ClinVar for MedGen (Select 445380) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344532	NM_017780.4(CHD7):c.4388T>C (p.Leu1463Pro)	CHD7 (L1463P)	Single nucleotide variant (missense variant +1 more)	Pure gonadal dysgenesis 46,XY	GUncertain significance
Select item 988653	NM_021951.3(DMRT1):c.967G>A (p.Val323Ile)	DMRT1 (V165I +1 more)	Single nucleotide variant (missense variant)	Pure gonadal dysgenesis 46,XY	GUncertain significance
Select item 988321	NM_000044.6(AR):c.1462C>T (p.Gln488Ter)	AR (Q488*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

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