Related gene-specific medical variations for Gene (Select 84167) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266982	NM_006387.6(CHERP):c.2183G>T (p.Gly728Val)	C19orf44, CHERP (G728V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266979	NM_006387.6(CHERP):c.2332C>T (p.Arg778Cys)	C19orf44, CHERP (R778C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144298	NM_006387.6(CHERP):c.2626G>A (p.Val876Ile)	C19orf44, CHERP (V876I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144296	NM_006387.6(CHERP):c.2285G>A (p.Gly762Asp)	C19orf44, CHERP (G762D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144295	NM_006387.6(CHERP):c.2177G>A (p.Arg726Lys)	C19orf44, CHERP (R726K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649511	NM_006387.6(CHERP):c.2289G>A (p.Ser763=)	C19orf44, CHERP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2593327	NM_006387.6(CHERP):c.2492C>T (p.Ala831Val)	C19orf44, CHERP (A831V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402241	NM_006387.6(CHERP):c.2441G>A (p.Arg814Gln)	C19orf44, CHERP (R814Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359260	NM_006387.6(CHERP):c.2378G>A (p.Arg793His)	C19orf44, CHERP (R793H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345757	NM_006387.6(CHERP):c.2362C>T (p.Arg788Cys)	C19orf44, CHERP (R788C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215456	NM_006387.6(CHERP):c.2440C>T (p.Arg814Trp)	C19orf44, CHERP (R814W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance