Related gene-specific medical variations for Gene (Select 353) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2260513	NM_000485.3(APRT):c.20A>T (p.Gln7Leu)	APRT, LOC130059760 (Q7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212877	NM_000485.3(APRT):c.55T>C (p.Phe19Leu)	APRT, LOC130059760 (F19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1995501	NM_000485.3(APRT):c.16_17inv (p.Leu6Arg)	APRT, LOC130059760 (L6R)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1983115	NM_000485.3(APRT):c.15G>C (p.Glu5Asp)	APRT, LOC130059760 (E5D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716922	NM_000485.3(APRT):c.53A>C (p.Asp18Ala)	APRT, LOC130059760 (D18A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323924	NM_000485.3(APRT):c.13G>T (p.Glu5Ter)	APRT, LOC130059760 (E5*)	Single nucleotide variant (nonsense)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 1237953	NM_000485.3(APRT):c.80+52G>T	APRT, LOC130059760	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 988032	NM_000485.3(APRT):c.58C>T (p.Pro20Ser)	APRT, LOC130059760 (P20S)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 988031	NM_000485.3(APRT):c.23dup (p.Val9fs)	APRT, LOC130059760 (V9fs)	Duplication (frameshift variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988030	NM_000485.3(APRT):c.3G>A (p.Met1Ile)	APRT, LOC130059760 (M1I)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988029	NM_000485.3(APRT):c.2T>C (p.Met1Thr)	APRT, LOC130059760 (M1T)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988028	NM_000485.3(APRT):c.1A>G (p.Met1Val)	APRT, LOC130059760 (M1V)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency +1 more	GPathogenic
Select item 988027	NM_000485.2:c.-1_*1del	APRT	Deletion	Adenine phosphoribosyltransferase deficiency	GPathogenic