Related gene-specific medical variations for Gene (Select 55615) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310507	NM_181333.4(PRR5):c.385A>G (p.Met129Val)	PRR5, PRR5-ARHGAP8 (M120V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310506	NM_181333.4(PRR5):c.583G>A (p.Glu195Lys)	PRR5, PRR5-ARHGAP8 (E100K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3310505	NM_181333.4(PRR5):c.1105C>T (p.Arg369Trp)	PRR5, PRR5-ARHGAP8 (R360W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310504	NM_181333.4(PRR5):c.400T>C (p.Phe134Leu)	PRR5, PRR5-ARHGAP8 (F134L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310501	NM_181333.4(PRR5):c.367T>C (p.Phe123Leu)	PRR5, PRR5-ARHGAP8 (F146L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219542	NM_181334.6(PRR5-ARHGAP8):c.61A>G (p.Arg21Gly)	PRR5, PRR5-ARHGAP8 (R21G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219539	NM_181333.4(PRR5):c.823G>A (p.Gly275Ser)	PRR5, PRR5-ARHGAP8 (G180S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219538	NM_181333.4(PRR5):c.802G>C (p.Ala268Pro)	PRR5, PRR5-ARHGAP8 (A291P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219535	NM_181333.4(PRR5):c.548T>C (p.Val183Ala)	PRR5, PRR5-ARHGAP8 (V174A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219534	NM_181333.4(PRR5):c.523C>G (p.Pro175Ala)	PRR5, PRR5-ARHGAP8 (P175A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219532	NM_181333.4(PRR5):c.442G>A (p.Ala148Thr)	PRR5, PRR5-ARHGAP8 (A139T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219530	NM_181333.4(PRR5):c.1028C>T (p.Ser343Phe)	PRR5, PRR5-ARHGAP8 (S248F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653275	NM_181333.4(PRR5):c.871G>A (p.Glu291Lys)	PRR5, PRR5-ARHGAP8 (E196K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2603507	NM_181333.4(PRR5):c.959G>C (p.Ser320Thr)	PRR5, PRR5-ARHGAP8 (S320T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553615	NM_181333.4(PRR5):c.709C>T (p.Arg237Cys)	PRR5, PRR5-ARHGAP8 (R142C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519010	NM_181333.4(PRR5):c.935C>T (p.Ala312Val)	PRR5, PRR5-ARHGAP8 (A335V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486107	NM_181333.4(PRR5):c.476G>A (p.Ser159Asn)	PRR5, PRR5-ARHGAP8 (S182N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468706	NM_181333.4(PRR5):c.577G>A (p.Val193Met)	PRR5, PRR5-ARHGAP8 (V184M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346976	NM_181333.4(PRR5):c.503G>A (p.Arg168Gln)	PRR5, PRR5-ARHGAP8 (R73Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326407	NM_181333.4(PRR5):c.362T>A (p.Phe121Tyr)	PRR5, PRR5-ARHGAP8 (F26Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283698	NM_181333.4(PRR5):c.1009C>T (p.Arg337Cys)	PRR5, PRR5-ARHGAP8 (R242C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281567	NM_181333.4(PRR5):c.783C>G (p.Asn261Lys)	PRR5, PRR5-ARHGAP8 (N166K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265088	NM_181333.4(PRR5):c.321G>T (p.Glu107Asp)	PRR5, PRR5-ARHGAP8 (E98D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260137	NM_181333.4(PRR5):c.752G>A (p.Arg251His)	PRR5, PRR5-ARHGAP8 (R156H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260005	NM_181333.4(PRR5):c.514C>T (p.Arg172Cys)	PRR5, PRR5-ARHGAP8 (R172C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234384	NM_181333.4(PRR5):c.904G>T (p.Gly302Cys)	PRR5, PRR5-ARHGAP8 (G325C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234058	NM_181333.4(PRR5):c.475A>G (p.Ser159Gly)	PRR5, PRR5-ARHGAP8 (S150G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226554	NM_181333.4(PRR5):c.494C>T (p.Ala165Val)	PRR5, PRR5-ARHGAP8 (A165V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221223	NM_181333.4(PRR5):c.361T>G (p.Phe121Val)	PRR5, PRR5-ARHGAP8 (F112V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220302	NM_181333.4(PRR5):c.1025G>A (p.Arg342His)	PRR5, PRR5-ARHGAP8 (R333H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 156717	NM_181334.6(PRR5-ARHGAP8):c.166C>A (p.Arg56Ser)	PRR5-ARHGAP8, PRR5 (R47S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided

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Links from Gene

Items: 31