Related gene-specific medical variations for Gene (Select 843) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247314	NC_000002.11:g.(?_202050501)_(202082464_?)dup	CASP10	Duplication	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3247313	NC_000002.11:g.(?_202070585)_(202070716_?)del	CASP10	Deletion	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1319414	NM_032977.4(CASP10):c.526A>C (p.Thr176Pro)	CASP10 (T176P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591894	NM_032977.4(CASP10):c.927_928del (p.Leu310fs)	CASP10 (L267fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 591256	NM_032977.4(CASP10):c.604_605insGTGTCACG (p.Asp202fs)	CASP10 (D202fs)	Insertion (frameshift variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 548575	NM_032977.4(CASP10):c.422C>A (p.Ser141Ter)	CASP10 (S141*)	Single nucleotide variant (nonsense)	Neoplasm of stomach	GUncertain significance

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