"ITMI"[submitter] AND "SMARCA4"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135246	NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr)	SMARCA4 (A26T)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 135251	NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser)	SMARCA4 (P197S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +5 more	GBenign
Select item 135250	NM_003072.5(SMARCA4):c.602A>T (p.Gln201Leu)	SMARCA4 (Q201L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 238517	NM_003072.5(SMARCA4):c.722_733del (p.229GP[6])	SMARCA4	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 135252	NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu)	SMARCA4 (P244L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 126355	NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)	SMARCA4 (Y372H)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +5 more	GBenign
Select item 135247	NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val)	SMARCA4 (L639V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GUncertain significance
Select item 133382	NM_003072.5(SMARCA4):c.2617-224T>C	SMARCA4	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	Gnot provided
Select item 133383	NM_003072.5(SMARCA4):c.2617-110G>A	SMARCA4	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133384	NM_003072.5(SMARCA4):c.2617-86G>A	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign
Select item 133385	NM_003072.5(SMARCA4):c.3546+16G>A	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GLikely benign
Select item 135254	NM_003072.5(SMARCA4):c.3841G>A (p.Val1281Ile)	SMARCA4 (V1281I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 135256	NM_001387283.1(SMARCA4):c.4211T>G (p.Val1404Gly)	SMARCA4 (V1404G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 135255	NM_001387283.1(SMARCA4):c.4216C>T (p.Arg1406Cys)	SMARCA4 (R1406C)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 135248	NM_003072.5(SMARCA4):c.4291C>T (p.Arg1431Cys)	SMARCA4 (R1431C +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135253	NM_003072.5(SMARCA4):c.4546A>G (p.Asn1516Asp)	SMARCA4 (N1516D +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 133386	NM_003072.5(SMARCA4):c.*1G>T	SMARCA4	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GBenign