ClinVar for MedGen (Select 462407) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075669	NM_001378183.1(PIEZO2):c.4458_4466del (p.1485VKA[1])	PIEZO2	Deletion (inframe_deletion)	Heterotaxy, visceral, 4, autosomal	GLikely pathogenic
Select item 2996290	NM_001106.4(ACVR2B):c.981A>G (p.Val327=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2979619	NM_001106.4(ACVR2B):c.488G>A (p.Arg163His)	ACVR2B (R163H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2962350	NM_001106.4(ACVR2B):c.1536C>T (p.Ile512=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2908482	NM_001106.4(ACVR2B):c.1213G>A (p.Gly405Arg)	ACVR2B (G405R)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2898940	NM_001106.4(ACVR2B):c.578T>G (p.Leu193Arg)	ACVR2B (L193R)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2897401	NM_001106.4(ACVR2B):c.614G>A (p.Trp205Ter)	ACVR2B (W205*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2896441	NM_001106.4(ACVR2B):c.510G>C (p.Val170=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2884743	NM_001106.4(ACVR2B):c.1451C>T (p.Ser484Leu)	ACVR2B (S484L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2871071	NM_001106.4(ACVR2B):c.1075-19C>T	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2825636	NM_001106.4(ACVR2B):c.1489G>A (p.Val497Met)	ACVR2B (V497M)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2760494	NM_001106.4(ACVR2B):c.666+2T>C	ACVR2B	Single nucleotide variant (splice donor variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2746170	NM_001106.4(ACVR2B):c.1080C>T (p.Gly360=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2740110	NM_001106.4(ACVR2B):c.420C>T (p.Ala140=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2737937	NM_001106.4(ACVR2B):c.1530A>G (p.Ser510=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2729958	NM_001106.4(ACVR2B):c.1252A>C (p.Ile418Leu)	ACVR2B (I418L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2729408	NM_001106.4(ACVR2B):c.507T>C (p.His169=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2721568	NM_001106.4(ACVR2B):c.772G>A (p.Glu258Lys)	ACVR2B (E258K)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2719454	NM_001106.4(ACVR2B):c.1534A>G (p.Ile512Val)	ACVR2B (I512V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2628994	NM_001106.4(ACVR2B):c.738G>C (p.Gln246His)	ACVR2B (Q246H)	Single nucleotide variant (missense variant)	ACVR2B-related disorder +1 more	GUncertain significance
Select item 2438855	NM_001106.4(ACVR2B):c.62G>A (p.Arg21His)	ACVR2B (R21H)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2190827	NM_001106.4(ACVR2B):c.22C>T (p.Leu8Phe)	ACVR2B, ACVR2B-AS1 +1 more (L8F)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal +1 more	GUncertain significance
Select item 2183847	NM_001106.4(ACVR2B):c.930C>T (p.Gly310=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2170414	NM_001106.4(ACVR2B):c.542C>T (p.Pro181Leu)	ACVR2B (P181L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2164559	NM_001106.4(ACVR2B):c.1151T>C (p.Ile384Thr)	ACVR2B (I384T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2151463	NM_001106.4(ACVR2B):c.9G>A (p.Ala3=)	ACVR2B, ACVR2B-AS1 +1 more	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2142192	NM_001106.4(ACVR2B):c.553G>T (p.Val185Leu)	ACVR2B (V185L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2079481	NM_001106.4(ACVR2B):c.652A>T (p.Ile218Phe)	ACVR2B (I218F)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 2066972	NM_001106.4(ACVR2B):c.1186C>G (p.Leu396Val)	ACVR2B (L396V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal +1 more	GUncertain significance
Select item 2062466	NM_001106.4(ACVR2B):c.1287G>A (p.Glu429=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2039273	NM_001106.4(ACVR2B):c.702C>T (p.Phe234=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2019451	NM_001106.4(ACVR2B):c.260+1G>C	ACVR2B	Single nucleotide variant (splice donor variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1998667	NM_001106.4(ACVR2B):c.260+12C>T	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 1983435	NM_001106.4(ACVR2B):c.100G>A (p.Ala34Thr)	ACVR2B (A34T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1643618	NM_001106.4(ACVR2B):c.370+20G>T	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 1622980	NM_001106.4(ACVR2B):c.261-8G>A	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 1612691	NM_001106.4(ACVR2B):c.370+14G>A	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal	GBenign
Select item 1580005	NM_001106.4(ACVR2B):c.243C>T (p.Asp81=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 1573093	NM_001106.4(ACVR2B):c.351A>G (p.Pro117=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 1565350	NM_001106.4(ACVR2B):c.112C>T (p.Leu38=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 1550163	NM_001106.4(ACVR2B):c.52+8C>T	ACVR2B, ACVR2B-AS1 +1 more	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 1507058	NM_001106.4(ACVR2B):c.775G>C (p.Val259Leu)	ACVR2B (V259L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1479613	NM_001106.4(ACVR2B):c.20C>T (p.Ala7Val)	ACVR2B, ACVR2B-AS1 +1 more (A7V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1476215	NM_001106.4(ACVR2B):c.10C>T (p.Pro4Ser)	LOC129936486, ACVR2B +1 more (P4S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1438787	NM_001106.4(ACVR2B):c.406C>T (p.Leu136Phe)	ACVR2B (L136F)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1426139	NM_001106.4(ACVR2B):c.343C>T (p.His115Tyr)	ACVR2B (H115Y)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1406908	NM_001106.4(ACVR2B):c.148G>A (p.Glu50Lys)	ACVR2B (E50K)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1386729	NM_001106.4(ACVR2B):c.1219G>A (p.Val407Met)	ACVR2B (V407M)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1385638	NM_001106.4(ACVR2B):c.979G>A (p.Val327Ile)	ACVR2B (V327I)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal +1 more	GUncertain significance
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	ACAA1, ACVR2B +19 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1165084	NM_001106.4(ACVR2B):c.771C>T (p.Leu257=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GBenign
Select item 1106965	NM_001106.4(ACVR2B):c.1179G>T (p.Leu393=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 1099291	NM_001106.4(ACVR2B):c.260+10G>C	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 1039220	NM_001106.4(ACVR2B):c.1445G>A (p.Arg482Gln)	ACVR2B (R482Q)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal +1 more	GUncertain significance
Select item 1024343	NM_001106.4(ACVR2B):c.1148G>A (p.Arg383His)	ACVR2B (R383H)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1014085	NM_001106.4(ACVR2B):c.1156A>C (p.Met386Leu)	ACVR2B (M386L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 999038	NM_001106.4(ACVR2B):c.925C>T (p.Arg309Cys)	ACVR2B (R309C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 944078	NM_001106.4(ACVR2B):c.410C>T (p.Thr137Met)	ACVR2B (T137M)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 903128	NM_001106.4(ACVR2B):c.*8980T>C	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 903064	NM_001106.4(ACVR2B):c.*7292T>C	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 903063	NM_001106.4(ACVR2B):c.*6847C>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 903013	NM_001106.4(ACVR2B):c.*5022C>G	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 903012	NM_001106.4(ACVR2B):c.*4984T>C	ACVR2B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 902952	NM_001106.4(ACVR2B):c.*3530C>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902951	NM_001106.4(ACVR2B):c.*3401C>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902950	NM_001106.4(ACVR2B):c.*3345A>G	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902905	NM_001106.4(ACVR2B):c.*2002C>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902904	NM_001106.4(ACVR2B):c.*1988C>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902903	NM_001106.4(ACVR2B):c.*1969A>C	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902902	NM_001106.4(ACVR2B):c.*1892G>A	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902901	NM_001106.4(ACVR2B):c.*1831G>A	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 902900	NM_001106.4(ACVR2B):c.*1815G>A	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 902841	NM_001106.4(ACVR2B):c.*630T>C	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902840	NM_001106.4(ACVR2B):c.*488G>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902839	NM_001106.4(ACVR2B):c.*427C>G	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GBenign
Select item 902778	NM_001106.4(ACVR2B):c.482G>A (p.Arg161Gln)	ACVR2B (R161Q)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 902777	NM_001106.4(ACVR2B):c.479A>T (p.Tyr160Phe)	ACVR2B (Y160F)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902255	NM_001106.4(ACVR2B):c.*8714G>C	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902254	NM_001106.4(ACVR2B):c.*8714G>A	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902253	NM_001106.4(ACVR2B):c.*8492G>C	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902252	NM_001106.4(ACVR2B):c.*8427T>G	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902185	NM_001106.4(ACVR2B):c.*6522T>G	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902184	NM_001106.4(ACVR2B):c.*6389A>G	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902183	NM_001106.4(ACVR2B):c.*6372A>G	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902182	NM_001106.4(ACVR2B):c.*6206T>C	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902136	NM_001106.4(ACVR2B):c.*4793A>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902135	NM_001106.4(ACVR2B):c.*4741T>C	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 902134	NM_001106.4(ACVR2B):c.*4726G>A	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902133	NM_001106.4(ACVR2B):c.*4699C>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902072	NM_001106.4(ACVR2B):c.*3180T>C	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902071	NM_001106.4(ACVR2B):c.*3169T>A	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GBenign
Select item 902070	NM_001106.4(ACVR2B):c.*3140C>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902010	NM_001106.4(ACVR2B):c.*1792C>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902009	NM_001106.4(ACVR2B):c.*1785C>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 902008	NM_001106.4(ACVR2B):c.*1633C>G	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 901940	NM_001106.4(ACVR2B):c.*166A>G	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 901939	NM_001106.4(ACVR2B):c.*159T>A	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 901938	NM_001106.4(ACVR2B):c.*147A>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 901878	NM_001106.4(ACVR2B):c.45G>A (p.Leu15=)	ACVR2B, ACVR2B-AS1 +1 more	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 901877	NM_001106.4(ACVR2B):c.24C>A (p.Leu8=)	ACVR2B, ACVR2B-AS1 +1 more	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance

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