Related gene-specific medical variations for Gene (Select 245812) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2619080	NM_152755.2(CNPY4):c.287G>A (p.Arg96Gln)	CNPY4, TAF6 (R96Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555432	NM_152755.2(CNPY4):c.566T>C (p.Leu189Pro)	CNPY4, TAF6 (L189P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536207	NM_152755.2(CNPY4):c.696C>A (p.Asp232Glu)	CNPY4, TAF6 (D232E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2518179	NM_152755.2(CNPY4):c.187G>A (p.Glu63Lys)	CNPY4, TAF6 (E63K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515842	NM_152755.2(CNPY4):c.317G>A (p.Arg106His)	CNPY4, TAF6 (R106H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470257	NM_152755.2(CNPY4):c.62C>T (p.Ala21Val)	CNPY4, LOC129998899 +1 more (A21V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396017	NM_152755.2(CNPY4):c.166G>A (p.Gly56Ser)	CNPY4, TAF6 (G56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356213	NM_152755.2(CNPY4):c.-52A>G	CNPY4, LOC129998899 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353788	NM_152755.2(CNPY4):c.139G>C (p.Glu47Gln)	TAF6, CNPY4 (E47Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329244	NM_152755.2(CNPY4):c.692G>A (p.Gly231Glu)	CNPY4, TAF6 (G231E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2299473	NM_152755.2(CNPY4):c.241G>C (p.Val81Leu)	TAF6, CNPY4 (V81L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296165	NM_152755.2(CNPY4):c.586T>A (p.Cys196Ser)	CNPY4, TAF6 (C196S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 284982	NM_152755.2(CNPY4):c.-23TTGT[1]	LOC129998899, TAF6 +1 more (T8fs)	Microsatellite (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance