"Fulgent Genetics, Fulgent Genetics"[submitter] AND "APRT"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 851226	NM_000485.3(APRT):c.482C>T (p.Ser161Leu)	APRT (S161L)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency +1 more	GUncertain significance
Select item 1461446	NM_000485.3(APRT):c.460G>A (p.Val154Met)	APRT (V154M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 797738	NM_000485.3(APRT):c.459C>T (p.Cys153=)	APRT	Single nucleotide variant (synonymous variant +1 more)	Adenine phosphoribosyltransferase deficiency +1 more	GLikely benign
Select item 988065	NM_000485.3(APRT):c.439C>T (p.Gln147Ter)	APRT (Q147*)	Single nucleotide variant (nonsense +1 more)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 1610591	NM_000485.3(APRT):c.400+14C>T	APRT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1153854	NM_000485.3(APRT):c.385C>T (p.Leu129=)	APRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1382571	NM_000485.3(APRT):c.376G>A (p.Val126Met)	APRT (V126M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 884721	NM_000485.3(APRT):c.364A>C (p.Arg122=)	APRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 321163	NM_000485.3(APRT):c.316G>A (p.Gly106Arg)	APRT (G106R)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GUncertain significance
Select item 18298	NM_000485.3(APRT):c.294G>A (p.Trp98Ter)	APRT (W98*)	Single nucleotide variant (nonsense)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988051	NM_000485.3(APRT):c.280_286del (p.Gly94fs)	APRT (G94fs)	Deletion (frameshift variant)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 988049	NM_000485.3(APRT):c.259C>T (p.Arg87Ter)	APRT (R87*)	Single nucleotide variant (nonsense)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 988044	NM_000485.3(APRT):c.188G>A (p.Gly63Asp)	APRT (G63D)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GLikely pathogenic
Select item 1420547	NM_000485.3(APRT):c.175G>A (p.Asp59Asn)	APRT (D59N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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