9670[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3311532	NM_002840.5(PTPRF):c.29C>G (p.Thr10Arg)	PTPRF (T10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604465	NM_002840.5(PTPRF):c.29C>T (p.Thr10Met)	PTPRF (T10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589459	NM_002840.5(PTPRF):c.55G>A (p.Val19Met)	PTPRF (V19M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638758	NM_002840.5(PTPRF):c.78C>T (p.Gly26=)	PTPRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2464185	NM_002840.5(PTPRF):c.93C>G (p.Ser31Arg)	PTPRF (S31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057283	NM_002840.5(PTPRF):c.111A>G (p.Lys37=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3311551	NM_002840.5(PTPRF):c.112G>T (p.Val38Phe)	PTPRF (V38F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208166	NM_002840.5(PTPRF):c.199A>C (p.Met67Leu)	PTPRF (M67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510598	NM_002840.5(PTPRF):c.230G>A (p.Arg77His)	PTPRF (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775540	NM_002840.5(PTPRF):c.234C>T (p.Phe78=)	PTPRF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719243	NM_002840.5(PTPRF):c.237+5G>A	PTPRF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2385930	NM_002840.5(PTPRF):c.251A>G (p.Asp84Gly)	PTPRF (D84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149366	NM_002840.5(PTPRF):c.318G>C (p.Glu106Asp)	PTPRF (E106D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318407	NM_002840.5(PTPRF):c.462G>A (p.Met154Ile)	PTPRF (M154I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059678	NM_002840.5(PTPRF):c.471C>T (p.Ala157=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GBenign
Select item 2283499	NM_002840.5(PTPRF):c.500C>A (p.Ser167Tyr)	PTPRF (S167Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311530	NM_002840.5(PTPRF):c.536C>T (p.Thr179Met)	PTPRF (T179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149377	NM_002840.5(PTPRF):c.563G>A (p.Arg188His)	PTPRF (R188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041439	NM_002840.5(PTPRF):c.636G>A (p.Ser212=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 2274821	NM_002840.5(PTPRF):c.658C>T (p.Pro220Ser)	PTPRF (P220S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 793336	NM_002840.5(PTPRF):c.663G>A (p.Ala221=)	PTPRF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3311545	NM_002840.5(PTPRF):c.686G>A (p.Arg229His)	PTPRF (R229H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149378	NM_002840.5(PTPRF):c.760G>A (p.Val254Met)	PTPRF (V260M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149379	NM_002840.5(PTPRF):c.785A>G (p.Tyr262Cys)	PTPRF (Y268C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792358	NM_002840.5(PTPRF):c.786C>T (p.Tyr262=)	PTPRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3311543	NM_002840.5(PTPRF):c.787G>A (p.Val263Met)	PTPRF (V263M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149380	NM_002840.5(PTPRF):c.796A>G (p.Met266Val)	PTPRF (M266V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149381	NM_002840.5(PTPRF):c.808G>A (p.Glu270Lys)	PTPRF (E270K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149382	NM_002840.5(PTPRF):c.818C>G (p.Thr273Ser)	PTPRF (T283S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609949	NM_002840.5(PTPRF):c.953T>C (p.Leu318Pro)	PTPRF (L318P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149383	NM_002840.5(PTPRF):c.976G>A (p.Val326Met)	PTPRF (V326M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311549	NM_002840.5(PTPRF):c.1030T>C (p.Ser344Pro)	PTPRF (S350P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149350	NM_002840.5(PTPRF):c.1043C>A (p.Thr348Asn)	PTPRF (T354N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734792	NM_002840.5(PTPRF):c.1066G>T (p.Ala356Ser)	PTPRF (A356S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2312478	NM_002840.5(PTPRF):c.1079A>G (p.Glu360Gly)	PTPRF (E370G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719066	NM_002840.5(PTPRF):c.1113C>T (p.Thr371=)	PTPRF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2495331	NM_002840.5(PTPRF):c.1163G>A (p.Arg388His)	PTPRF (R388H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051560	NM_002840.5(PTPRF):c.1196C>T (p.Pro399Leu)	PTPRF (P399L +2 more)	Single nucleotide variant (missense variant)	PTPRF-related disorder	GLikely benign
Select item 3149351	NM_002840.5(PTPRF):c.1219C>A (p.Arg407Ser)	PTPRF (R413S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352031	NM_002840.5(PTPRF):c.1220G>A (p.Arg407His)	PTPRF (R413H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320223	NM_002840.5(PTPRF):c.1233G>C (p.Gln411His)	PTPRF (Q411H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797095	NM_002840.5(PTPRF):c.1257C>T (p.Arg419=)	PTPRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041074	NM_002840.5(PTPRF):c.1323C>T (p.Asn441=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3050031	NM_002840.5(PTPRF):c.1349A>G (p.Tyr450Cys)	PTPRF (Y450C +2 more)	Single nucleotide variant (missense variant)	PTPRF-related disorder	GBenign
Select item 2477143	NM_002840.5(PTPRF):c.1366C>T (p.Arg456Cys)	PTPRF (R466C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044522	NM_002840.5(PTPRF):c.1377G>A (p.Pro459=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 2278397	NM_002840.5(PTPRF):c.1396A>C (p.Asn466His)	PTPRF (N466H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278398	NM_002840.5(PTPRF):c.1397A>C (p.Asn466Thr)	PTPRF (N466T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278399	NM_002840.5(PTPRF):c.1399A>C (p.Thr467Pro)	PTPRF (T467P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550616	NM_002840.5(PTPRF):c.1423G>A (p.Val475Met)	PTPRF (V481M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311535	NM_002840.5(PTPRF):c.1478C>T (p.Ala493Val)	PTPRF (A499V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731269	NM_002840.5(PTPRF):c.1531+9G>A	PTPRF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2390333	NM_002840.5(PTPRF):c.1555C>A (p.Gln519Lys)	PTPRF (Q529K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272172	NM_002840.5(PTPRF):c.1606C>G (p.Pro536Ala)	PTPRF (P536A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608693	NM_002840.5(PTPRF):c.1644G>T (p.Trp548Cys)	PTPRF (W558C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721559	NM_002840.5(PTPRF):c.1647G>A (p.Ala549=)	PTPRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782373	NM_002840.5(PTPRF):c.1668+9C>T	PTPRF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 736158	NM_002840.5(PTPRF):c.1668+10G>C	PTPRF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3149352	NM_002840.5(PTPRF):c.1679C>T (p.Thr560Ile)	PTPRF (T560I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033302	NM_002840.5(PTPRF):c.1684G>A (p.Asp562Asn)	PTPRF (D562N +2 more)	Single nucleotide variant (missense variant)	PTPRF-related disorder	GBenign
Select item 3149353	NM_002840.5(PTPRF):c.1736G>A (p.Arg579His)	PTPRF (R579H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311820	NM_002840.5(PTPRF):c.1754G>A (p.Arg585His)	PTPRF (R585H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1304919	NM_002840.5(PTPRF):c.1806C>A (p.Ala602=)	PTPRF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3041659	NM_002840.5(PTPRF):c.1819T>A (p.Ser607Thr)	PTPRF (S607T)	Single nucleotide variant (missense variant +1 more)	PTPRF-related disorder	GLikely benign
Select item 3051896	NM_002840.5(PTPRF):c.1821C>T (p.Ser607=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	PTPRF-related disorder	GLikely benign
Select item 747245	NM_002840.5(PTPRF):c.1827T>A (p.Pro609=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 155912	NM_002840.5(PTPRF):c.1847_1848del (p.Val616fs)	PTPRF (V616fs)	Microsatellite (frameshift variant +1 more)	Breasts and/or nipples, aplasia or hypoplasia of, 2	GPathogenic
Select item 732027	NM_002840.5(PTPRF):c.1903C>T (p.Arg635Cys)	PTPRF (R635C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2638759	NM_002840.5(PTPRF):c.1944G>A (p.Ala648=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2681506	NM_002840.5(PTPRF):c.1950C>T (p.Asp650=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2376095	NM_002840.5(PTPRF):c.1954G>A (p.Glu652Lys)	PTPRF (E652K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544934	NM_002840.5(PTPRF):c.1960C>T (p.Arg654Cys)	PTPRF (R654C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149354	NM_002840.5(PTPRF):c.1964G>A (p.Gly655Glu)	PTPRF (G655E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253946	NM_002840.5(PTPRF):c.2088C>A (p.Ser696Arg)	PTPRF (S696R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311534	NM_002840.5(PTPRF):c.2101G>T (p.Val701Leu)	PTPRF (V701L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638760	NM_002840.5(PTPRF):c.2109C>T (p.Thr703=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732353	NM_002840.5(PTPRF):c.2124C>T (p.Pro708=)	PTPRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149355	NM_002840.5(PTPRF):c.2245G>A (p.Val749Met)	PTPRF (V657M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311538	NM_002840.5(PTPRF):c.2308G>A (p.Ala770Thr)	PTPRF (A678T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219450	NM_002840.5(PTPRF):c.2318G>A (p.Arg773Gln)	PTPRF (R671Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149356	NM_002840.5(PTPRF):c.2363C>T (p.Thr788Ile)	PTPRF (T677I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311540	NM_002840.5(PTPRF):c.2423G>A (p.Arg808His)	PTPRF (R697H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311544	NM_002840.5(PTPRF):c.2473A>G (p.Thr825Ala)	PTPRF (T816A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728925	NM_002840.5(PTPRF):c.2526A>G (p.Pro842=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3149357	NM_002840.5(PTPRF):c.2530A>G (p.Lys844Glu)	PTPRF (K844E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038762	NM_002840.5(PTPRF):c.2538G>C (p.Leu846=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	PTPRF-related disorder	GLikely benign
Select item 3149358	NM_002840.5(PTPRF):c.2561G>A (p.Arg854Gln)	PTPRF (R845Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056750	NM_002840.5(PTPRF):c.2565G>A (p.Leu855=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	PTPRF-related disorder	GBenign
Select item 2371712	NM_002840.5(PTPRF):c.2588C>T (p.Ala863Val)	PTPRF (A854V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149360	NM_002840.5(PTPRF):c.2596A>G (p.Asn866Asp)	PTPRF (N857D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038938	NM_002840.5(PTPRF):c.2602A>G (p.Ile868Val)	PTPRF (I859V +1 more)	Single nucleotide variant (missense variant +1 more)	PTPRF-related disorder	GLikely benign
Select item 3311548	NM_002840.5(PTPRF):c.2621A>T (p.Asp874Val)	PTPRF (D865V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149361	NM_002840.5(PTPRF):c.2636T>C (p.Val879Ala)	PTPRF (V879A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040737	NM_002840.5(PTPRF):c.2640C>T (p.Thr880=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	PTPRF-related disorder	GLikely benign
Select item 2359057	NM_002840.5(PTPRF):c.2641G>A (p.Gly881Ser)	PTPRF (G881S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273944	NM_002840.5(PTPRF):c.2652G>C (p.Lys884Asn)	PTPRF (K884N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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