G>A (p.Val327Ile) 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
Select item 23830674.	NM_001106.4(ACVR2B):c.993C>T (p.Ser331=) 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
Select item 77198675.	NM_001106.4(ACVR2B):c.1068C>T (p.His356=) GRCh37: Chr3:38522950 GRCh38: Chr3:38481459	ACVR2B		not provided	Likely benign (Nov 6, 2018)	criteria provided, single submitter
Select item 129165776.	NM_001106.4(ACVR2B):c.1075-194G>T GRCh37: Chr3:38523495 GRCh38: Chr3:38482004	ACVR2B		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 13629077.	NM_001106.4(ACVR2B):c.1075-5C>T 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
Select item 69595978.	NM_001106.4(ACVR2B):c.1140C>T (p.Ala380=) GRCh37: Chr3:38523754 GRCh38: Chr3:38482263	ACVR2B		Heterotaxy, visceral, 4, autosomal	Benign (Mar 21, 2022)	criteria provided, single submitter
Select item 54554179.	NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) GRCh37: Chr3:38523761 GRCh38: Chr3:38482270	ACVR2B	R383C	Heterotaxy, visceral, 4, autosomal	Likely pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102434380.	NM_001106.4(ACVR2B):c.1148G>A (p.Arg383His) GRCh37: Chr3:38523762 GRCh38: Chr3:38482271	ACVR2B	R383H	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Mar 18, 2020)	criteria provided, single submitter
Select item 216455981.	NM_001106.4(ACVR2B):c.1151T>C (p.Ile384Thr) GRCh37: Chr3:38523765 GRCh38: Chr3:38482274	ACVR2B	I384T	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 101408582.	NM_001106.4(ACVR2B):c.1156A>C (p.Met386Leu) GRCh37: Chr3:38523770 GRCh38: Chr3:38482279	ACVR2B	M386L	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 110696583.	NM_001106.4(ACVR2B):c.1179G>T (p.Leu393=) GRCh37: Chr3:38523793 GRCh38: Chr3:38482302	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Jul 30, 2020)	criteria provided, single submitter
Select item 206697284.	NM_001106.4(ACVR2B):c.1186C>G (p.Leu396Val) GRCh37: Chr3:38523800 GRCh38: Chr3:38482309	ACVR2B	L396V	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 65879185.	NM_001106.4(ACVR2B):c.1195C>G (p.Arg399Gly) GRCh37: Chr3:38523809 GRCh38: Chr3:38482318	ACVR2B	R399G	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 76585386.	NM_001106.4(ACVR2B):c.1209A>G (p.Ala403=) GRCh37: Chr3:38523823 GRCh38: Chr3:38482332	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Jan 17, 2019)	criteria provided, single submitter
Select item 90023087.	NM_001106.4(ACVR2B):c.1213+14C>T GRCh37: Chr3:38523841 GRCh38: Chr3:38482350	ACVR2B		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 138672988.	NM_001106.4(ACVR2B):c.1219G>A (p.Val407Met) GRCh37: Chr3:38523926 GRCh38: Chr3:38482435	ACVR2B	V407M	Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 41487689.	NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=) GRCh37: Chr3:38523976 GRCh38: Chr3:38482485	ACVR2B		Heterotaxy, visceral, 4, autosomal	Conflicting interpretations of pathogenicity (Feb 2, 2022)	criteria provided, conflicting interpretations
Select item 206246690.	NM_001106.4(ACVR2B):c.1287G>A (p.Glu429_Val430=) GRCh37: Chr3:38523994 GRCh38: Chr3:38482503	ACVR2B		Heterotaxy, visceral, 4, autosomal	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 13629191.	NM_001106.4(ACVR2B):c.1344+7G>T GRCh37: Chr3:38524058 GRCh38: Chr3:38482567	ACVR2B		not specified, Heterotaxy, visceral, 4, autosomal	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127628092.	NM_001106.4(ACVR2B):c.1344+35G>A GRCh37: Chr3:38524086 GRCh38: Chr3:38482595	ACVR2B		not provided	Benign (Jun 18, 2021)	criteria provided, single submitter
Select item 123898493.	NM_001106.4(ACVR2B):c.1344+143G>C GRCh37: Chr3:38524194 GRCh38: Chr3:38482703	ACVR2B		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 124964794.	NM_001106.4(ACVR2B):c.1344+260A>G GRCh37: Chr3:38524311 GRCh38: Chr3:38482820	ACVR2B		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 122580195.	NM_001106.4(ACVR2B):c.1344+277G>C GRCh37: Chr3:38524328 GRCh38: Chr3:38482837	ACVR2B		not provided	Benign (Jun 18, 2021)	criteria provided, single submitter
Select item 129505596.	NM_001106.4(ACVR2B):c.1344+287C>G GRCh37: Chr3:38524338 GRCh38: Chr3:38482847	ACVR2B		not provided	Benign (Jun 18, 2021)	criteria provided, single submitter
Select item 127602197.	NM_001106.4(ACVR2B):c.1345-266C>T GRCh37: Chr3:38524363 GRCh38: Chr3:38482872	ACVR2B		not provided	Benign (Jun 18, 2021)	criteria provided, single submitter
Select item 90023198.	NM_001106.4(ACVR2B):c.1410C>T (p.Ser470=) GRCh37: Chr3:38524694 GRCh38: Chr3:38483203	ACVR2B		Heterotaxy, visceral, 4, autosomal	Benign/Likely benign (Mar 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34491899.	NM_001106.4(ACVR2B):c.1444C>T (p.Arg482Trp) GRCh37: Chr3:38524728 GRCh38: Chr3:38483237	ACVR2B	R482W	Heterotaxy, visceral, 4, autosomal	Benign/Likely benign (Dec 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1039220100.	NM_001106.4(ACVR2B):c.1445G>A (p.Arg482Gln) 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

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