"GeneDx"[submitter] AND "ZAP70"[gene] - ClinVar

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Items: 42

	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 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 337620	NM_001079.4(ZAP70):c.-186C>A	ZAP70	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1226084	NM_001079.4(ZAP70):c.-101+81A>G	ZAP70	Single nucleotide variant (intron variant)	not specified +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 1229846	NM_001079.4(ZAP70):c.-21-115A>C	ZAP70	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 489150	NM_001079.4(ZAP70):c.117C>A (p.Cys39Ter)	ZAP70 (C39*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 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 137939	NM_001079.4(ZAP70):c.563+13C>G	ZAP70	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 2501549	NM_001079.4(ZAP70):c.563+93C>T	ZAP70	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426128	NM_001079.4(ZAP70):c.590C>T (p.Thr197Ile)	ZAP70 (T197I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 337631	NM_001079.4(ZAP70):c.672C>T (p.Pro224=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-Related Severe Combined Immunodeficiency +2 more	GBenign/Likely benign
Select item 1033248	NM_001079.4(ZAP70):c.692C>T (p.Thr231Met)	ZAP70 (T231M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1255313	NM_001079.4(ZAP70):c.889+43A>C	ZAP70	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1222519	NM_001079.4(ZAP70):c.889+288C>T	ZAP70	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 633449	NM_001079.4(ZAP70):c.890-16C>T	ZAP70	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 337634	NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)	ZAP70 (I342T +1 more)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency +3 more	GConflicting classifications of pathogenicity
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 +1 more	GUncertain significance
Select item 418647	NM_001079.4(ZAP70):c.1280del (p.Val427fs)	ZAP70 (V427fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1290310	NM_001079.4(ZAP70):c.1289+67T>C	ZAP70	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1232396	NM_001079.4(ZAP70):c.1290-89C>T	ZAP70	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 385950	NM_001079.4(ZAP70):c.1290-16T>C	ZAP70	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 389802	NM_001079.4(ZAP70):c.1467C>T (p.Asp489=)	ZAP70	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to ZAP70 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 137940	NM_001079.4(ZAP70):c.1482+11G>T	ZAP70	Single nucleotide variant (intron variant)	Combined immunodeficiency due to ZAP70 deficiency +3 more	GBenign
Select item 766795	NM_001079.4(ZAP70):c.1605C>T (p.Tyr535=)	ZAP70	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 896681	NM_001079.4(ZAP70):c.1624-12C>T	ZAP70	Single nucleotide variant (intron variant)	ZAP70-Related Severe Combined Immunodeficiency +2 more	GConflicting classifications of pathogenicity
Select item 137941	NM_001079.4(ZAP70):c.1677G>A (p.Glu559=)	ZAP70	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 418549	NM_001079.4(ZAP70):c.1679G>A (p.Cys560Tyr)	ZAP70 (C560Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1260244	NM_001079.4(ZAP70):c.1737-224C>G	ZAP70	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228641	NM_001079.4(ZAP70):c.1737-162_1737-161del	ZAP70	Deletion (intron variant)	not provided	GBenign
Select item 418550	NM_001079.4(ZAP70):c.1748G>A (p.Arg583His)	ZAP70 (R583H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1309445	NM_001079.4(ZAP70):c.1825G>A (p.Gly609Ser)	ZAP70 (G302S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 337640	NM_001079.4(ZAP70):c.*29G>A	ZAP70	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 337642	NM_001079.4(ZAP70):c.*289G>C	ZAP70	Single nucleotide variant (3 prime UTR variant)	Combined immunodeficiency due to ZAP70 deficiency +1 more	GBenign

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Items: 42