93[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	CTDSPL, DLEC1 +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 901876	NM_001106.4(ACVR2B):c.-21C>T	ACVR2B, ACVR2B-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 579672	NM_001106.4(ACVR2B):c.1A>G (p.Met1Val)	ACVR2B, ACVR2B-AS1 +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1285088	NM_001106.4(ACVR2B):c.6G>C (p.Thr2=)	ACVR2B, ACVR2B-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2190827	NM_001106.4(ACVR2B):c.22C>T (p.Leu8Phe)	ACVR2B-AS1, LOC129936486 +1 more (L8F)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal +1 more	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
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 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 3054394	NM_001106.4(ACVR2B):c.52+9_52+10del	ACVR2B, ACVR2B-AS1 +1 more	Deletion (intron variant)	ACVR2B-related disorder	GLikely benign
Select item 1183589	NM_001106.4(ACVR2B):c.52+200C>T	ACVR2B, ACVR2B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 656834	NC_000003.11:g.(?_38518768)_(38674808_?)dup	LOC110121286, LOC110121287 +6 more	Duplication	Brugada syndrome	GUncertain significance
Select item 2635749	NM_001106.4(ACVR2B):c.61C>T (p.Arg21Cys)	ACVR2B (R21C)	Single nucleotide variant (missense variant)	ACVR2B-related disorder	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 471681	NM_001106.4(ACVR2B):c.99C>T (p.Asn33=)	ACVR2B	Single nucleotide variant (synonymous 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 1565350	NM_001106.4(ACVR2B):c.112C>T (p.Leu38=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 6858	NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)	ACVR2B (R40H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3143123	NM_001106.4(ACVR2B):c.143G>A (p.Arg48His)	ACVR2B (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 646724	NM_001106.4(ACVR2B):c.143G>T (p.Arg48Leu)	ACVR2B (R48L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 344912	NM_001106.4(ACVR2B):c.147C>T (p.Cys49=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal +1 more	GBenign
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 797180	NM_001106.4(ACVR2B):c.177C>T (p.Cys59=)	ACVR2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 344913	NM_001106.4(ACVR2B):c.210C>T (p.Ile70=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
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 2019451	NM_001106.4(ACVR2B):c.260+1G>C	ACVR2B	Single nucleotide variant (splice donor variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 344914	NM_001106.4(ACVR2B):c.260+7C>G	ACVR2B	Single nucleotide variant (intron 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 1998667	NM_001106.4(ACVR2B):c.260+12C>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 344915	NM_001106.4(ACVR2B):c.283G>C (p.Glu95Gln)	ACVR2B (E95Q)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 257468	NM_001106.4(ACVR2B):c.333A>G (p.Glu111=)	ACVR2B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 1573093	NM_001106.4(ACVR2B):c.351A>G (p.Pro117=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 2513360	NM_001106.4(ACVR2B):c.365C>T (p.Pro122Leu)	ACVR2B (P122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 700282	NM_001106.4(ACVR2B):c.366G>A (p.Pro122=)	ACVR2B	Single nucleotide variant (synonymous 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 1643618	NM_001106.4(ACVR2B):c.370+20G>T	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 414875	NM_001106.4(ACVR2B):c.371-9G>C	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
Select item 3049950	NM_001106.4(ACVR2B):c.371-3C>T	ACVR2B	Single nucleotide variant (intron variant)	ACVR2B-related disorder	GLikely benign
Select item 2318870	NM_001106.4(ACVR2B):c.383C>G (p.Pro128Arg)	ACVR2B (P128R)	Single nucleotide variant (missense variant)	not specified	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 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 2740110	NM_001106.4(ACVR2B):c.420C>T (p.Ala140=)	ACVR2B	Single nucleotide variant (synonymous 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 640427	NM_001106.4(ACVR2B):c.481C>T (p.Arg161Trp)	ACVR2B (R161W)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
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 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 2729408	NM_001106.4(ACVR2B):c.507T>C (p.His169=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GLikely benign
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 545542	NM_001106.4(ACVR2B):c.527C>G (p.Pro176Arg)	ACVR2B (P176R)	Single nucleotide variant (missense 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 344916	NM_001106.4(ACVR2B):c.546C>T (p.Ser182=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
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 850088	NM_001106.4(ACVR2B):c.553G>C (p.Val185Leu)	ACVR2B (V185L)	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 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 2760494	NM_001106.4(ACVR2B):c.666+2T>C	ACVR2B	Single nucleotide variant (splice donor variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 238305	NM_001106.4(ACVR2B):c.666+5G>A	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal +2 more	GBenign
Select item 716906	NM_001106.4(ACVR2B):c.666+10T>C	ACVR2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 697228	NM_001106.4(ACVR2B):c.667-9C>T	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal +1 more	GBenign
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 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 1165084	NM_001106.4(ACVR2B):c.771C>T (p.Leu257=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GBenign
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 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 3265008	NM_001106.4(ACVR2B):c.776T>C (p.Val259Ala)	ACVR2B (V259A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244071	NM_001106.4(ACVR2B):c.811-168C>T	ACVR2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252357	NM_001106.4(ACVR2B):c.811-73C>T	ACVR2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257470	NM_001106.4(ACVR2B):c.811-13T>C	ACVR2B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 257469	NM_001106.4(ACVR2B):c.811-12G>A	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal +2 more	GBenign/Likely benign
Select item 3051526	NM_001106.4(ACVR2B):c.811-9T>C	ACVR2B	Single nucleotide variant (intron variant)	ACVR2B-related disorder	GLikely benign
Select item 344917	NM_001106.4(ACVR2B):c.811-3C>T	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 900229	NM_001106.4(ACVR2B):c.849A>G (p.Thr283=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 772265	NM_001106.4(ACVR2B):c.879G>A (p.Thr293=)	ACVR2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 579193	NM_001106.4(ACVR2B):c.926G>A (p.Arg309His)	ACVR2B (R309H)	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 1259960	NM_001106.4(ACVR2B):c.959+108C>T	ACVR2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250985	NM_001106.4(ACVR2B):c.960-72T>C	ACVR2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257471	NM_001106.4(ACVR2B):c.960-19T>C	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal +1 more	GLikely benign
Select item 836787	NM_001106.4(ACVR2B):c.960-3C>T	ACVR2B	Single nucleotide variant (intron 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)	not specified +1 more	GUncertain significance
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 238306	NM_001106.4(ACVR2B):c.993C>T (p.Ser331=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal +2 more	GBenign
Select item 3054719	NM_001106.4(ACVR2B):c.1005C>T (p.Ala335=)	ACVR2B	Single nucleotide variant (synonymous variant)	ACVR2B-related disorder	GLikely benign
Select item 771986	NM_001106.4(ACVR2B):c.1068C>T (p.His356=)	ACVR2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1291657	NM_001106.4(ACVR2B):c.1075-194G>T	ACVR2B	Single nucleotide variant (intron variant)	not provided	GBenign
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 136290	NM_001106.4(ACVR2B):c.1075-5C>T	ACVR2B	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 4, autosomal +2 more	GBenign/Likely benign
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 2653672	NM_001106.4(ACVR2B):c.1101T>C (p.Pro367=)	ACVR2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 695959	NM_001106.4(ACVR2B):c.1140C>T (p.Ala380=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal	GBenign
Select item 545541	NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys)	ACVR2B (R383C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GLikely pathogenic

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