"Ambry Genetics"[submitter] AND "PRPSAP1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2407972	NM_002766.3(PRPSAP1):c.1136G>A (p.Arg379Gln)	PRPSAP1 (R379Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370711	NM_002766.3(PRPSAP1):c.992T>C (p.Val331Ala)	PRPSAP1 (V228A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370710	NM_002766.3(PRPSAP1):c.991G>T (p.Val331Leu)	PRPSAP1 (V228L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478286	NM_002766.3(PRPSAP1):c.861T>G (p.Ile287Met)	PRPSAP1 (I184M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475127	NM_002766.3(PRPSAP1):c.724C>T (p.Arg242Cys)	PRPSAP1 (R139C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299897	NM_002766.3(PRPSAP1):c.701C>T (p.Thr234Met)	PRPSAP1 (T131M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287455	NM_002766.3(PRPSAP1):c.668G>A (p.Gly223Asp)	PRPSAP1 (G223D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551134	NM_002766.3(PRPSAP1):c.616T>C (p.Ser206Pro)	PRPSAP1 (S206P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296227	NM_002766.3(PRPSAP1):c.610G>C (p.Ala204Pro)	PRPSAP1 (A101P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509500	NM_002766.3(PRPSAP1):c.523T>C (p.Phe175Leu)	PRPSAP1 (F175L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545686	NM_002766.3(PRPSAP1):c.454G>A (p.Ala152Thr)	PRPSAP1 (A49T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558536	NM_002766.3(PRPSAP1):c.167C>A (p.Thr56Lys)	LOC130061724, PRPSAP1 (T56K)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2315881	NM_002766.3(PRPSAP1):c.80C>G (p.Pro27Arg)	LOC130061724, PRPSAP1 (P27R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2278627	NM_002766.3(PRPSAP1):c.70C>G (p.Pro24Ala)	LOC130061724, PRPSAP1 (P24A)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2350098	NM_002766.3(PRPSAP1):c.7A>G (p.Lys3Glu)	LOC130061724, PRPSAP1 (K3E)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance