"SMARCB1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 840331	NM_003073.5(SMARCB1):c.67G>A (p.Gly23Ser)	SMARCB1 (G23S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2630806	NM_003073.5(SMARCB1):c.82A>G (p.Ile28Val)	SMARCB1 (I28V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 532978	NM_003073.5(SMARCB1):c.90C>T (p.Ser30=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 658087	NM_003073.5(SMARCB1):c.374C>G (p.Ala125Gly)	SMARCB1 (A116G +1 more)	Single nucleotide variant (missense variant)	SMARCB1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 416324	NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1029504	NM_003073.5(SMARCB1):c.487A>G (p.Thr163Ala)	SMARCB1 (T154A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 15 +1 more	GUncertain significance
Select item 41778	NM_003073.5(SMARCB1):c.500+24C>G	SMARCB1 (T166S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2652971	NM_003073.5(SMARCB1):c.500+40C>T	SMARCB1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3037799	NM_003073.5(SMARCB1):c.500+59G>A	SMARCB1	Single nucleotide variant (intron variant)	SMARCB1-related disorder	GLikely benign
Select item 486501	NM_003073.5(SMARCB1):c.510C>T (p.Asp170=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 589365	NM_003073.5(SMARCB1):c.537C>T (p.Asn179=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 410709	NM_003073.5(SMARCB1):c.712G>A (p.Ala238Thr)	SMARCB1 (A238T +3 more)	Single nucleotide variant (missense variant)	SMARCB1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 826985	NM_003073.5(SMARCB1):c.735C>T (p.Ile245=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1767450	NM_003073.5(SMARCB1):c.957G>A (p.Leu319=)	SMARCB1	Single nucleotide variant (synonymous variant)	SMARCB1-related disorder +2 more	GLikely benign
Select item 416323	NM_003073.5(SMARCB1):c.987-5C>T	SMARCB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 416330	NM_003073.5(SMARCB1):c.987C>T (p.Ser329=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2631196	NM_003073.5(SMARCB1):c.1084G>A (p.Glu362Lys)	SMARCB1 (E353K +3 more)	Single nucleotide variant (missense variant)	SMARCB1-related disorder	GUncertain significance
Select item 1586210	NM_003073.5(SMARCB1):c.1119-18T>C	SMARCB1	Single nucleotide variant (intron variant)	SMARCB1-related disorder +1 more	GLikely benign
Select item 281915	NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=)	SMARCB1	Single nucleotide variant (synonymous variant)	SMARCB1-related disorder +4 more	GBenign/Likely benign
Select item 3045036	NM_003073.5(SMARCB1):c.*83G>A	SMARCB1	Single nucleotide variant (3 prime UTR variant)	SMARCB1-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20