Related gene-specific medical variations for Gene (Select 220001) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2618670	NM_152718.2(VWCE):c.1943C>T (p.Pro648Leu)	LOC126861223, VWCE (P648L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370337	NM_152718.2(VWCE):c.1928C>T (p.Pro643Leu)	LOC126861223, VWCE (P643L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599545	NM_152718.2(VWCE):c.1633C>T (p.Arg545Ter)	VWCE (R545*)	Single nucleotide variant (nonsense)	Short stature	GPathogenic

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