PTPRC[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 60079	GRCh38/hg38 1q31.3-32.1(chr1:198608514-199646718)x1	LINC01221, LINC01222 +20 more	Copy number loss	See cases	GPathogenic
Select item 1049452	NC_000001.11:g.198634168C>T	PTPRC	Single nucleotide variant	not provided	GUncertain significance
Select item 1201379	NC_000001.11:g.198638880T>A	PTPRC	Single nucleotide variant	not provided	GLikely benign
Select item 1212714	NC_000001.11:g.198638984C>T	PTPRC	Single nucleotide variant	not provided	GLikely benign
Select item 1471102	NM_002838.5(PTPRC):c.3G>T (p.Met1Ile)	PTPRC (M1I)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 104 +1 more	GUncertain significance
Select item 2872770	NM_002838.5(PTPRC):c.6C>T (p.Thr2=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 1467707	NM_002838.5(PTPRC):c.9G>C (p.Met3Ile)	PTPRC (M3I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 1411417	NM_002838.5(PTPRC):c.16T>A (p.Trp6Arg)	PTPRC (W6R)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 953411	NM_002838.5(PTPRC):c.24A>G (p.Lys8=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 706629	NM_002838.5(PTPRC):c.39C>T (p.Gly13=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GBenign
Select item 843628	NM_002838.5(PTPRC):c.52G>A (p.Asp18Asn)	PTPRC (D18N)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 1129793	NM_002838.5(PTPRC):c.57A>C (p.Thr19=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2766425	NM_002838.5(PTPRC):c.73+1G>A	PTPRC	Single nucleotide variant (splice donor variant)	Immunodeficiency 104	GLikely pathogenic
Select item 2906876	NM_002838.5(PTPRC):c.73+8C>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2918542	NM_002838.5(PTPRC):c.73+9A>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	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 3002925	NM_002838.5(PTPRC):c.73+13A>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2899733	NM_002838.5(PTPRC):c.73+18A>G	PTPRC	Single nucleotide variant (intron 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 150822	GRCh38/hg38 1q31.3-32.1(chr1:198655911-198899227)x1	LOC108281163, LOC126805968 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1287966	NM_002838.5(PTPRC):c.74-270T>G	PTPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1677216	NM_002838.5(PTPRC):c.100+1del	PTPRC	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1279911	NM_002838.5(PTPRC):c.100+1403A>G	PTPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277649	NM_002838.5(PTPRC):c.100+1844G>A	PTPRC	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1197008	NM_002838.5(PTPRC):c.100+2020C>T	PTPRC	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1189234	NM_002838.5(PTPRC):c.101-194T>C	PTPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178573	NM_002838.5(PTPRC):c.101-142A>G	PTPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2128110	NM_002838.5(PTPRC):c.101-20C>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 1563653	NM_002838.5(PTPRC):c.101-15dup	PTPRC	Duplication (intron variant)	Immunodeficiency 104	GBenign
Select item 1542400	NM_002838.5(PTPRC):c.101-19A>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2753826	NM_002838.5(PTPRC):c.101-12A>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2755962	NM_002838.5(PTPRC):c.101-9A>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 1403070	NM_002838.5(PTPRC):c.101-3C>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GUncertain significance
Select item 2019209	NM_002838.5(PTPRC):c.111A>G (p.Thr37=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 763290	NM_002838.5(PTPRC):c.114A>G (p.Ala38=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 661112	NM_002838.5(PTPRC):c.120G>C (p.Met40Ile)	PTPRC (M40I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2899200	NM_002838.5(PTPRC):c.123C>T (p.Pro41=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2717311	NM_002838.5(PTPRC):c.123C>G (p.Pro41=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 646998	NM_002838.5(PTPRC):c.125G>T (p.Ser42Ile)	PTPRC (S42I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 391024	NM_002838.5(PTPRC):c.132A>G (p.Pro44=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	PTPRC-related disorder +2 more	GBenign/Likely benign
Select item 1037141	NM_002838.5(PTPRC):c.139A>G (p.Ser47Gly)	PTPRC (S47G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1352680	NM_002838.5(PTPRC):c.145C>A (p.Pro49Thr)	PTPRC (P49T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2782631	NM_002838.5(PTPRC):c.150A>G (p.Leu50=)	PTPRC	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2704484	NM_002838.5(PTPRC):c.153T>A (p.Pro51=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 533075	NM_002838.5(PTPRC):c.154A>G (p.Thr52Ala)	PTPRC (T52A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2803853	NM_002838.5(PTPRC):c.162C>T (p.Thr54=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 771655	NM_002838.5(PTPRC):c.177C>T (p.Pro59=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 378444	NM_002838.5(PTPRC):c.177C>G (p.Pro59=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104 +3 more	GBenign/Likely benign
Select item 1044126	NM_002838.5(PTPRC):c.178G>A (p.Ala60Thr)	PTPRC (A60T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 1617937	NM_002838.5(PTPRC):c.180A>G (p.Ala60=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 636359	NM_002838.5(PTPRC):c.190G>A (p.Glu64Lys)	PTPRC (E64K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2876735	NM_002838.5(PTPRC):c.196G>T (p.Glu66Ter)	PTPRC (E66*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 104	GPathogenic
Select item 1026840	NM_002838.5(PTPRC):c.196G>A (p.Glu66Lys)	PTPRC (E66K)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2103564	NM_002838.5(PTPRC):c.216C>T (p.Thr72=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 1063547	NM_002838.5(PTPRC):c.226C>G (p.Leu76Val)	PTPRC (L76V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2311719	NM_002838.5(PTPRC):c.229A>T (p.Ser77Cys)	PTPRC (S77C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1020039	NM_002838.5(PTPRC):c.232C>T (p.Pro78Ser)	PTPRC (P78S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2069358	NM_002838.5(PTPRC):c.238A>C (p.Asn80His)	PTPRC (N80H)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2159338	NM_002838.5(PTPRC):c.242C>T (p.Thr81Ile)	PTPRC (T81I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 1384148	NM_002838.5(PTPRC):c.248C>T (p.Thr83Ile)	PTPRC (T83I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104 +2 more	GUncertain significance
Select item 2819493	NM_002838.5(PTPRC):c.249C>T (p.Thr83=)	PTPRC	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2868091	NM_002838.5(PTPRC):c.260del (p.Pro87fs)	PTPRC (P87fs)	Deletion (frameshift variant +1 more)	Immunodeficiency 104	GPathogenic
Select item 573532	NM_002838.5(PTPRC):c.260C>T (p.Pro87Leu)	PTPRC (P87L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 863862	NM_002838.5(PTPRC):c.261G>A (p.Pro87=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 1382121	NM_002838.5(PTPRC):c.274A>G (p.Asn92Asp)	PTPRC (N92D)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104 +1 more	GUncertain significance
Select item 1548905	NM_002838.5(PTPRC):c.279T>C (p.Ala93=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2157444	NM_002838.5(PTPRC):c.281G>A (p.Ser94Asn)	PTPRC (S94N)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 1714363	NM_002838.5(PTPRC):c.286T>G (p.Phe96Val)	PTPRC (F96V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2738889	NM_002838.5(PTPRC):c.288T>C (p.Phe96=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2890289	NM_002838.5(PTPRC):c.294C>G (p.Thr98=)	PTPRC	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2752255	NM_002838.5(PTPRC):c.298+7A>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2879265	NM_002838.5(PTPRC):c.298+14del	PTPRC	Deletion (intron variant)	Immunodeficiency 104	GBenign
Select item 2890309	NM_002838.5(PTPRC):c.298+12A>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2873545	NM_002838.5(PTPRC):c.298+15G>A	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2876974	NM_002838.5(PTPRC):c.298+23_298+27del	PTPRC	Deletion (intron variant)	Immunodeficiency 104	GLikely benign
Select item 1619901	NM_002838.5(PTPRC):c.298+20T>A	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 1250478	NM_002838.5(PTPRC):c.298+194A>G	PTPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2790291	NM_002838.5(PTPRC):c.299-20A>G	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 1906547	NM_002838.5(PTPRC):c.299-20A>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2846762	NM_002838.5(PTPRC):c.299-18C>A	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2855975	NM_002838.5(PTPRC):c.299-17T>C	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 1661417	NM_002838.5(PTPRC):c.299-14C>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2815897	NM_002838.5(PTPRC):c.299-10C>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2802523	NM_002838.5(PTPRC):c.299-9C>T	PTPRC	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2820976	NM_002838.5(PTPRC):c.303T>G (p.Val101=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 1460093	NM_002838.5(PTPRC):c.308C>G (p.Ser103Ter)	PTPRC (S103*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 104	GPathogenic
Select item 839888	NM_002838.5(PTPRC):c.310G>A (p.Val104Ile)	PTPRC (V104I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 1429472	NM_002838.5(PTPRC):c.311T>C (p.Val104Ala)	PTPRC (V104A)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2743723	NM_002838.5(PTPRC):c.318G>T (p.Thr106=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2272217	NM_002838.5(PTPRC):c.323A>C (p.His108Pro)	PTPRC (H108P)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104 +1 more	GUncertain significance
Select item 654019	NM_002838.5(PTPRC):c.337G>T (p.Ala113Ser)	PTPRC (A113S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 1627689	NM_002838.5(PTPRC):c.339A>G (p.Ala113=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2910985	NM_002838.5(PTPRC):c.342C>T (p.Asp114=)	PTPRC	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 642812	NM_002838.5(PTPRC):c.347A>C (p.Gln116Pro)	PTPRC (Q116P)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104 +2 more	GUncertain significance
Select item 1653703	NM_002838.5(PTPRC):c.351G>A (p.Thr117=)	PTPRC	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 533058	NM_002838.5(PTPRC):c.352C>A (p.Pro118Thr)	PTPRC (P118T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance

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