Related gene-specific medical variations for Gene (Select 51339) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344680	NM_001079520.2(DACT1):c.253C>A (p.Arg85Ser)	DACT1, LOC130055736 (R85S)	Single nucleotide variant (missense variant)	DACT1-related disorder	GUncertain significance
Select item 3270805	NM_001079520.2(DACT1):c.79C>T (p.Pro27Ser)	DACT1, LOC130055736 (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079946	NM_001079520.2(DACT1):c.19G>C (p.Gly7Arg)	DACT1, LOC130055736 (G7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079944	NM_001079520.2(DACT1):c.184C>T (p.Arg62Cys)	DACT1, LOC130055736 (R62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631136	NM_001079520.2(DACT1):c.25G>C (p.Ala9Pro)	DACT1, LOC130055736 (A9P)	Single nucleotide variant (missense variant)	DACT1-related disorder	GUncertain significance
Select item 2464243	NM_001079520.2(DACT1):c.253C>G (p.Arg85Gly)	DACT1, LOC130055736 (R85G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408257	NM_001079520.2(DACT1):c.124C>A (p.Gln42Lys)	DACT1, LOC130055736 (Q42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184920	NM_001079520.2(DACT1):c.1362_1363del (p.Ser454fs)	DACT1 (S454fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 815663	GRCh37/hg19 14q23.1(chr14:59083003-59299372)x1	DACT1	Copy number loss	not provided	GUncertain significance
Select item 736131	NM_001079520.2(DACT1):c.147G>A (p.Glu49=)	DACT1, LOC130055736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720493	NM_001079520.2(DACT1):c.237G>C (p.Ala79=)	DACT1, LOC130055736	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717461	NM_001079520.2(DACT1):c.251C>T (p.Pro84Leu)	DACT1, LOC130055736 (P84L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717000	NM_001079520.2(DACT1):c.260G>T (p.Gly87Val)	DACT1, LOC130055736 (G87V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712597	NM_001079520.2(DACT1):c.156G>A (p.Leu52=)	DACT1, LOC130055736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign