"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CARD11"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133803	NM_032415.7(CARD11):c.3454G>A (p.Asp1152Asn)	CARD11 (D1152N)	Single nucleotide variant (missense variant)	BENTA disease +3 more	GLikely benign
Select item 935604	NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile)	CARD11 (V1128I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 871387	NM_032415.7(CARD11):c.2920C>T (p.Arg974Cys)	CARD11 (R974C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 973623	NM_032415.7(CARD11):c.2899C>T (p.Arg967Cys)	CARD11 (R967C)	Single nucleotide variant (missense variant)	Immunodeficiency 11b with atopic dermatitis +2 more	GConflicting classifications of pathogenicity
Select item 571975	NM_032415.7(CARD11):c.2735G>A (p.Arg912Gln)	CARD11 (R912Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1023980	NM_032415.7(CARD11):c.2239G>A (p.Val747Ile)	CARD11 (V747I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 133792	NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys)	CARD11 (R707C)	Single nucleotide variant (missense variant)	BENTA disease +3 more	GConflicting classifications of pathogenicity
Select item 1055950	NM_032415.7(CARD11):c.2063G>A (p.Arg688Gln)	CARD11 (R688Q)	Single nucleotide variant (missense variant)	Immunodeficiency 11b with atopic dermatitis +2 more	GUncertain significance
Select item 791707	NM_032415.7(CARD11):c.1923G>A (p.Arg641=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +3 more	GBenign/Likely benign