Related gene-specific medical variations for Gene (Select 8772) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021032	NM_003824.4(FADD):c.286+15G>T	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 2971966	NM_003824.4(FADD):c.286+18_286+24del	FADD, LOC130006295	Deletion (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 2919766	NM_003824.4(FADD):c.286+12G>C	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 2916543	NM_003824.4(FADD):c.286+8C>T	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 2265599	NM_003824.4(FADD):c.265G>T (p.Gly89Trp)	FADD, LOC130006295 (G89W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229448	NM_003824.4(FADD):c.285A>C (p.Glu95Asp)	FADD, LOC130006295 (E95D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202014	NM_003824.4(FADD):c.264C>A (p.Ala88=)	FADD, LOC130006295	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2195032	NM_003824.4(FADD):c.286+9G>C	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 1924615	NM_003824.4(FADD):c.283G>A (p.Glu95Lys)	FADD, LOC130006295 (E95K)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1665610	NM_003824.4(FADD):c.286+20G>A	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 1582435	NM_003824.4(FADD):c.258G>A (p.Ala86=)	FADD, LOC130006295	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1285114	NM_003824.4(FADD):c.276T>G (p.Pro92=)	FADD, LOC130006295	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 954644	NM_003824.4(FADD):c.248A>G (p.Glu83Gly)	FADD, LOC130006295 (E83G)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance