ClinVar for Gene (Select 7535) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354708	NM_001079.4(ZAP70):c.1611G>A (p.Gln537=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-related disorder	GLikely benign
Select item 3333790	NM_001079.4(ZAP70):c.1183A>C (p.Asn395His)	ZAP70 (N395H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191763	NM_001079.4(ZAP70):c.924G>A (p.Met308Ile)	ZAP70 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191762	NM_001079.4(ZAP70):c.913C>T (p.Pro305Ser)	ZAP70 (P305S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191760	NM_001079.4(ZAP70):c.1793A>G (p.Tyr598Cys)	ZAP70 (Y598C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191759	NM_001079.4(ZAP70):c.1774C>T (p.Arg592Cys)	ZAP70 (R285C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191758	NM_001079.4(ZAP70):c.152T>C (p.Val51Ala)	ZAP70 (V51A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029750	NM_001079.4(ZAP70):c.1083-13_1083-10dup	ZAP70	Duplication (intron variant)	ZAP70-related disorder	GLikely benign
Select item 3022062	NM_001079.4(ZAP70):c.890C>T (p.Ala297Val)	ZAP70 (A297V)	Single nucleotide variant (missense variant +1 more)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 3022012	NM_001079.4(ZAP70):c.1082+17C>A	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 3019186	NM_001079.4(ZAP70):c.889+20G>C	ZAP70	Single nucleotide variant (5 prime UTR variant +1 more)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 3015121	NM_001079.4(ZAP70):c.703-6C>T	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 3014245	NM_001079.4(ZAP70):c.17C>T (p.Ala6Val)	ZAP70 (A6V)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 3011481	NM_001079.4(ZAP70):c.576G>A (p.Arg192=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 3009244	NM_001079.4(ZAP70):c.1083-4G>T	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 3002229	NM_001079.4(ZAP70):c.1083-17G>A	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2995821	NM_001079.4(ZAP70):c.1764C>G (p.Thr588=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2980244	NM_001079.4(ZAP70):c.1290-9C>T	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2973338	NM_001079.4(ZAP70):c.1092C>A (p.Ile364=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2920598	NM_001079.4(ZAP70):c.936G>A (p.Thr312=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2918562	NM_001079.4(ZAP70):c.1290-20C>T	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2914419	NM_001079.4(ZAP70):c.1737-8C>A	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2906787	NM_001079.4(ZAP70):c.1736+5G>A	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 2902360	NM_001079.4(ZAP70):c.714T>C (p.Tyr238=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2887002	NM_001079.4(ZAP70):c.1736+20G>C	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2884486	NM_001079.4(ZAP70):c.1029A>G (p.Glu343=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2884342	NM_001079.4(ZAP70):c.966A>C (p.Pro322=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2883660	NM_001079.4(ZAP70):c.1227C>A (p.Ala409=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2882531	NM_001079.4(ZAP70):c.1736+19G>A	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2876551	NM_001079.4(ZAP70):c.1650C>T (p.Ala550=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2874686	NM_001079.4(ZAP70):c.81G>A (p.Ala27=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2870805	NM_001079.4(ZAP70):c.1179G>A (p.Leu393=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2870259	NM_001079.4(ZAP70):c.1624-15C>T	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2821288	NM_001079.4(ZAP70):c.890-8G>A	ZAP70	Single nucleotide variant (5 prime UTR variant +1 more)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2818616	NM_001079.4(ZAP70):c.804C>T (p.Pro268=)	ZAP70	Single nucleotide variant (synonymous variant +1 more)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2806452	NM_001079.4(ZAP70):c.563+13C>T	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2803661	NM_001079.4(ZAP70):c.318G>T (p.Ser106=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2797366	NM_001079.4(ZAP70):c.1082+10C>T	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2793644	NM_001079.4(ZAP70):c.1257C>T (p.Gly419=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2793640	NM_001079.4(ZAP70):c.597C>A (p.Ala199=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2791257	NM_001079.4(ZAP70):c.411C>T (p.Ala137=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2785151	NM_001079.4(ZAP70):c.636C>T (p.Leu212=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2782386	NM_001079.4(ZAP70):c.90G>A (p.Ala30=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2777083	NM_001079.4(ZAP70):c.264G>A (p.Ser88=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2771093	NM_001079.4(ZAP70):c.1839G>C (p.Lys613Asn)	ZAP70 (K613N +1 more)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 2769955	NM_001079.4(ZAP70):c.969G>A (p.Glu323=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2768450	NM_001079.4(ZAP70):c.1289+9C>G	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2767977	NM_001079.4(ZAP70):c.890-1_891del	ZAP70	Deletion (5 prime UTR variant +1 more)	ZAP70-Related Severe Combined Immunodeficiency	GLikely pathogenic
Select item 2757286	NM_001079.4(ZAP70):c.689A>T (p.Asp230Val)	ZAP70 (D230V)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 2755667	NM_001079.4(ZAP70):c.279G>A (p.Gly93=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2745505	NM_001079.4(ZAP70):c.1120_1135dup (p.Asp379fs)	ZAP70 (D72fs +1 more)	Duplication (frameshift variant)	ZAP70-Related Severe Combined Immunodeficiency	GPathogenic
Select item 2744596	NM_001079.4(ZAP70):c.276C>T (p.Asp92=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2742114	NM_001079.4(ZAP70):c.1398C>T (p.Asn466=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2741423	NM_001079.4(ZAP70):c.954C>T (p.Pro318=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2739123	NM_001079.4(ZAP70):c.1434C>T (p.Ser478=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2735795	NM_001079.4(ZAP70):c.324C>G (p.Leu108=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2730783	NM_001079.4(ZAP70):c.1083-18C>T	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2730023	NM_001079.4(ZAP70):c.1555C>T (p.Arg519Cys)	ZAP70 (R212C +1 more)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 2726548	NM_001079.4(ZAP70):c.573G>A (p.Pro191=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2719714	NM_001079.4(ZAP70):c.177T>C (p.Phe59=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2714528	NM_001079.4(ZAP70):c.882T>C (p.Pro294=)	ZAP70	Single nucleotide variant (synonymous variant +1 more)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2707385	NM_001079.4(ZAP70):c.791-17C>A	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2705376	NM_001079.4(ZAP70):c.330G>A (p.Pro110=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2697762	NM_001079.4(ZAP70):c.747C>A (p.Cys249Ter)	ZAP70 (C249*)	Single nucleotide variant (nonsense)	ZAP70-Related Severe Combined Immunodeficiency	GPathogenic
Select item 2695339	NM_001079.4(ZAP70):c.1103T>A (p.Ile368Asn)	ZAP70 (I61N +1 more)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 2688068	NC_000002.12:g.97741354G>T	ZAP70	Single nucleotide variant (genic downstream transcript variant)	not specified	GBenign
Select item 2685860	GRCh37/hg19 2q11.2(chr2:98165095-98974536)x3	ACTR1B, ANKRD36B +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2682740	NM_001079.4(ZAP70):c.197A>G (p.Asn66Ser)	ZAP70 (N66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651172	NM_001079.4(ZAP70):c.1317C>T (p.Ala439=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency +1 more	GLikely benign
Select item 2634430	NM_001079.4(ZAP70):c.1289G>A (p.Arg430Lys)	ZAP70 (R123K +1 more)	Single nucleotide variant (missense variant)	ZAP70-related disorder	GUncertain significance
Select item 2619558	NM_001079.4(ZAP70):c.479G>A (p.Arg160Gln)	ZAP70 (R160Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616641	NM_001079.4(ZAP70):c.1015A>G (p.Ile339Val)	ZAP70 (I339V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2549855	NM_001079.4(ZAP70):c.179C>T (p.Pro60Leu)	ZAP70 (P60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541715	NM_001079.4(ZAP70):c.37G>T (p.Gly13Cys)	ZAP70 (G13C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538791	NM_001079.4(ZAP70):c.1341G>T (p.Met447Ile)	ZAP70 (M447I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536927	NM_001079.4(ZAP70):c.1016T>A (p.Ile339Lys)	ZAP70 (I32K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501785	NM_001079.4(ZAP70):c.493del (p.His165fs)	ZAP70 (H165fs)	Deletion (frameshift variant)	Combined immunodeficiency due to ZAP70 deficiency	GPathogenic
Select item 2501549	NM_001079.4(ZAP70):c.563+93C>T	ZAP70	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2500111	NM_001079.4(ZAP70):c.939C>T (p.Ser313=)	ZAP70	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to ZAP70 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2423625	NC_000002.11:g.(?_98340500)_(98355961_?)dup	ZAP70	Duplication	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 2417973	NM_001079.4(ZAP70):c.1482+7C>G	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2415915	NM_001079.4(ZAP70):c.504G>C (p.Leu168=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2310714	NM_001079.4(ZAP70):c.377A>C (p.Tyr126Ser)	ZAP70 (Y126S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300422	NM_001079.4(ZAP70):c.1778T>C (p.Met593Thr)	ZAP70 (M286T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259035	NM_001079.4(ZAP70):c.761G>C (p.Cys254Ser)	ZAP70 (C254S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202032	NM_001079.4(ZAP70):c.380T>C (p.Val127Ala)	ZAP70 (V127A)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 2199656	NM_001079.4(ZAP70):c.1002C>T (p.Arg334=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2193720	NM_001079.4(ZAP70):c.1736+18G>A	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2193061	NM_001079.4(ZAP70):c.523C>G (p.Arg175Gly)	ZAP70 (R175G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180536	NM_001079.4(ZAP70):c.1707C>T (p.Tyr569=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2164741	NM_001079.4(ZAP70):c.1082+9G>A	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2157449	NM_001079.4(ZAP70):c.564-13C>T	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2149231	NM_001079.4(ZAP70):c.1479C>T (p.Tyr493=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2142673	NM_001079.4(ZAP70):c.702+12G>A	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2131351	NM_001079.4(ZAP70):c.403-11_403-10del	ZAP70	Microsatellite (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2129860	NM_001079.4(ZAP70):c.833C>T (p.Thr278Ile)	ZAP70 (T278I)	Single nucleotide variant (missense variant +1 more)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 2127484	NM_001079.4(ZAP70):c.1278G>A (p.Leu426=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2126963	NM_001079.4(ZAP70):c.1075A>T (p.Met359Leu)	ZAP70 (M359L +1 more)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance

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