ClinVar for MedGen (Select 374254) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710220	NM_002764.4(PRPS1):c.826C>T (p.Pro276Ser)	PRPS1 (P276S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked recessive 5	GLikely pathogenic
Select item 1477376	NM_002764.4(PRPS1):c.383A>T (p.Asp128Val)	PRPS1 (D128V)	Single nucleotide variant (missense variant +1 more)	Arts syndrome +4 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 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 508528	NM_002764.4(PRPS1):c.573G>A (p.Leu191=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Nephrolithiasis/nephrocalcinosis +6 more	GBenign/Likely benign
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)	Charcot-Marie-Tooth Neuropathy X +6 more	GBenign/Likely 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 140573	NM_002764.4(PRPS1):c.925G>T (p.Val309Phe)	PRPS1 (V105F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked recessive 5	GPathogenic
Select item 140572	NM_002764.4(PRPS1):c.343A>G (p.Met115Val)	PRPS1	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 100767	NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly)	PRPS1 (A121G)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease X-linked recessive 5	GPathogenic
Select item 94083	NM_002764.4(PRPS1):c.477C>T (p.Ile159=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	Charcot-Marie-Tooth Neuropathy X +6 more	GBenign/Likely benign
Select item 9935	NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	PRPS1 (M115T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	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