ClinVar for MedGen (Select 370358) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500350	NM_002764.4(PRPS1):c.755T>A (p.Ile252Asn)	PRPS1 (I252N +1 more)	Single nucleotide variant (missense variant)	Phosphoribosylpyrophosphate synthetase superactivity	GUncertain significance
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 1333893	NM_002764.4(PRPS1):c.497C>T (p.Thr166Ile)	PRPS1 (T166I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 1228702	NM_002764.4(PRPS1):c.705-11T>C	PRPS1	Single nucleotide variant (intron variant)	not provided +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)	Hearing loss, X-linked 1 +4 more	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)	Phosphoribosylpyrophosphate synthetase superactivity +2 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 807472	NM_002764.4(PRPS1):c.433T>G (p.Leu145Val)	PRPS1 (L145V)	Single nucleotide variant (missense variant +1 more)	Phosphoribosylpyrophosphate synthetase superactivity	GLikely pathogenic
Select item 804069	NM_002764.4(PRPS1):c.359G>T (p.Gly120Val)	PRPS1 (G120V)	Single nucleotide variant (missense variant +1 more)	Phosphoribosylpyrophosphate synthetase superactivity	GLikely pathogenic
Select item 701064	NM_002764.4(PRPS1):c.720C>T (p.Gly240=)	PRPS1	Single nucleotide variant (synonymous variant)	PRPS1-related disorder +4 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)	Charcot-Marie-Tooth Neuropathy X +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)	not specified +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)	not provided +6 more	GBenign/Likely benign
Select item 367712	NM_002764.4(PRPS1):c.*938dup	PRPS1	Duplication (3 prime UTR variant)	X-linked nonsyndromic hearing loss +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)	Charcot-Marie-Tooth Neuropathy X +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 164996	NM_002764.4(PRPS1):c.456A>G (p.Leu152=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	History of neurodevelopmental disorder +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)	Hearing loss, X-linked 1 +6 more	GBenign/Likely benign
Select item 21323	NM_002764.4(PRPS1):c.447G>A (p.Pro149=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 9933	NM_002764.4(PRPS1):c.579C>G (p.His193Gln)	PRPS1 (H193Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Phosphoribosylpyrophosphate synthetase superactivity	GPathogenic
Select item 9932	NM_002764.4(PRPS1):c.569C>T (p.Ala190Val)	PRPS1 (A190V)	Single nucleotide variant (5 prime UTR variant +1 more)	Phosphoribosylpyrophosphate synthetase superactivity	GPathogenic
Select item 9931	NM_002764.4(PRPS1):c.385C>A (p.Leu129Ile)	PRPS1 (L129I)	Single nucleotide variant (missense variant +1 more)	Phosphoribosylpyrophosphate synthetase superactivity	GPathogenic
Select item 9930	NM_002764.4(PRPS1):c.154G>C (p.Asp52His)	PRPS1 (D52H)	Single nucleotide variant (missense variant +1 more)	Phosphoribosylpyrophosphate synthetase superactivity	GPathogenic
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)	Inborn genetic diseases +1 more	GLikely pathogenic

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Items: 42