ZAP70[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 155611	GRCh38/hg38 2q11.2(chr2:97422165-98203456)x3	ACTR1B, ANKRD36B +32 more	Copy number gain	See cases	GLikely benign
Select item 58877	GRCh38/hg38 2q11.2(chr2:97634165-97841153)x3	ACTR1B, C2orf92 +13 more	Copy number gain	See cases	GUncertain significance
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 895190	NM_001079.3(ZAP70):c.-217G>A	ZAP70	Single nucleotide variant (genic upstream transcript variant)	Combined immunodeficiency due to ZAP70 deficiency	GUncertain significance
Select item 337620	NM_001079.4(ZAP70):c.-186C>A	ZAP70	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 337621	NM_001079.4(ZAP70):c.-177C>A	ZAP70	Single nucleotide variant (5 prime UTR variant)	Combined immunodeficiency due to ZAP70 deficiency	GLikely benign
Select item 337622	NM_001079.4(ZAP70):c.-133C>T	ZAP70	Single nucleotide variant (5 prime UTR variant)	Combined immunodeficiency due to ZAP70 deficiency	GUncertain significance
Select item 1226084	NM_001079.4(ZAP70):c.-101+81A>G	ZAP70	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1302752	NM_001079.4(ZAP70):c.-100-100_-100-93del	ZAP70	Deletion (intron variant)	not provided	GBenign
Select item 517870	NM_001079.4(ZAP70):c.-100-14G>A	ZAP70	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 337623	NM_001079.4(ZAP70):c.-91T>A	ZAP70	Single nucleotide variant (5 prime UTR variant)	Combined immunodeficiency due to ZAP70 deficiency	GBenign
Select item 337624	NM_001079.4(ZAP70):c.-81T>G	ZAP70	Single nucleotide variant (5 prime UTR variant)	Severe combined immunodeficiency disease	GUncertain significance
Select item 337625	NM_001079.4(ZAP70):c.-59T>C	ZAP70	Single nucleotide variant (5 prime UTR variant)	Combined immunodeficiency due to ZAP70 deficiency	GBenign
Select item 1229846	NM_001079.4(ZAP70):c.-21-115A>C	ZAP70	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 591676	NM_001079.4(ZAP70):c.3G>T (p.Met1Ile)	ZAP70 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2541715	NM_001079.4(ZAP70):c.37G>T (p.Gly13Cys)	ZAP70 (G13C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	ZAP70-Related Severe Combined Immunodeficiency +2 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 489150	NM_001079.4(ZAP70):c.117C>A (p.Cys39Ter)	ZAP70 (C39*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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)	Combined immunodeficiency due to ZAP70 deficiency +2 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 2549855	NM_001079.4(ZAP70):c.179C>T (p.Pro60Leu)	ZAP70 (P60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 +1 more	GUncertain significance
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 896604	NM_001079.4(ZAP70):c.199G>T (p.Gly67Cys)	ZAP70 (G67C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to ZAP70 deficiency	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 827753	NM_001079.4(ZAP70):c.283C>T (p.Pro95Ser)	ZAP70 (P95S)	Single nucleotide variant (missense variant)	Combined immunodeficiency	GPathogenic
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 1696165	NM_001079.4(ZAP70):c.329C>T (p.Pro110Leu)	ZAP70 (P110L)	Single nucleotide variant (missense variant)	not specified	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 633023	NM_001079.4(ZAP70):c.360C>T (p.Asp120=)	ZAP70	Single nucleotide variant (synonymous variant)	not specified	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 2310714	NM_001079.4(ZAP70):c.377A>C (p.Tyr126Ser)	ZAP70 (Y126S)	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 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 1329584	NM_001079.4(ZAP70):c.402+219A>G	ZAP70	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269303	NM_001079.4(ZAP70):c.402+294C>T	ZAP70	Single nucleotide variant (intron variant)	not provided	GBenign
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)	Combined immunodeficiency due to ZAP70 deficiency +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 1028508	NM_001079.4(ZAP70):c.440C>T (p.Pro147Leu)	ZAP70 (P147L)	Single nucleotide variant (missense variant)	Autoimmune disease, multisystem, infantile-onset, 2	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 +2 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 898230	NM_001079.4(ZAP70):c.467C>G (p.Thr156Arg)	ZAP70 (T156R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to ZAP70 deficiency	GUncertain significance
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)	ZAP70-Related Severe Combined Immunodeficiency +1 more	GUncertain significance

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