PRPS1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367701	NM_002764.3(PRPS1):c.-153delG	PRPS1	Deletion	X-linked nonsyndromic hearing loss +3 more	GLikely benign
Select item 421764	NM_002764.4(PRPS1):c.-45AGC[3]	PRPS1	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 583439	NC_000023.10:g.(?_106871839)_(106893282_?)dup	PRPS1	Duplication	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 649058	NC_000023.10:g.(?_106871849)_(106893272_?)dup	PRPS1	Duplication	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 666743	NM_002764.4(PRPS1):c.12C>T (p.Ile4=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2504550	NM_002764.4(PRPS1):c.21C>A (p.Phe7Leu)	PRPS1 (F7L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1157448	NM_002764.4(PRPS1):c.24C>T (p.Ser8=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 807796	NM_002764.4(PRPS1):c.25G>C (p.Gly9Arg)	PRPS1 (G9R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2806940	NM_002764.4(PRPS1):c.27C>T (p.Gly9=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2875332	NM_002764.4(PRPS1):c.39G>A (p.Gln13=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 681063	NM_002764.4(PRPS1):c.43T>C (p.Leu15=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 223101	NM_002764.4(PRPS1):c.46T>C (p.Ser16Pro)	PRPS1 (S16P)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease X-linked recessive 5	GPathogenic
Select item 446161	NM_002764.4(PRPS1):c.47C>T (p.Ser16Phe)	PRPS1 (S16F)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3016857	NM_002764.4(PRPS1):c.54A>G (p.Lys18=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 543929	NM_002764.4(PRPS1):c.60T>C (p.Ala20=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Nephrolithiasis/nephrocalcinosis +1 more	GLikely benign
Select item 2064049	NM_002764.4(PRPS1):c.63C>T (p.Asp21=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1001412	NM_002764.4(PRPS1):c.69G>A (p.Leu23=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2673251	NM_002764.4(PRPS1):c.74T>C (p.Leu25Pro)	PRPS1 (L25P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 766091	NM_002764.4(PRPS1):c.78G>A (p.Glu26=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1625183	NM_002764.4(PRPS1):c.79C>T (p.Leu27=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2733768	NM_002764.4(PRPS1):c.87G>A (p.Lys29=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2010512	NM_002764.4(PRPS1):c.89T>A (p.Val30Glu)	PRPS1 (V30E)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 503965	NM_002764.4(PRPS1):c.92del (p.Val31fs)	PRPS1 (V31fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1897234	NM_002764.4(PRPS1):c.96T>C (p.Thr32=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1563990	NM_002764.4(PRPS1):c.99G>A (p.Lys33=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2194845	NM_002764.4(PRPS1):c.111C>T (p.Asn37=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2435261	NM_002764.4(PRPS1):c.118A>G (p.Thr40Ala)	PRPS1 (T40A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2742909	NM_002764.4(PRPS1):c.120C>T (p.Thr40=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1578347	NM_002764.4(PRPS1):c.122+10A>G	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1602201	NM_002764.4(PRPS1):c.122+11A>T	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1538395	NM_002764.4(PRPS1):c.122+11A>G	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2850352	NM_002764.4(PRPS1):c.122+13T>C	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1638514	NM_002764.4(PRPS1):c.122+16G>A	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2764615	NM_002764.4(PRPS1):c.122+17G>A	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2019179	NM_002764.4(PRPS1):c.122+18A>G	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 673460	NM_002764.4(PRPS1):c.122+254C>T	PRPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216628	NM_002764.4(PRPS1):c.123-36A>G	PRPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422624	NM_002764.4(PRPS1):c.123-16dup	PRPS1	Duplication (intron variant)	Phosphoribosylpyrophosphate synthetase superactivity +5 more	GBenign/Likely benign
Select item 1646272	NM_002764.4(PRPS1):c.123-6T>C	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1152290	NM_002764.4(PRPS1):c.123-4G>A	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
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 9934	NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp)	PRPS1 (E43D)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease X-linked recessive 5	GPathogenic
Select item 1564439	NM_002764.4(PRPS1):c.135T>C (p.Gly45=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1521644	NM_002764.4(PRPS1):c.143T>C (p.Val48Ala)	PRPS1 (V48A)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 1401541	NM_002764.4(PRPS1):c.149G>A (p.Gly50Glu)	PRPS1 (G50E)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 9930	NM_002764.4(PRPS1):c.154G>C (p.Asp52His)	PRPS1 (D52H)	Single nucleotide variant (missense variant +1 more)	Phosphoribosylpyrophosphate synthetase superactivity	Gno classifications from unflagged records
Select item 1698319	NM_002764.4(PRPS1):c.160T>C (p.Tyr54His)	PRPS1 (Y54H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1618016	NM_002764.4(PRPS1):c.168T>C (p.Val56=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1557232	NM_002764.4(PRPS1):c.171G>A (p.Gln57=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1804256	NM_002764.4(PRPS1):c.173G>A (p.Ser58Asn)	PRPS1 (S58N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 386431	NM_002764.4(PRPS1):c.177T>A (p.Gly59=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
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 1660423	NM_002764.4(PRPS1):c.180T>C (p.Cys60=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2124173	NM_002764.4(PRPS1):c.183C>A (p.Gly61=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 704511	NM_002764.4(PRPS1):c.183C>T (p.Gly61=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1384212	NM_002764.4(PRPS1):c.190A>G (p.Asn64Asp)	PRPS1 (N64D)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2025311	NM_002764.4(PRPS1):c.191A>T (p.Asn64Ile)	PRPS1 (N64I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 9938	NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn)	PRPS1 (D65N)	Single nucleotide variant (missense variant +1 more)	Hearing loss, X-linked 1	GPathogenic
Select item 1311763	NM_002764.4(PRPS1):c.205G>A (p.Glu69Lys)	PRPS1 (E69K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2231349	NM_002764.4(PRPS1):c.219G>A (p.Met73Ile)	PRPS1 (M73I)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 1304820	NM_002764.4(PRPS1):c.220A>G (p.Ile74Val)	PRPS1 (I74V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311602	NM_002764.4(PRPS1):c.224A>C (p.Asn75Thr)	PRPS1 (N75T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2700090	NM_002764.4(PRPS1):c.228C>T (p.Ala76=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1540511	NM_002764.4(PRPS1):c.228C>A (p.Ala76=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1722584	NM_002764.4(PRPS1):c.244G>C (p.Ala82Pro)	PRPS1 (A82P)	Single nucleotide variant (missense variant +1 more)	Hearing loss, X-linked 1	Gnot provided
Select item 234860	NM_002764.4(PRPS1):c.247A>T (p.Ser83Cys)	PRPS1 (S83C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3015392	NM_002764.4(PRPS1):c.248G>T (p.Ser83Ile)	PRPS1 (S83I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 1959105	NM_002764.4(PRPS1):c.249C>T (p.Ser83=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1208551	NM_002764.4(PRPS1):c.250C>T (p.Arg84Trp)	PRPS1 (R84W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1551389	NM_002764.4(PRPS1):c.252G>A (p.Arg84=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 3369227	NM_002764.4(PRPS1):c.256A>G (p.Thr86Ala)	PRPS1 (T86A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 9939	NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr)	PRPS1 (A87T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 1089572	NM_002764.4(PRPS1):c.261A>C (p.Ala87=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2726885	NM_002764.4(PRPS1):c.264C>A (p.Val88=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2074795	NM_002764.4(PRPS1):c.269C>T (p.Pro90Leu)	PRPS1 (P90L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 1999777	NM_002764.4(PRPS1):c.270A>T (p.Pro90=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1169593	NM_002764.4(PRPS1):c.270A>C (p.Pro90=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GBenign
Select item 650241	NM_002764.4(PRPS1):c.272G>A (p.Cys91Tyr)	PRPS1 (C91Y)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 1613890	NM_002764.4(PRPS1):c.282T>C (p.Tyr94=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 3336935	NM_002764.4(PRPS1):c.284C>T (p.Ala95Val)	PRPS1 (A95V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122132	NM_002764.4(PRPS1):c.286C>T (p.Arg96Trp)	PRPS1 (R96W)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GConflicting classifications of pathogenicity
Select item 1212077	NM_002764.4(PRPS1):c.287G>A (p.Arg96Gln)	PRPS1 (R96Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 382624	NM_002764.4(PRPS1):c.288G>A (p.Arg96=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +6 more	GBenign/Likely benign
Select item 2435262	NM_002764.4(PRPS1):c.292G>A (p.Asp98Asn)	PRPS1 (D98N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2578106	NM_002764.4(PRPS1):c.296A>G (p.Lys99Arg)	PRPS1 (K99R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 450558	NM_002764.4(PRPS1):c.301G>A (p.Asp101Asn)	PRPS1 (D101N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1652330	NM_002764.4(PRPS1):c.306+7G>A	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2040176	NM_002764.4(PRPS1):c.306+17A>T	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1236448	NM_002764.4(PRPS1):c.307-31G>C	PRPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2752263	NM_002764.4(PRPS1):c.307-14T>C	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1990390	NM_002764.4(PRPS1):c.307-8C>T	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2126879	NM_002764.4(PRPS1):c.307-6A>G	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely 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 1101330	NM_002764.4(PRPS1):c.315G>A (p.Ala105=)	PRPS1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GLikely benign
Select item 1462291	NM_002764.4(PRPS1):c.316C>A (p.Pro106Thr)	PRPS1 (P106T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 245728	NM_002764.4(PRPS1):c.319A>G (p.Ile107Val)	PRPS1 (I107V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2914615	NM_002764.4(PRPS1):c.333T>G (p.Leu111=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1690358	NM_002764.4(PRPS1):c.334G>C (p.Val112Leu)	PRPS1 (V112L)	Single nucleotide variant (missense variant +1 more)	not provided	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 1730725	NM_002764.4(PRPS1):c.336T>C (p.Val112=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Nephrolithiasis/nephrocalcinosis	GLikely benign

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