"Mendelics"[submitter] AND "CASP10"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801851	NM_032977.4(CASP10):c.-8+5G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GConflicting classifications of pathogenicity
Select item 801852	NM_032977.4(CASP10):c.325C>T (p.Arg109Ter)	CASP10 (R109*)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GUncertain significance
Select item 7768	NM_032977.4(CASP10):c.440T>C (p.Met147Thr)	CASP10 (M147T)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GUncertain significance
Select item 535760	NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs)	CASP10 (C334fs +2 more)	Deletion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A +2 more	GConflicting classifications of pathogenicity
Select item 643723	NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr)	CASP10 (A398T +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GConflicting classifications of pathogenicity
Select item 1685600	NM_032977.4(CASP10):c.1504del (p.Gln502fs)	CASP10 (Q435fs +2 more)	Deletion (frameshift variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GPathogenic

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