"Institute for Clinical Genetics, University Hospital TU Dresden, Univ - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212239	NM_003072.5(SMARCA4):c.223-5C>T	SMARCA4	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 470333	NM_003072.5(SMARCA4):c.303G>T (p.Gly101=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 238359	NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln)	SMARCA4 (R359Q)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
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 408611	NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu)	SMARCA4 (P674L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 470283	NM_003072.5(SMARCA4):c.2123+7G>T	SMARCA4	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 238397	NM_003072.5(SMARCA4):c.2275-10G>A	SMARCA4	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 1040424	NM_003072.5(SMARCA4):c.2381C>T (p.Thr794Met)	SMARCA4 (T794M)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 212248	NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 1319308	NM_003072.5(SMARCA4):c.3168+11C>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1319307	NM_003072.5(SMARCA4):c.3382+14A>G	SMARCA4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1319306	NM_003072.5(SMARCA4):c.4171-29G>C	SMARCA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 537804	NM_003072.5(SMARCA4):c.4590G>A (p.Met1530Ile)	SMARCA4 (M1562I +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +2 more	GUncertain significance
Select item 238488	NM_003072.5(SMARCA4):c.4754G>T (p.Gly1585Val)	SMARCA4 (G1617V +5 more)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 1319305	NM_003072.5(SMARCA4):c.4769-13C>T	SMARCA4	Single nucleotide variant (intron variant)	not provided +2 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)	not provided +3 more	GConflicting classifications of pathogenicity