"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328019	NM_003072.5(SMARCA4):c.222+14T>C	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +5 more	GBenign/Likely benign
Select item 380632	NM_003072.5(SMARCA4):c.222+18C>T	SMARCA4	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 377351	NM_003072.5(SMARCA4):c.400G>T (p.Val134Phe)	SMARCA4 (V134F)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 238375	NM_003072.5(SMARCA4):c.1419+9C>T	SMARCA4	Single nucleotide variant (intron variant)	Coffin-Siris syndrome +5 more	GBenign/Likely benign
Select item 445485	NM_003072.5(SMARCA4):c.2002-19T>C	SMARCA4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 212240	NM_003072.5(SMARCA4):c.2275-3C>A	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +5 more	GConflicting classifications of pathogenicity
Select item 380708	NM_003072.5(SMARCA4):c.4170+17C>T	SMARCA4	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 328041	NM_003072.5(SMARCA4):c.4635+12G>A	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +5 more	GBenign/Likely benign
Select item 238485	NM_003072.5(SMARCA4):c.4724G>A (p.Ser1575Asn)	SMARCA4 (S1607N +5 more)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity