"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ZAP70"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 538567	NM_001079.4(ZAP70):c.7G>C (p.Asp3His)	ZAP70 (D3H)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 939012	NM_001079.4(ZAP70):c.16G>A (p.Ala6Thr)	ZAP70 (A6T)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
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 2004118	NM_001079.4(ZAP70):c.21C>G (p.His7Gln)	ZAP70 (H7Q)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1399829	NM_001079.4(ZAP70):c.25C>G (p.Pro9Ala)	ZAP70 (P9A)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1018967	NM_001079.4(ZAP70):c.37G>C (p.Gly13Arg)	ZAP70 (G13R)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1054721	NM_001079.4(ZAP70):c.46T>C (p.Ser16Pro)	ZAP70 (S16P)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 2061921	NM_001079.4(ZAP70):c.48G>C (p.Ser16=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2000754	NM_001079.4(ZAP70):c.48G>A (p.Ser16=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2060147	NM_001079.4(ZAP70):c.50G>T (p.Arg17Leu)	ZAP70 (R17L)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 646277	NM_001079.4(ZAP70):c.80C>A (p.Ala27Glu)	ZAP70 (A27E)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency +1 more	GUncertain significance
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 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 2107451	NM_001079.4(ZAP70):c.90G>T (p.Ala30=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 337626	NM_001079.4(ZAP70):c.105G>A (p.Leu35=)	ZAP70	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2099754	NM_001079.4(ZAP70):c.109C>A (p.Arg37Ser)	ZAP70 (R37S)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 659958	NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly)	ZAP70 (R37G)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 2030902	NM_001079.4(ZAP70):c.129G>C (p.Leu43=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 936101	NM_001079.4(ZAP70):c.133G>C (p.Gly45Arg)	ZAP70 (G45R)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 337627	NM_001079.4(ZAP70):c.156C>T (p.His52=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 1111580	NM_001079.4(ZAP70):c.162G>A (p.Val54=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1491531	NM_001079.4(ZAP70):c.169C>T (p.His57Tyr)	ZAP70 (H57Y)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
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 1085968	NM_001079.4(ZAP70):c.180C>T (p.Pro60=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1016930	NM_001079.4(ZAP70):c.185A>G (p.Glu62Gly)	ZAP70 (E62G)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 432335	NM_001079.4(ZAP70):c.192G>C (p.Gln64His)	ZAP70 (Q64H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1416285	NM_001079.4(ZAP70):c.202A>T (p.Thr68Ser)	ZAP70 (T68S)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 839560	NM_001079.4(ZAP70):c.203C>G (p.Thr68Ser)	ZAP70 (T68S)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 765071	NM_001079.4(ZAP70):c.216C>T (p.Ala72=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1505533	NM_001079.4(ZAP70):c.227C>T (p.Ala76Val)	ZAP70 (A76V)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 38914	NM_001079.4(ZAP70):c.239C>A (p.Pro80Gln)	ZAP70 (P80Q)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 954252	NM_001079.4(ZAP70):c.261C>G (p.Tyr87Ter)	ZAP70 (Y87*)	Single nucleotide variant (nonsense)	ZAP70-Related Severe Combined Immunodeficiency	GPathogenic
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 1102371	NM_001079.4(ZAP70):c.267C>T (p.Arg89=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
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 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 651969	NM_001079.4(ZAP70):c.302C>A (p.Pro101Gln)	ZAP70 (P101Q)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1064195	NM_001079.4(ZAP70):c.304T>G (p.Cys102Gly)	ZAP70 (C102G)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1144779	NM_001079.4(ZAP70):c.310C>A (p.Arg104=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1654907	NM_001079.4(ZAP70):c.315G>A (p.Pro105=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1484158	NM_001079.4(ZAP70):c.317C>G (p.Ser106Trp)	ZAP70 (S106W)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
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 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 1398656	NM_001079.4(ZAP70):c.328C>T (p.Pro110Ser)	ZAP70 (P110S)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
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 2055018	NM_001079.4(ZAP70):c.330G>C (p.Pro110=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1626371	NM_001079.4(ZAP70):c.336G>A (p.Pro112=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1116490	NM_001079.4(ZAP70):c.342C>T (p.Val114=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1665826	NM_001079.4(ZAP70):c.352C>T (p.Leu118=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1383773	NM_001079.4(ZAP70):c.366G>C (p.Met122Ile)	ZAP70 (M122I)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1635071	NM_001079.4(ZAP70):c.369G>A (p.Val123=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
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 1899049	NM_001079.4(ZAP70):c.402+4A>T	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1466173	NM_001079.4(ZAP70):c.402+6A>G	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1508562	NM_001079.4(ZAP70):c.402+20C>T	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 844991	NM_001079.4(ZAP70):c.403-3T>C	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency +1 more	GUncertain significance
Select item 2060836	NM_001079.4(ZAP70):c.406G>A (p.Glu136Lys)	ZAP70 (E136K)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
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 1393109	NM_001079.4(ZAP70):c.422C>G (p.Ala141Gly)	ZAP70 (A141G)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1107361	NM_001079.4(ZAP70):c.423C>T (p.Ala141=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1571892	NM_001079.4(ZAP70):c.435G>A (p.Gln145=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1059261	NM_001079.4(ZAP70):c.437C>T (p.Ala146Val)	ZAP70 (A146V)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency +1 more	GUncertain significance
Select item 1716121	NM_001079.4(ZAP70):c.444G>C (p.Gln148His)	ZAP70 (Q148H)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 337628	NM_001079.4(ZAP70):c.447G>A (p.Val149=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency +3 more	GBenign
Select item 538570	NM_001079.4(ZAP70):c.464C>T (p.Thr155Met)	ZAP70 (T155M)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GBenign
Select item 762280	NM_001079.4(ZAP70):c.468G>A (p.Thr156=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 939404	NM_001079.4(ZAP70):c.474C>G (p.His158Gln)	ZAP70 (H158Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 716835	NM_001079.4(ZAP70):c.474C>T (p.His158=)	ZAP70	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to ZAP70 deficiency +3 more	GBenign/Likely benign
Select item 1072344	NM_001079.4(ZAP70):c.475G>T (p.Glu159Ter)	ZAP70 (E159*)	Single nucleotide variant (nonsense)	ZAP70-Related Severe Combined Immunodeficiency	GPathogenic
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 2079407	NM_001079.4(ZAP70):c.506C>T (p.Thr169Met)	ZAP70 (T169M)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 898231	NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly)	ZAP70 (E171G)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency +2 more	GBenign/Likely benign
Select item 1485489	NM_001079.4(ZAP70):c.520G>A (p.Glu174Lys)	ZAP70 (E174K)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency +1 more	GUncertain significance
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 1392233	NM_001079.4(ZAP70):c.523C>T (p.Arg175Cys)	ZAP70 (R175C)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1085873	NM_001079.4(ZAP70):c.528A>G (p.Lys176=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 471242	NM_001079.4(ZAP70):c.531T>C (p.Leu177=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency +3 more	GBenign
Select item 1629071	NM_001079.4(ZAP70):c.537T>G (p.Ser179=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1157186	NM_001079.4(ZAP70):c.537T>C (p.Ser179=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 2082242	NM_001079.4(ZAP70):c.542C>G (p.Ala181Gly)	ZAP70 (A181G)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1587533	NM_001079.4(ZAP70):c.543G>A (p.Ala181=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1598259	NM_001079.4(ZAP70):c.549C>T (p.Thr183=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1373043	NM_001079.4(ZAP70):c.550G>A (p.Asp184Asn)	ZAP70 (D184N)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 856712	NM_001079.4(ZAP70):c.553G>A (p.Gly185Ser)	ZAP70 (G185S)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1590628	NM_001079.4(ZAP70):c.558G>A (p.Lys186=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1022756	NM_001079.4(ZAP70):c.563+4T>G	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 1642483	NM_001079.4(ZAP70):c.563+8G>T	ZAP70	Single nucleotide variant (intron variant)	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 137939	NM_001079.4(ZAP70):c.563+13C>G	ZAP70	Single nucleotide variant (intron variant)	Combined immunodeficiency due to ZAP70 deficiency +3 more	GBenign
Select item 1112923	NM_001079.4(ZAP70):c.564-19C>T	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 836350	NM_001079.4(ZAP70):c.565C>T (p.Leu189=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 1489706	NM_001079.4(ZAP70):c.572C>T (p.Pro191Leu)	ZAP70 (P191L)	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 755303	NM_001079.4(ZAP70):c.573G>C (p.Pro191=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 222951	NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp)	ZAP70 (R192W)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency +1 more	GConflicting classifications of pathogenicity
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 1023230	NM_001079.4(ZAP70):c.591A>G (p.Thr197=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign
Select item 538575	NM_001079.4(ZAP70):c.594C>T (p.Tyr198=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency	GLikely benign

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