"Ambry Genetics"[submitter] AND "PRR18"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2405632	NM_175922.4(PRR18):c.884T>A (p.Leu295Gln)	PRR18 (L295Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619372	NM_175922.4(PRR18):c.881C>G (p.Thr294Arg)	PRR18 (T294R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356228	NM_175922.4(PRR18):c.844C>T (p.Arg282Trp)	PRR18 (R282W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367352	NM_175922.4(PRR18):c.835G>T (p.Ala279Ser)	PRR18 (A279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229995	NM_175922.4(PRR18):c.823T>G (p.Ser275Ala)	PRR18 (S275A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250004	NM_175922.4(PRR18):c.818T>G (p.Val273Gly)	PRR18 (V273G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489442	NM_175922.4(PRR18):c.811C>T (p.Arg271Cys)	PRR18 (R271C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516980	NM_175922.4(PRR18):c.773T>C (p.Val258Ala)	PRR18 (V258A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592144	NM_175922.4(PRR18):c.619G>A (p.Ala207Thr)	PRR18 (A207T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405349	NM_175922.4(PRR18):c.583C>T (p.Pro195Ser)	PRR18 (P195S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344143	NM_175922.4(PRR18):c.580G>T (p.Asp194Tyr)	PRR18 (D194Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300972	NM_175922.4(PRR18):c.565G>A (p.Gly189Ser)	PRR18 (G189S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238383	NM_175922.4(PRR18):c.481C>G (p.Arg161Gly)	PRR18 (R161G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555695	NM_175922.4(PRR18):c.473C>A (p.Ala158Glu)	PRR18 (A158E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591564	NM_175922.4(PRR18):c.332C>T (p.Ser111Leu)	PRR18 (S111L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463336	NM_175922.4(PRR18):c.301A>G (p.Ser101Gly)	PRR18 (S101G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288833	NM_175922.4(PRR18):c.272C>G (p.Ala91Gly)	PRR18 (A91G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612247	NM_175922.4(PRR18):c.251C>G (p.Ala84Gly)	LOC129997654, PRR18 (A84G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351736	NM_175922.4(PRR18):c.220G>A (p.Gly74Ser)	LOC129997654, PRR18 (G74S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551946	NM_175922.4(PRR18):c.211G>A (p.Ala71Thr)	LOC129997654, PRR18 (A71T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276943	NM_175922.4(PRR18):c.205C>A (p.Pro69Thr)	LOC129997654, PRR18 (P69T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377579	NM_175922.4(PRR18):c.188G>T (p.Gly63Val)	LOC129997654, PRR18 (G63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568975	NM_175922.4(PRR18):c.158T>C (p.Leu53Pro)	LOC129997654, PRR18 (L53P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390065	NM_175922.4(PRR18):c.91G>A (p.Asp31Asn)	LOC129997654, PRR18 (D31N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238281	NM_175922.4(PRR18):c.26C>T (p.Pro9Leu)	LOC129997654, PRR18 (P9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345851	NM_175922.4(PRR18):c.22C>T (p.Pro8Ser)	LOC129997654, PRR18 (P8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509611	NM_175922.4(PRR18):c.16A>T (p.Met6Leu)	LOC129997654, PRR18 (M6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 27