ACVR2B-AS1[gene] - ClinVar - NCBI

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Items: 16

	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, ACVR2B-AS1 +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