"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PRPS1"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1208551	NM_002764.4(PRPS1):c.250C>T (p.Arg84Trp)	PRPS1 (R84W)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic
Select item 1212077	NM_002764.4(PRPS1):c.287G>A (p.Arg96Gln)	PRPS1 (R96Q)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 870776	NM_002764.4(PRPS1):c.395C>T (p.Ser132Phe)	PRPS1 (S132F)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GConflicting classifications of pathogenicity
Select item 1335787	NM_002764.4(PRPS1):c.719G>A (p.Gly240Asp)	PRPS1 (G240D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 239389	NM_002764.4(PRPS1):c.876C>T (p.Ile292=)	PRPS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 227882	NM_002764.4(PRPS1):c.942C>T (p.Ser314=)	PRPS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2673252	NM_002764.4(PRPS1):c.*685C>T	PRPS1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance