"ACVR2B-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2635749	NM_001106.4(ACVR2B):c.61C>T (p.Arg21Cys)	ACVR2B (R21C)	Single nucleotide variant (missense variant)	ACVR2B-related disorder	GUncertain significance
Select item 344913	NM_001106.4(ACVR2B):c.210C>T (p.Ile70=)	ACVR2B	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 4, autosomal +1 more	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 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 3051526	NM_001106.4(ACVR2B):c.811-9T>C	ACVR2B	Single nucleotide variant (intron variant)	ACVR2B-related disorder	GLikely benign
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 695959	NM_001106.4(ACVR2B):c.1140C>T (p.Ala380=)	ACVR2B	Single nucleotide variant (synonymous variant)	ACVR2B-related disorder +1 more	GBenign/Likely benign
Select item 3034717	NM_001106.4(ACVR2B):c.*9C>T	ACVR2B	Single nucleotide variant (3 prime UTR variant)	ACVR2B-related disorder	GLikely benign

ClinVar