ClinVar for MedGen (Select 390686) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442019	NM_030761.5(WNT4):c.881G>A (p.Arg294His)	WNT4 (R294H)	Single nucleotide variant (missense variant)	Mullerian aplasia and hyperandrogenism	GUncertain significance
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)	not provided +2 more	GBenign
Select item 587509	NM_030761.5(WNT4):c.944T>G (p.Phe315Cys)	WNT4 (F315C)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +2 more	GUncertain significance
Select item 6311	NM_030761.5(WNT4):c.35T>C (p.Leu12Pro)	WNT4 (L12P)	Single nucleotide variant (missense variant)	Mullerian aplasia and hyperandrogenism	GPathogenic
Select item 6310	NM_030761.5(WNT4):c.247C>T (p.Arg83Trp)	WNT4 (R83W)	Single nucleotide variant (missense variant)	Mullerian aplasia and hyperandrogenism	GPathogenic
Select item 6308	NM_030761.5(WNT4):c.647A>G (p.Glu216Gly)	WNT4 (E216G)	Single nucleotide variant (missense variant)	Mullerian aplasia and hyperandrogenism	GPathogenic