ClinVar for MedGen (Select 163205) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441795	NM_002764.4(PRPS1):c.179G>A (p.Cys60Tyr)	PRPS1 (C60Y)	Single nucleotide variant (missense variant +1 more)	Arts syndrome	GUncertain significance
Select item 1806212	NM_002764.4(PRPS1):c.733T>C (p.Tyr245His)	PRPS1 (Y245H +1 more)	Single nucleotide variant (missense variant)	Arts syndrome	GUncertain significance
Select item 1700710	NM_002764.4(PRPS1):c.367C>G (p.His123Asp)	PRPS1 (H123D)	Single nucleotide variant (missense variant +1 more)	Arts syndrome	Gnot provided
Select item 1685417	NM_002764.4(PRPS1):c.127G>A (p.Glu43Lys)	PRPS1 (E43K)	Single nucleotide variant (missense variant +1 more)	Arts syndrome	GLikely pathogenic
Select item 1477376	NM_002764.4(PRPS1):c.383A>T (p.Asp128Val)	PRPS1 (D128V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 1320158	NM_002764.4(PRPS1):c.641G>A (p.Arg214Gln)	PRPS1 (R10Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 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
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 1032085	NM_002764.4(PRPS1):c.842T>G (p.Met281Arg)	PRPS1 (M77R +1 more)	Single nucleotide variant (missense variant)	Arts syndrome	GUncertain significance
Select item 915184	NM_002764.4(PRPS1):c.*137C>T	PRPS1	Single nucleotide variant (3 prime UTR variant)	Arts syndrome +2 more	GUncertain significance
Select item 913985	NM_002764.4(PRPS1):c.*508G>C	PRPS1	Single nucleotide variant (3 prime UTR variant)	Arts syndrome +2 more	GUncertain significance
Select item 913984	NM_002764.4(PRPS1):c.*423T>A	PRPS1	Single nucleotide variant (3 prime UTR variant)	Hearing loss, X-linked 1 +2 more	GUncertain significance
Select item 913628	NM_002764.4(PRPS1):c.*726C>T	PRPS1	Single nucleotide variant (3 prime UTR variant)	Hearing loss, X-linked 1 +2 more	GUncertain significance
Select item 913589	NM_002764.4(PRPS1):c.*389G>A	PRPS1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GUncertain significance
Select item 912518	NM_002764.4(PRPS1):c.*608C>T	PRPS1	Single nucleotide variant (3 prime UTR variant)	Hearing loss, X-linked 1 +2 more	GUncertain significance
Select item 912517	NM_002764.4(PRPS1):c.*539G>T	PRPS1	Single nucleotide variant (3 prime UTR variant)	Phosphoribosylpyrophosphate synthetase superactivity +2 more	GUncertain significance
Select item 912516	NM_002764.4(PRPS1):c.*539G>C	PRPS1	Single nucleotide variant (3 prime UTR variant)	Phosphoribosylpyrophosphate synthetase superactivity +2 more	GUncertain significance
Select item 912472	NM_002764.4(PRPS1):c.*158C>T	PRPS1	Single nucleotide variant (3 prime UTR variant)	Phosphoribosylpyrophosphate synthetase superactivity +2 more	GBenign
Select item 800505	NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu)	PRPS1 (P141L)	Single nucleotide variant (missense variant +1 more)	Arts syndrome	GUncertain significance
Select item 701064	NM_002764.4(PRPS1):c.720C>T (p.Gly240=)	PRPS1	Single nucleotide variant (synonymous variant)	Phosphoribosylpyrophosphate synthetase superactivity +3 more	GBenign/Likely benign
Select item 520913	NM_002764.4(PRPS1):c.307-2A>G	PRPS1	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases	GPathogenic
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 446163	NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp)	PRPS1 (R214W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic
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 367712	NM_002764.4(PRPS1):c.*938dup	PRPS1	Duplication (3 prime UTR variant)	Phosphoribosylpyrophosphate synthetase superactivity +3 more	GUncertain significance
Select item 367711	NM_002764.4(PRPS1):c.*762G>T	PRPS1	Single nucleotide variant (3 prime UTR variant)	Arts syndrome +2 more	GUncertain significance
Select item 367710	NM_002764.4(PRPS1):c.*725T>C	PRPS1	Single nucleotide variant (3 prime UTR variant)	Hearing loss, X-linked 1 +2 more	GBenign
Select item 367709	NM_002764.4(PRPS1):c.*538G>T	PRPS1	Single nucleotide variant (3 prime UTR variant)	Hearing loss, X-linked 1 +2 more	GUncertain significance
Select item 367708	NM_002764.4(PRPS1):c.*538G>C	PRPS1	Single nucleotide variant (3 prime UTR variant)	Phosphoribosylpyrophosphate synthetase superactivity +2 more	GUncertain significance
Select item 367707	NM_002764.4(PRPS1):c.*389G>C	PRPS1	Single nucleotide variant (3 prime UTR variant)	Hearing loss, X-linked 1 +2 more	GUncertain significance
Select item 367706	NM_002764.4(PRPS1):c.*178G>A	PRPS1	Single nucleotide variant (3 prime UTR variant)	Hearing loss, X-linked 1 +2 more	GBenign
Select item 367705	NM_002764.4(PRPS1):c.*166G>A	PRPS1	Single nucleotide variant (3 prime UTR variant)	Hearing loss, X-linked 1 +2 more	GUncertain significance
Select item 367704	NM_002764.4(PRPS1):c.*159G>A	PRPS1	Single nucleotide variant (3 prime UTR variant)	Hearing loss, X-linked 1 +2 more	GUncertain significance
Select item 367703	NM_002764.4(PRPS1):c.*88C>T	PRPS1	Single nucleotide variant (3 prime UTR variant)	Phosphoribosylpyrophosphate synthetase superactivity +2 more	GUncertain significance
Select item 367702	NM_002764.4(PRPS1):c.444G>A (p.Glu148=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Phosphoribosylpyrophosphate synthetase superactivity +4 more	GBenign/Likely benign
Select item 367701	NM_002764.3(PRPS1):c.-153delG	PRPS1	Deletion	X-linked nonsyndromic hearing loss +3 more	GLikely benign
Select item 223100	NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro)	PRPS1 (Q277P +1 more)	Single nucleotide variant (missense variant)	Arts syndrome +1 more	GPathogenic
Select item 164996	NM_002764.4(PRPS1):c.456A>G (p.Leu152=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +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 29989	NM_002764.4(PRPS1):c.424G>C (p.Val142Leu)	PRPS1 (V142L)	Single nucleotide variant (missense variant +1 more)	Arts syndrome	GPathogenic
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 9937	NM_002764.4(PRPS1):c.398A>C (p.Gln133Pro)	PRPS1 (Q133P)	Single nucleotide variant (missense variant +1 more)	Arts syndrome	GPathogenic
Select item 9936	NM_002764.4(PRPS1):c.455T>C (p.Leu152Pro)	PRPS1 (L152P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 9929	NM_002764.4(PRPS1):c.547G>C (p.Asp183His)	PRPS1 (D183H)	Single nucleotide variant (5 prime UTR variant +1 more)	Arts syndrome	GLikely pathogenic
Select item 9928	NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser)	PRPS1 (N114S)	Single nucleotide variant (missense variant +1 more)	Arts syndrome +1 more	GLikely pathogenic

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Links from MedGen

Items: 47