C4551967[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034139	NM_032415.7(CARD11):c.*4G>A	CARD11	Single nucleotide variant (3 prime UTR variant)	BENTA disease	GUncertain significance
Select item 858217	NM_032415.7(CARD11):c.3410A>T (p.Asp1137Val)	CARD11 (D1137V)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GConflicting classifications of pathogenicity
Select item 540971	NM_032415.7(CARD11):c.3303C>T (p.Arg1101=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +2 more	GConflicting classifications of pathogenicity
Select item 657734	NM_032415.7(CARD11):c.2875A>G (p.Ser959Gly)	CARD11 (S959G)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 1034140	NM_032415.7(CARD11):c.2269+18C>A	CARD11	Single nucleotide variant (intron variant)	BENTA disease	GUncertain significance
Select item 2148416	NM_032415.7(CARD11):c.2074G>C (p.Val692Leu)	CARD11 (V692L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 1030970	NM_032415.7(CARD11):c.2059G>A (p.Ala687Thr)	CARD11 (A687T)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GConflicting classifications of pathogenicity
Select item 957780	NM_032415.7(CARD11):c.583G>C (p.Val195Leu)	CARD11, CARD11-AS1 (V195L)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GConflicting classifications of pathogenicity

ClinVar