ClinVar for MedGen (Select 346429) - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1286438	NM_004625.4(WNT7A):c.298+37C>A	WNT7A	Single nucleotide variant (intron variant)	Schinzel phocomelia syndrome +2 more	GBenign
Select item 1050186	NM_004625.4(WNT7A):c.470G>A (p.Arg157His)	LOC126806608, WNT7A (R157H)	Single nucleotide variant (missense variant)	Fuhrmann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 8061	NM_004625.4(WNT7A):c.325G>A (p.Ala109Thr)	LOC126806608, WNT7A (A109T)	Single nucleotide variant (missense variant)	Fuhrmann syndrome	GPathogenic

Format

Sort by

Choose Destination

ClinVar