5795[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 58161	GRCh38/hg38 11p11.2(chr11:47743903-48643003)x3	FNBP4, LOC111464990 +29 more	Copy number gain	See cases	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 2634057	NM_002843.4(PTPRJ):c.68TGC[7] (p.Leu28_Arg29insLeu)	LOC130005691, PTPRJ	Microsatellite (inframe_insertion)	PTPRJ-related disorder	GUncertain significance
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 2316362	NM_002843.4(PTPRJ):c.85C>T (p.Arg29Cys)	LOC130005691, PTPRJ (R29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150629	GRCh38/hg38 11p11.2-11.12(chr11:47992987-49135735)x3	LOC111464990, LOC112081399 +18 more	Copy number gain	See cases	GUncertain significance
Select item 148872	GRCh38/hg38 11p11.2(chr11:47992987-48761561)x3	OR4A47, OR4B1 +15 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 149097	GRCh38/hg38 11p11.2(chr11:48067028-48761561)x3	MIR3161, OR4A47 +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 2577546	NM_002843.4(PTPRJ):c.97-2A>G	PTPRJ	Single nucleotide variant (splice acceptor variant)	Thrombocytopenia 10	GPathogenic
Select item 724762	NM_002843.4(PTPRJ):c.100C>T (p.Leu34=)	PTPRJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 151273	GRCh38/hg38 11p11.2(chr11:48110126-48623909)x3	OR4A47, OR4B1 +6 more	Copy number gain	See cases	GLikely benign
Select item 2311597	NM_002843.4(PTPRJ):c.130C>A (p.Pro44Thr)	PTPRJ (P44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2548368	NM_002843.4(PTPRJ):c.203T>G (p.Phe68Cys)	PTPRJ (F68C)	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 2407407	NM_002843.4(PTPRJ):c.280G>A (p.Asp94Asn)	PTPRJ (D94N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641771	NM_002843.4(PTPRJ):c.282T>C (p.Asp94=)	PTPRJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641772	NM_002843.4(PTPRJ):c.447C>T (p.Tyr149=)	PTPRJ	Single nucleotide variant (synonymous variant)	not provided	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 2630937	NM_002843.4(PTPRJ):c.463C>T (p.His155Tyr)	PTPRJ (H155Y)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	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 776609	NM_002843.4(PTPRJ):c.575A>G (p.Asn192Ser)	PTPRJ (N192S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2286152	NM_002843.4(PTPRJ):c.620C>T (p.Pro207Leu)	PTPRJ (P207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8689	NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys)	PTPRJ (R214C)	Single nucleotide variant (missense variant)	Carcinoma of colon	GPathogenic
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 2217939	NM_002843.4(PTPRJ):c.715C>T (p.Leu239Phe)	PTPRJ (L239F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470265	NM_002843.4(PTPRJ):c.779C>T (p.Ser260Leu)	PTPRJ (S260L)	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 2513323	NM_002843.4(PTPRJ):c.815C>T (p.Pro272Leu)	PTPRJ (P272L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 8690	NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)	PTPRJ (Q276P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 2293356	NM_002843.4(PTPRJ):c.843G>C (p.Lys281Asn)	PTPRJ (K281N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789482	NM_002843.4(PTPRJ):c.877G>A (p.Ala293Thr)	PTPRJ (A293T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1347002	NM_002843.4(PTPRJ):c.1067A>G (p.Gln356Arg)	PTPRJ (Q356R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2326977	NM_002843.4(PTPRJ):c.1073A>G (p.Gln358Arg)	PTPRJ (Q358R)	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 3149436	NM_002843.4(PTPRJ):c.1133G>T (p.Ser378Ile)	PTPRJ (S378I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3149437	NM_002843.4(PTPRJ):c.1244G>A (p.Ser415Asn)	PTPRJ (S415N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409658	NM_002843.4(PTPRJ):c.1252C>T (p.Arg418Cys)	PTPRJ (R418C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 211973	NM_002843.4(PTPRJ):c.1253G>A (p.Arg418His)	PTPRJ (R418H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2372040	NM_002843.4(PTPRJ):c.1267G>A (p.Gly423Arg)	PTPRJ (G423R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476634	NM_002843.4(PTPRJ):c.1273C>T (p.Arg425Cys)	PTPRJ (R425C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3149439	NM_002843.4(PTPRJ):c.1324G>C (p.Glu442Gln)	PTPRJ (E442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789797	NM_002843.4(PTPRJ):c.1352A>G (p.His451Arg)	PTPRJ (H451R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2460720	NM_002843.4(PTPRJ):c.1366C>G (p.Pro456Ala)	PTPRJ (P456A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 780971	NM_002843.4(PTPRJ):c.1411G>A (p.Gly471Ser)	PTPRJ (G471S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2367171	NM_002843.4(PTPRJ):c.1464G>C (p.Gln488His)	PTPRJ (Q488H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2523489	NM_002843.4(PTPRJ):c.1592C>T (p.Ser531Phe)	PTPRJ (S531F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296095	NM_002843.4(PTPRJ):c.1606A>G (p.Asn536Asp)	PTPRJ (N536D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443229	NM_002843.4(PTPRJ):c.1621A>T (p.Ser541Cys)	PTPRJ (S541C)	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 3047947	NM_002843.4(PTPRJ):c.1701C>T (p.Ser567=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
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 3311585	NM_002843.4(PTPRJ):c.1816A>G (p.Ile606Val)	PTPRJ (I606V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3035874	NM_002843.4(PTPRJ):c.1845G>C (p.Gly615=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 2577547	NM_002843.4(PTPRJ):c.1875del	PTPRJ	Deletion (splice acceptor variant)	Thrombocytopenia 10	GPathogenic
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 718507	NM_002843.4(PTPRJ):c.1905T>A (p.Ser635Arg)	PTPRJ (S635R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2635083	NM_002843.4(PTPRJ):c.1996A>G (p.Asn666Asp)	PTPRJ (N666D)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
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 3050954	NM_002843.4(PTPRJ):c.2043C>T (p.Asp681=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 2514477	NM_002843.4(PTPRJ):c.2164A>G (p.Met722Val)	PTPRJ (M722V)	Single nucleotide variant (missense variant)	not specified	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 1336046	NM_002843.4(PTPRJ):c.2182G>A (p.Glu728Lys)	PTPRJ (E728K)	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 3149444	NM_002843.4(PTPRJ):c.2241T>G (p.Asn747Lys)	PTPRJ (N747K)	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 2531765	NM_002843.4(PTPRJ):c.2300G>A (p.Ser767Asn)	PTPRJ (S767N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1474147	NM_002843.4(PTPRJ):c.2318G>A (p.Gly773Asp)	PTPRJ (G773D)	Single nucleotide variant (missense variant)	not provided +1 more	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 3052870	NM_002843.4(PTPRJ):c.2443+8A>G	PTPRJ	Single nucleotide variant (intron variant)	PTPRJ-related disorder	GLikely benign
Select item 732980	NM_002843.4(PTPRJ):c.2444-7G>C	PTPRJ	Single nucleotide variant (intron variant)	not provided	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 3149447	NM_002843.4(PTPRJ):c.2480C>G (p.Ser827Cys)	PTPRJ (S827C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390139	NM_002843.4(PTPRJ):c.2491A>C (p.Asn831His)	PTPRJ (N831H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2557965	NM_002843.4(PTPRJ):c.2543A>T (p.Lys848Ile)	PTPRJ (K848I)	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 3059693	NM_002843.4(PTPRJ):c.2577T>C (p.Ala859=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 2245226	NM_002843.4(PTPRJ):c.2609C>T (p.Thr870Met)	PTPRJ (T870M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226632	NM_002843.4(PTPRJ):c.2680C>T (p.Arg894Cys)	PTPRJ (R894C)	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 1209981	NM_002843.4(PTPRJ):c.2876G>A (p.Arg959His)	PTPRJ (R959H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2623616	NM_002843.4(PTPRJ):c.2966C>G (p.Thr989Ser)	PTPRJ (T989S)	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 1389172	NM_002843.4(PTPRJ):c.3007G>A (p.Ala1003Thr)	PTPRJ (A1003T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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