ClinVar for MedGen (Select 394528) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977103	NM_030761.5(WNT4):c.739C>T (p.Arg247Cys)	WNT4 (R247C)	Single nucleotide variant (missense variant)	SERKAL syndrome +1 more	GUncertain significance
Select item 772452	NM_030761.5(WNT4):c.909C>T (p.Ile303=)	WNT4	Single nucleotide variant (synonymous variant)	Mullerian aplasia and hyperandrogenism +2 more	GBenign/Likely benign
Select item 767291	NM_030761.5(WNT4):c.96G>A (p.Ser32=)	WNT4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 767252	NM_030761.5(WNT4):c.897G>T (p.Thr299=)	WNT4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 707447	NM_030761.5(WNT4):c.483C>T (p.Tyr161=)	WNT4	Single nucleotide variant (synonymous variant)	SERKAL syndrome +2 more	GBenign
Select item 587509	NM_030761.5(WNT4):c.944T>G (p.Phe315Cys)	WNT4 (F315C)	Single nucleotide variant (missense variant)	Mullerian aplasia and hyperandrogenism +2 more	GUncertain significance
Select item 6309	NM_030761.5(WNT4):c.341C>T (p.Ala114Val)	WNT4 (A114V)	Single nucleotide variant (missense variant)	SERKAL syndrome	GPathogenic

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