ClinVar for Gene (Select 5788) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311512	NM_002838.5(PTPRC):c.3874C>T (p.His1292Tyr)	PTPRC (H1292Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311510	NM_002838.5(PTPRC):c.3148A>G (p.Ile1050Val)	PTPRC (I889V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3311509	NM_002838.5(PTPRC):c.1390A>G (p.Ile464Val)	PTPRC (I464V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311508	NM_002838.5(PTPRC):c.3335A>G (p.Lys1112Arg)	PTPRC (K1112R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311507	NM_002838.5(PTPRC):c.1706A>G (p.His569Arg)	PTPRC (H408R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311506	NM_002838.5(PTPRC):c.185C>T (p.Thr62Ile)	PTPRC (T62I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3149319	NM_002838.5(PTPRC):c.479C>T (p.Thr160Ile)	PTPRC (T160I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3149318	NM_002838.5(PTPRC):c.3770A>G (p.Gln1257Arg)	PTPRC (Q1096R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149317	NM_002838.5(PTPRC):c.3512A>C (p.Asp1171Ala)	PTPRC (D1010A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149315	NM_002838.5(PTPRC):c.3305G>A (p.Arg1102His)	PTPRC (R1102H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149314	NM_002838.5(PTPRC):c.3000T>G (p.Asp1000Glu)	PTPRC (D1000E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149312	NM_002838.5(PTPRC):c.2763T>A (p.Asn921Lys)	PTPRC (N760K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149311	NM_002838.5(PTPRC):c.2603C>T (p.Ala868Val)	PTPRC (A707V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149310	NM_002838.5(PTPRC):c.1776A>G (p.Ile592Met)	PTPRC (I431M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149309	NM_002838.5(PTPRC):c.1708C>T (p.His570Tyr)	PTPRC (H409Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149308	NM_002838.5(PTPRC):c.1306A>G (p.Asn436Asp)	PTPRC (N275D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 3051600	NM_002838.5(PTPRC):c.4_7dup	PTPRC	Duplication (3 prime UTR variant)	PTPRC-related disorder	GLikely benign
Select item 3023720	NM_002838.5(PTPRC):c.73+11G>A	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3023594	NM_002838.5(PTPRC):c.1602T>C (p.His534=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3021766	NM_002838.5(PTPRC):c.2848-4_2848-3insTC	PTPRC	Insertion (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3021246	NM_002838.5(PTPRC):c.2439C>T (p.His813=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3020365	NM_002838.5(PTPRC):c.904+15A>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3019224	NM_002838.5(PTPRC):c.834T>C (p.Asn278=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3018776	NM_002838.5(PTPRC):c.2625C>A (p.Ala875=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3018486	NM_002838.5(PTPRC):c.2676A>G (p.Arg892=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3018380	NM_002838.5(PTPRC):c.2404-4C>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3018187	NM_002838.5(PTPRC):c.1770A>C (p.Thr590=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3017406	NM_002838.5(PTPRC):c.2848-8_2848-7insG	PTPRC	Insertion (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3016401	NM_002838.5(PTPRC):c.2514G>A (p.Val838=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3015656	NM_002838.5(PTPRC):c.789T>C (p.Asn263=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3015555	NM_002838.5(PTPRC):c.1083C>G (p.Pro361=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3015275	NM_002838.5(PTPRC):c.3646-4C>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3013861	NM_002838.5(PTPRC):c.3915T>G (p.Gly1305=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GBenign
Select item 3012620	NM_002838.5(PTPRC):c.1975-13T>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3011903	NM_002838.5(PTPRC):c.2562-15T>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3010738	NM_002838.5(PTPRC):c.2235C>T (p.Ala745=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3010148	NM_002838.5(PTPRC):c.2247C>T (p.Val749=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3009578	NM_002838.5(PTPRC):c.615T>G (p.Thr205=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3009555	NM_002838.5(PTPRC):c.3646-14_3646-11dup	PTPRC	Duplication (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3008820	NM_002838.5(PTPRC):c.3348T>G (p.Thr1116=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3008769	NM_002838.5(PTPRC):c.3072+16G>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3008361	NM_002838.5(PTPRC):c.2142+14T>A	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3007726	NM_002838.5(PTPRC):c.141T>C (p.Ser47=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 3006912	NM_002838.5(PTPRC):c.659-18T>A	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3006740	NM_002838.5(PTPRC):c.3208-15T>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3006114	NM_002838.5(PTPRC):c.686-19A>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3005671	NM_002838.5(PTPRC):c.2643T>C (p.Val881=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3005273	NM_002838.5(PTPRC):c.2939-4A>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3004554	NM_002838.5(PTPRC):c.2769T>C (p.Ser923=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3004100	NM_002838.5(PTPRC):c.2066-16T>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3002925	NM_002838.5(PTPRC):c.73+13A>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3002916	NM_002838.5(PTPRC):c.658+16G>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3002074	NM_002838.5(PTPRC):c.2100C>T (p.Asn700=)	PTPRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3001379	NM_002838.5(PTPRC):c.3309C>T (p.Val1103=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2999572	NM_002838.5(PTPRC):c.3073-19C>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2999160	NM_002838.5(PTPRC):c.3330+8A>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2997268	NM_002838.5(PTPRC):c.3267C>T (p.Asp1089=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2996774	NM_002838.5(PTPRC):c.2938+20_2938+21dup	PTPRC	Duplication (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2995698	NM_002838.5(PTPRC):c.3509+18G>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2995366	NM_002838.5(PTPRC):c.1506T>C (p.His502=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2994607	NM_002838.5(PTPRC):c.3330+17G>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2993904	NM_002838.5(PTPRC):c.1386C>T (p.Tyr462=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2992707	NM_002838.5(PTPRC):c.1569A>G (p.Glu523=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2991395	NM_002838.5(PTPRC):c.73+19A>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2987885	NM_002838.5(PTPRC):c.2466C>T (p.His822=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2987703	NM_002838.5(PTPRC):c.1034-11C>A	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2987501	NM_002838.5(PTPRC):c.3219T>C (p.Ala1073=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2986920	NM_002838.5(PTPRC):c.3509+10A>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2986849	NM_002838.5(PTPRC):c.2781A>C (p.Pro927=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2986654	NM_002838.5(PTPRC):c.2142+8A>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2986230	NM_002838.5(PTPRC):c.1599G>T (p.Ser533=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2985322	NM_002838.5(PTPRC):c.2848-4T>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2985257	NM_002838.5(PTPRC):c.2180-12T>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2985042	NM_002838.5(PTPRC):c.1104C>T (p.Asp368=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2985016	NM_002838.5(PTPRC):c.686-6T>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2983749	NM_002838.5(PTPRC):c.583+20G>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2983508	NM_002838.5(PTPRC):c.439+10T>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2983245	NM_002838.5(PTPRC):c.2278-18T>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2982820	NM_002838.5(PTPRC):c.1721-20G>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2982346	NM_002838.5(PTPRC):c.2157C>G (p.Pro719=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2981838	NM_002838.5(PTPRC):c.576C>T (p.Asn192=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2979549	NM_002838.5(PTPRC):c.2616C>A (p.Gly872=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2979109	NM_002838.5(PTPRC):c.1033+8T>A	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2978082	NM_002838.5(PTPRC):c.2561+12G>A	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2977076	NM_002838.5(PTPRC):c.2278-9A>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2976405	NM_002838.5(PTPRC):c.440-10C>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2976222	NM_002838.5(PTPRC):c.717C>T (p.Tyr239=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2975439	NM_002838.5(PTPRC):c.429T>C (p.Asn143=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2974060	NM_002838.5(PTPRC):c.1830-10A>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2973185	NM_002838.5(PTPRC):c.2848-20_2848-19del	PTPRC	Deletion (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2970669	NM_002838.5(PTPRC):c.2637G>A (p.Val879=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2969581	NM_002838.5(PTPRC):c.2562-18T>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2969539	NM_002838.5(PTPRC):c.390C>T (p.Ser130=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2967958	NM_002838.5(PTPRC):c.3073-14T>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2967090	NM_002838.5(PTPRC):c.2193A>G (p.Glu731=)	PTPRC	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2966375	NM_002838.5(PTPRC):c.2697+12C>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2965798	NM_002838.5(PTPRC):c.2180-11T>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2965477	NM_002838.5(PTPRC):c.1975-20G>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign

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