ClinVar for Gene (Select 80164) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310500	NM_001190467.2(PRR36):c.1826C>T (p.Ser609Phe)	PRR36 (S609F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310499	NM_001190467.2(PRR36):c.199G>A (p.Gly67Arg)	PRR36 (G67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310498	NM_001190467.2(PRR36):c.3419C>G (p.Pro1140Arg)	PRR36 (P1140R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310497	NM_001190467.2(PRR36):c.3019C>T (p.Pro1007Ser)	LOC112577457, PRR36 (P1007S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310496	NM_001190467.2(PRR36):c.3203C>T (p.Pro1068Leu)	PRR36 (P1068L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310495	NM_001190467.2(PRR36):c.20A>T (p.Lys7Met)	PRR36 (K7M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310494	NM_001190467.2(PRR36):c.205A>G (p.Thr69Ala)	PRR36 (T69A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3310493	NM_001190467.2(PRR36):c.1111C>T (p.Pro371Ser)	PRR36 (P371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310492	NM_001190467.2(PRR36):c.2275A>T (p.Asn759Tyr)	PRR36 (N759Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219525	NM_001190467.2(PRR36):c.91G>C (p.Gly31Arg)	PRR36 (G31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219524	NM_001190467.2(PRR36):c.791G>A (p.Arg264Lys)	PRR36 (R264K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219523	NM_001190467.2(PRR36):c.635C>T (p.Ala212Val)	PRR36 (A212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219521	NM_001190467.2(PRR36):c.3749G>A (p.Gly1250Glu)	PRR36 (G1250E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219520	NM_001190467.2(PRR36):c.3448C>A (p.Pro1150Thr)	PRR36 (P1150T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219518	NM_001190467.2(PRR36):c.322A>G (p.Asn108Asp)	PRR36 (N108D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219517	NM_001190467.2(PRR36):c.3073C>T (p.Pro1025Ser)	LOC112577457, PRR36 (P1025S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219516	NM_001190467.2(PRR36):c.2948T>A (p.Leu983His)	LOC112577457, PRR36 (L983H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219515	NM_001190467.2(PRR36):c.2843C>T (p.Ala948Val)	PRR36 (A948V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219514	NM_001190467.2(PRR36):c.262C>G (p.Arg88Gly)	PRR36 (R88G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219513	NM_001190467.2(PRR36):c.2563C>T (p.Pro855Ser)	PRR36 (P855S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219512	NM_001190467.2(PRR36):c.250G>A (p.Gly84Arg)	PRR36 (G84R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219509	NM_001190467.2(PRR36):c.1123C>T (p.Pro375Ser)	PRR36 (P375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219508	NM_001190467.2(PRR36):c.1100C>T (p.Ala367Val)	PRR36 (A367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219507	NM_001190467.2(PRR36):c.1018C>T (p.Pro340Ser)	PRR36 (P340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649184	NM_001190467.2(PRR36):c.390C>G (p.Gly130=)	PRR36	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649183	NM_001190467.2(PRR36):c.1390C>G (p.Leu464Val)	PRR36 (L464V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649182	NM_001190467.2(PRR36):c.2226G>A (p.Pro742=)	PRR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649181	NM_001190467.2(PRR36):c.2880A>G (p.Pro960=)	LOC112577457, PRR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620731	NM_001190467.2(PRR36):c.3715C>G (p.Pro1239Ala)	PRR36 (P1239A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603291	NM_001190467.2(PRR36):c.2033C>A (p.Pro678His)	PRR36 (P678H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545915	NM_001190467.2(PRR36):c.2623C>G (p.Pro875Ala)	PRR36 (P875A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540652	NM_001190467.2(PRR36):c.1838C>T (p.Ala613Val)	PRR36 (A613V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533488	NM_001190467.2(PRR36):c.691G>A (p.Gly231Ser)	PRR36 (G231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523894	NM_001190467.2(PRR36):c.1060C>A (p.Pro354Thr)	PRR36 (P354T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523278	NM_001190467.2(PRR36):c.1646T>C (p.Val549Ala)	PRR36 (V549A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509925	NM_001190467.2(PRR36):c.155C>T (p.Ala52Val)	PRR36 (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494075	NM_001190467.2(PRR36):c.986C>T (p.Ala329Val)	PRR36 (A329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483247	NM_001190467.2(PRR36):c.3009G>C (p.Leu1003Phe)	LOC112577457, PRR36 (L1003F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482301	NM_001190467.2(PRR36):c.1052C>A (p.Pro351His)	PRR36 (P351H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474167	NM_001190467.2(PRR36):c.1756C>G (p.Pro586Ala)	PRR36 (P586A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470001	NM_001190467.2(PRR36):c.2773C>T (p.Pro925Ser)	PRR36 (P925S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408814	NM_001190467.2(PRR36):c.167A>G (p.Lys56Arg)	PRR36 (K56R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2403631	NM_001190467.2(PRR36):c.2967G>T (p.Gln989His)	LOC112577457, PRR36 (Q989H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400576	NM_001190467.2(PRR36):c.349C>T (p.Pro117Ser)	PRR36 (P117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394479	NM_001190467.2(PRR36):c.3440C>G (p.Ser1147Cys)	PRR36 (S1147C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390277	NM_001190467.2(PRR36):c.3133C>G (p.Pro1045Ala)	LOC112577457, PRR36 (P1045A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384479	NM_001190467.2(PRR36):c.1940C>G (p.Ala647Gly)	PRR36 (A647G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373725	NM_001190467.2(PRR36):c.2494C>T (p.Pro832Ser)	PRR36 (P832S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372347	NM_001190467.2(PRR36):c.397G>C (p.Gly133Arg)	PRR36 (G133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363806	NM_001190467.2(PRR36):c.196G>T (p.Gly66Cys)	PRR36 (G66C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352570	NM_001190467.2(PRR36):c.3997C>T (p.Pro1333Ser)	PRR36 (P1333S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351847	NM_001190467.2(PRR36):c.2537C>T (p.Ala846Val)	PRR36 (A846V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347987	NM_001190467.2(PRR36):c.2716C>T (p.Pro906Ser)	PRR36 (P906S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344870	NM_001190467.2(PRR36):c.1459C>T (p.Pro487Ser)	PRR36 (P487S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331074	NM_001190467.2(PRR36):c.3826G>A (p.Gly1276Ser)	PRR36 (G1276S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329600	NM_001190467.2(PRR36):c.3263C>T (p.Ser1088Phe)	PRR36 (S1088F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327099	NM_001190467.2(PRR36):c.2894C>T (p.Ala965Val)	LOC112577457, PRR36 (A965V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324496	NM_001190467.2(PRR36):c.2020C>A (p.Pro674Thr)	PRR36 (P674T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318818	NM_001190467.2(PRR36):c.997C>A (p.Pro333Thr)	PRR36 (P333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313502	NM_001190467.2(PRR36):c.2656C>T (p.Pro886Ser)	PRR36 (P886S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291701	NM_001190467.2(PRR36):c.89C>G (p.Pro30Arg)	PRR36 (P30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277622	NM_001190467.2(PRR36):c.185C>A (p.Ala62Glu)	PRR36 (A62E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265571	NM_001190467.2(PRR36):c.1083C>G (p.Ser361Arg)	PRR36 (S361R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242686	NM_001190467.2(PRR36):c.574C>A (p.Pro192Thr)	PRR36 (P192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239639	NM_001190467.2(PRR36):c.1181C>A (p.Pro394His)	PRR36 (P394H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215640	NM_001190467.2(PRR36):c.22G>T (p.Ala8Ser)	PRR36 (A8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209806	NM_001190467.2(PRR36):c.283C>A (p.Pro95Thr)	PRR36 (P95T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 150535	GRCh38/hg38 19p13.2(chr19:7723086-7883268)x3	CD209, CLEC4G +12 more	Copy number gain	See cases	GLikely benign
Select item 89070	NM_001190467.2(PRR36):c.2295G>A (p.Pro765=)	PRR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 70