ClinVar for MedGen (Select 934735) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500111	NM_001079.4(ZAP70):c.939C>T (p.Ser313=)	ZAP70	Single nucleotide variant (synonymous variant)	Autoimmune disease, multisystem, infantile-onset, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1587005	NM_001079.4(ZAP70):c.732C>T (p.Asp244=)	ZAP70	Single nucleotide variant (synonymous variant)	ZAP70-related condition +3 more	GBenign/Likely benign
Select item 1033248	NM_001079.4(ZAP70):c.692C>T (p.Thr231Met)	ZAP70 (T231M)	Single nucleotide variant (missense variant)	Autoimmune disease, multisystem, infantile-onset, 2 +2 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 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 659011	NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe)	ZAP70 (L23F +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to ZAP70 deficiency +2 more	GUncertain significance
Select item 471240	NM_001079.4(ZAP70):c.1082+8C>T	ZAP70	Single nucleotide variant (intron variant)	Autoimmune disease, multisystem, infantile-onset, 2 +3 more	GConflicting classifications of pathogenicity
Select item 337637	NM_001079.4(ZAP70):c.1645A>G (p.Met549Val)	ZAP70 (M549V +1 more)	Single nucleotide variant (missense variant)	Autoimmune disease, multisystem, infantile-onset, 2 +3 more	GUncertain significance
Select item 222951	NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp)	ZAP70 (R192W)	Single nucleotide variant (missense variant)	Combined immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 222950	NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro)	ZAP70 (R360P +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency	GPathogenic