"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PRPS1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 422624	NM_002764.4(PRPS1):c.123-16dup	PRPS1	Duplication (intron variant)	Phosphoribosylpyrophosphate synthetase superactivity +5 more	GBenign/Likely benign
Select item 382624	NM_002764.4(PRPS1):c.288G>A (p.Arg96=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Nephrolithiasis/nephrocalcinosis +6 more	GBenign/Likely benign
Select item 1356780	NM_002764.4(PRPS1):c.334G>A (p.Val112Ile)	PRPS1 (V112I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +4 more	GUncertain significance
Select item 21323	NM_002764.4(PRPS1):c.447G>A (p.Pro149=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Phosphoribosylpyrophosphate synthetase superactivity +6 more	GBenign/Likely benign
Select item 94083	NM_002764.4(PRPS1):c.477C>T (p.Ile159=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Arts syndrome +6 more	GBenign/Likely benign
Select item 508528	NM_002764.4(PRPS1):c.573G>A (p.Leu191=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 1057937	NM_002764.4(PRPS1):c.611G>A (p.Arg204His)	PRPS1 (R204H)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X +5 more	GUncertain significance
Select item 1228702	NM_002764.4(PRPS1):c.705-11T>C	PRPS1	Single nucleotide variant (intron variant)	Hearing loss, X-linked 1 +5 more	GBenign/Likely benign