ClinVar for Gene (Select 5795) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3428123	NM_002843.4(PTPRJ):c.2078A>G (p.Tyr693Cys)	PTPRJ (Y693C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428122	NM_002843.4(PTPRJ):c.505C>T (p.Pro169Ser)	PTPRJ (P169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428121	NM_002843.4(PTPRJ):c.3944C>T (p.Thr1315Ile)	PTPRJ (T1315I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428120	NM_002843.4(PTPRJ):c.514A>G (p.Asn172Asp)	PTPRJ (N172D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428119	NM_002843.4(PTPRJ):c.2333C>G (p.Thr778Arg)	PTPRJ (T778R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428118	NM_002843.4(PTPRJ):c.983C>T (p.Thr328Met)	PTPRJ (T328M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428117	NM_002843.4(PTPRJ):c.728T>C (p.Ile243Thr)	PTPRJ (I243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428116	NM_002843.4(PTPRJ):c.2342C>T (p.Thr781Met)	PTPRJ (T781M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3428115	NM_002843.4(PTPRJ):c.1607A>G (p.Asn536Ser)	PTPRJ (N536S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428113	NM_002843.4(PTPRJ):c.1481C>T (p.Ser494Phe)	PTPRJ (S494F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428112	NM_002843.4(PTPRJ):c.3121T>A (p.Phe1041Ile)	PTPRJ (F1041I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428111	NM_002843.4(PTPRJ):c.3293A>G (p.Asn1098Ser)	PTPRJ (N1098S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428110	NM_002843.4(PTPRJ):c.3382T>C (p.Trp1128Arg)	PTPRJ (W1128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428109	NM_002843.4(PTPRJ):c.2890G>A (p.Val964Ile)	PTPRJ (V964I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428108	NM_002843.4(PTPRJ):c.3112A>G (p.Asn1038Asp)	PTPRJ (N1038D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428107	NM_002843.4(PTPRJ):c.1019G>C (p.Arg340Pro)	PTPRJ (R340P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428106	NM_002843.4(PTPRJ):c.3095A>G (p.Lys1032Arg)	PTPRJ (K1032R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428105	NM_002843.4(PTPRJ):c.2306C>T (p.Ser769Phe)	PTPRJ (S769F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428103	NM_002843.4(PTPRJ):c.2672A>G (p.Glu891Gly)	PTPRJ (E891G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428102	NM_002843.4(PTPRJ):c.64C>T (p.Pro22Ser)	LOC130005691, PTPRJ (P22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428101	NM_002843.4(PTPRJ):c.1517T>C (p.Ile506Thr)	PTPRJ (I506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428100	NM_002843.4(PTPRJ):c.2333C>T (p.Thr778Met)	PTPRJ (T778M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428099	NM_002843.4(PTPRJ):c.369T>G (p.Phe123Leu)	PTPRJ (F123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428098	NM_002843.4(PTPRJ):c.19G>A (p.Glu7Lys)	LOC130005691, PTPRJ (E7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352915	NM_002843.4(PTPRJ):c.3441C>G (p.Thr1147=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3352648	NM_002843.4(PTPRJ):c.68TGC[5] (p.Leu28del)	LOC130005691, PTPRJ (L28del)	Microsatellite (inframe_deletion)	PTPRJ-related disorder	GLikely benign
Select item 3351351	NM_002843.4(PTPRJ):c.3793G>A (p.Val1265Met)	PTPRJ (V1265M)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 3311587	NM_002843.4(PTPRJ):c.4007T>A (p.Ile1336Asn)	PTPRJ (I1336N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311586	NM_002843.4(PTPRJ):c.3619G>A (p.Gly1207Ser)	PTPRJ (G1207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311585	NM_002843.4(PTPRJ):c.1816A>G (p.Ile606Val)	PTPRJ (I606V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311584	NM_002843.4(PTPRJ):c.2968G>C (p.Val990Leu)	PTPRJ (V990L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311583	NM_002843.4(PTPRJ):c.832A>G (p.Asn278Asp)	PTPRJ (N278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256509	NM_002843.4(PTPRJ):c.2681G>A (p.Arg894His)	PTPRJ (R894H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149460	NM_002843.4(PTPRJ):c.8C>T (p.Pro3Leu)	LOC130005691, PTPRJ (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149459	NM_002843.4(PTPRJ):c.800A>T (p.Gln267Leu)	PTPRJ (Q267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149458	NM_002843.4(PTPRJ):c.665A>G (p.Lys222Arg)	PTPRJ (K222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149457	NM_002843.4(PTPRJ):c.508T>C (p.Trp170Arg)	PTPRJ (W170R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149455	NM_002843.4(PTPRJ):c.3874A>C (p.Asn1292His)	PTPRJ (N1292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149454	NM_002843.4(PTPRJ):c.3774G>T (p.Gln1258His)	PTPRJ (Q1258H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149453	NM_002843.4(PTPRJ):c.3490A>G (p.Ile1164Val)	PTPRJ (I1164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149452	NM_002843.4(PTPRJ):c.3377T>C (p.Met1126Thr)	PTPRJ (M1126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149451	NM_002843.4(PTPRJ):c.3040A>C (p.Lys1014Gln)	PTPRJ (K1014Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149450	NM_002843.4(PTPRJ):c.2905G>A (p.Asp969Asn)	PTPRJ (D969N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149449	NM_002843.4(PTPRJ):c.2564C>T (p.Thr855Ile)	PTPRJ (T855I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149447	NM_002843.4(PTPRJ):c.2480C>G (p.Ser827Cys)	PTPRJ (S827C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149446	NM_002843.4(PTPRJ):c.242C>A (p.Thr81Lys)	PTPRJ (T81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149445	NM_002843.4(PTPRJ):c.2384C>T (p.Thr795Ile)	PTPRJ (T795I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149444	NM_002843.4(PTPRJ):c.2241T>G (p.Asn747Lys)	PTPRJ (N747K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149443	NM_002843.4(PTPRJ):c.1950C>A (p.Asp650Glu)	PTPRJ (D650E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149442	NM_002843.4(PTPRJ):c.1837G>A (p.Val613Ile)	PTPRJ (V613I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149441	NM_002843.4(PTPRJ):c.1742C>G (p.Ser581Cys)	PTPRJ (S581C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149440	NM_002843.4(PTPRJ):c.1690G>A (p.Asp564Asn)	PTPRJ (D564N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149439	NM_002843.4(PTPRJ):c.1324G>C (p.Glu442Gln)	PTPRJ (E442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149437	NM_002843.4(PTPRJ):c.1244G>A (p.Ser415Asn)	PTPRJ (S415N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149436	NM_002843.4(PTPRJ):c.1133G>T (p.Ser378Ile)	PTPRJ (S378I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061200	NM_002843.4(PTPRJ):c.3776T>C (p.Ile1259Thr)	PTPRJ (I1259T)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 3059693	NM_002843.4(PTPRJ):c.2577T>C (p.Ala859=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3058653	NM_002843.4(PTPRJ):c.2505C>G (p.Val835=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3058251	NM_002843.4(PTPRJ):c.4008C>T (p.Ile1336=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3058130	NM_002843.4(PTPRJ):c.3683A>G (p.Gln1228Arg)	PTPRJ (Q1228R)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GLikely benign
Select item 3057828	NM_002843.4(PTPRJ):c.3792C>T (p.Thr1264=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3055075	NM_002843.4(PTPRJ):c.449A>C (p.Lys150Thr)	PTPRJ (K150T)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 3052870	NM_002843.4(PTPRJ):c.2443+8A>G	PTPRJ	Single nucleotide variant (intron variant)	PTPRJ-related disorder	GLikely benign
Select item 3051776	NM_002843.4(PTPRJ):c.2181C>T (p.Cys727=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3050954	NM_002843.4(PTPRJ):c.2043C>T (p.Asp681=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3050444	NM_002843.4(PTPRJ):c.1179G>A (p.Ser393=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3047947	NM_002843.4(PTPRJ):c.1701C>T (p.Ser567=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3045838	NM_002843.4(PTPRJ):c.3719+4C>T	PTPRJ	Single nucleotide variant (intron variant)	PTPRJ-related disorder	GLikely benign
Select item 3045836	NM_002843.4(PTPRJ):c.3506C>T (p.Thr1169Ile)	PTPRJ (T1169I)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GLikely benign
Select item 3042100	NM_002843.4(PTPRJ):c.1495A>G (p.Thr499Ala)	PTPRJ (T499A)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GBenign
Select item 3039529	NM_002843.4(PTPRJ):c.1410C>G (p.Ile470Met)	PTPRJ (I470M)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GLikely benign
Select item 3037974	NM_002843.4(PTPRJ):c.1274G>A (p.Arg425His)	PTPRJ (R425H)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GLikely benign
Select item 3036019	NM_002843.4(PTPRJ):c.2478A>C (p.Thr826=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3035874	NM_002843.4(PTPRJ):c.1845G>C (p.Gly615=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3035511	NM_002843.4(PTPRJ):c.3664G>A (p.Val1222Ile)	PTPRJ (V1222I)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GLikely benign
Select item 3034740	NM_002843.4(PTPRJ):c.2008G>A (p.Ala670Thr)	PTPRJ (A670T)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 3034448	NM_002843.4(PTPRJ):c.105C>T (p.Cys35=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3031402	NM_002843.4(PTPRJ):c.582T>A (p.Thr194=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3031155	NM_002843.4(PTPRJ):c.3230-10A>C	PTPRJ	Single nucleotide variant (intron variant)	PTPRJ-related disorder	GLikely benign
Select item 2641773	NM_002843.4(PTPRJ):c.3481T>G (p.Tyr1161Asp)	PTPRJ (Y1161D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641772	NM_002843.4(PTPRJ):c.447C>T (p.Tyr149=)	PTPRJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641771	NM_002843.4(PTPRJ):c.282T>C (p.Asp94=)	PTPRJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635471	NM_002843.4(PTPRJ):c.172A>T (p.Ile58Leu)	PTPRJ (I58L)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 2635083	NM_002843.4(PTPRJ):c.1996A>G (p.Asn666Asp)	PTPRJ (N666D)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 2634057	NM_002843.4(PTPRJ):c.68TGC[7] (p.Leu28_Arg29insLeu)	LOC130005691, PTPRJ	Microsatellite (inframe_insertion)	PTPRJ-related disorder	GUncertain significance
Select item 2630937	NM_002843.4(PTPRJ):c.463C>T (p.His155Tyr)	PTPRJ (H155Y)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 2623616	NM_002843.4(PTPRJ):c.2966C>G (p.Thr989Ser)	PTPRJ (T989S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615235	NM_002843.4(PTPRJ):c.1006G>C (p.Glu336Gln)	PTPRJ (E336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595206	NM_002843.4(PTPRJ):c.1895T>C (p.Ile632Thr)	PTPRJ (I632T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577547	NM_002843.4(PTPRJ):c.1875del	PTPRJ	Deletion (splice acceptor variant)	Thrombocytopenia 10	GPathogenic
Select item 2577546	NM_002843.4(PTPRJ):c.97-2A>G	PTPRJ	Single nucleotide variant (splice acceptor variant)	Thrombocytopenia 10	GPathogenic
Select item 2557965	NM_002843.4(PTPRJ):c.2543A>T (p.Lys848Ile)	PTPRJ (K848I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556406	NM_002843.4(PTPRJ):c.3856G>C (p.Asp1286His)	PTPRJ (D1286H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548368	NM_002843.4(PTPRJ):c.203T>G (p.Phe68Cys)	PTPRJ (F68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540709	NM_002843.4(PTPRJ):c.2231C>G (p.Pro744Arg)	PTPRJ (P744R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533231	NM_002843.4(PTPRJ):c.1081G>A (p.Glu361Lys)	PTPRJ (E361K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531765	NM_002843.4(PTPRJ):c.2300G>A (p.Ser767Asn)	PTPRJ (S767N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529613	NM_002843.4(PTPRJ):c.2285C>T (p.Ala762Val)	PTPRJ (A762V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523489	NM_002843.4(PTPRJ):c.1592C>T (p.Ser531Phe)	PTPRJ (S531F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514477	NM_002843.4(PTPRJ):c.2164A>G (p.Met722Val)	PTPRJ (M722V)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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