Related gene-specific medical variations for Gene (Select 841) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065576	NM_001372051.1(CASP8):c.320del (p.Gln107fs)	CASP8 (Q107fs +3 more)	Deletion (frameshift variant +2 more)	Lung cancer	GLikely pathogenic
Select item 2651816	NM_001228.5(CASP8):c.-26-8200T>G	CASP8, LOC128772255	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2439762	NM_001372051.1(CASP8):c.635C>G (p.Pro212Arg)	CASP8 (P109R +6 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1184344	NM_001228.5(CASP8):c.-26-6994T>C	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1029014	NM_001228.5(CASP8):c.-26-8118G>A	LOC129935411, CASP8 +1 more (D38N)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 973627	NM_001228.5(CASP8):c.-26-8138T>A	CASP8, LOC128772255 (V31E)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 973626	NM_001228.5(CASP8):c.-26-8157C>A	CASP8, LOC128772255 (P25T)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 973625	NM_001228.5(CASP8):c.-26-8094G>C	LOC129935411, CASP8 (G46R)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 870948	NM_001228.5(CASP8):c.-26-8076G>A	LOC129935411, CASP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 636921	NM_001372051.1(CASP8):c.803G>T (p.Gly268Val)	CASP8 (G268V +13 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 402493	NM_001228.5(CASP8):c.-26-8228T>C	CASP8, LOC128772255 (M1T)	Single nucleotide variant (missense variant +4 more)	not specified +1 more	GBenign
Select item 402492	NM_001228.5(CASP8):c.-26-8189A>G	LOC128772255, CASP8 (K14R)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GBenign