C3553249[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 470373	NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln)	SMARCA4 (R13Q)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 470224	NM_003072.5(SMARCA4):c.104C>T (p.Ser35Leu)	SMARCA4 (S35L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 220638	NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg)	SMARCA4 (G148R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 484868	NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln)	SMARCA4 (R569Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 470256	NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del)	SMARCA4 (K588del)	Microsatellite (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2433576	NM_003072.5(SMARCA4):c.2506-2A>G	SMARCA4	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 30343	NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)	SMARCA4 (T859M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 408606	NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His)	SMARCA4 (R1244H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +1 more	GUncertain significance
Select item 408620	NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met)	SMARCA4 (T1264M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 220887	NM_001387283.1(SMARCA4):c.4187A>T (p.Asp1396Val)	SMARCA4 (D1396V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
Select item 842386	NM_003072.5(SMARCA4):c.4171-1789C>T	SMARCA4 (Q1411*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 16 +1 more	GConflicting classifications of pathogenicity
Select item 408697	NM_003072.5(SMARCA4):c.4258G>A (p.Gly1420Ser)	SMARCA4 (G1452S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 238483	NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu)	SMARCA4 (V1592L +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GConflicting classifications of pathogenicity
Select item 238493	NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)	SMARCA4 (G1644S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 238503	NM_003072.5(SMARCA4):c.4916G>A (p.Arg1639His)	SMARCA4 (R1671H +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity