"SMARCAL1-related disorder"[Disease/phenotype] AND "PreventionGenetics - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032866	NM_014140.4(SMARCAL1):c.1A>G (p.Met1Val)	SMARCAL1 (M1V)	Single nucleotide variant (missense variant +1 more)	SMARCAL1-related disorder	GUncertain significance
Select item 1614007	NM_014140.4(SMARCAL1):c.123C>T (p.Ser41=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +1 more	GLikely benign
Select item 1167494	NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val)	SMARCAL1 (I42V)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GBenign/Likely benign
Select item 2145926	NM_014140.4(SMARCAL1):c.340C>T (p.Arg114Cys)	SMARCAL1 (R114C)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 260345	NM_014140.4(SMARCAL1):c.603G>C (p.Gly201=)	SMARCAL1	Single nucleotide variant (synonymous variant)	SMARCAL1-related disorder +1 more	GBenign/Likely benign
Select item 3058475	NM_014140.4(SMARCAL1):c.736G>A (p.Asp246Asn)	SMARCAL1 (D246N)	Single nucleotide variant (missense variant)	SMARCAL1-related disorder	GUncertain significance
Select item 334293	NM_014140.4(SMARCAL1):c.863-9C>G	SMARCAL1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 562358	NM_014140.4(SMARCAL1):c.863-2A>G	SMARCAL1	Single nucleotide variant (splice acceptor variant)	SMARCAL1-related disorder +1 more	GPathogenic
Select item 497994	NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 197797	NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp)	SMARCAL1 (G321D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1105286	NM_014140.4(SMARCAL1):c.1065G>A (p.Ala355=)	SMARCAL1	Single nucleotide variant (synonymous variant)	SMARCAL1-related disorder +1 more	GLikely benign
Select item 334294	NM_014140.4(SMARCAL1):c.1147+8G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 2047642	NM_014140.4(SMARCAL1):c.1159C>T (p.Arg387Cys)	SMARCAL1 (R387C)	Single nucleotide variant (missense variant)	SMARCAL1-related disorder +1 more	GLikely benign
Select item 334295	NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)	SMARCAL1 (T399M)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 532009	NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=)	SMARCAL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2630464	NM_014140.4(SMARCAL1):c.1225C>G (p.Leu409Val)	SMARCAL1 (L409V)	Single nucleotide variant (missense variant)	SMARCAL1-related disorder	GUncertain significance
Select item 283080	NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)	SMARCAL1 (D424V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 334299	NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr)	SMARCAL1 (A472T)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 754283	NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +1 more	GLikely benign
Select item 1418313	NM_014140.4(SMARCAL1):c.1727del (p.Ile576fs)	SMARCAL1 (I576fs)	Deletion (frameshift variant)	Schimke immuno-osseous dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 463146	NM_014140.4(SMARCAL1):c.1851+5G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 632064	NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)	SMARCAL1 (T705I)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 288121	NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=)	SMARCAL1	Single nucleotide variant (synonymous variant)	SMARCAL1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1115974	NM_014140.4(SMARCAL1):c.2454G>A (p.Val818=)	SMARCAL1	Single nucleotide variant (synonymous variant)	SMARCAL1-related disorder +1 more	GLikely benign
Select item 287872	NM_014140.4(SMARCAL1):c.2528+5G>C	SMARCAL1	Single nucleotide variant (intron variant)	SMARCAL1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1932656	NM_014140.4(SMARCAL1):c.2535G>C (p.Leu845=)	SMARCAL1	Single nucleotide variant (synonymous variant)	SMARCAL1-related disorder +1 more	GLikely benign
Select item 532007	NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln)	SMARCAL1 (K881Q)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 463149	NM_014140.4(SMARCAL1):c.2712G>A (p.Glu904=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +1 more	GLikely benign
Select item 282339	NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=)	SMARCAL1	Single nucleotide variant (synonymous variant)	SMARCAL1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1110288	NM_014140.4(SMARCAL1):c.2844C>T (p.Asp948=)	SMARCAL1	Single nucleotide variant (synonymous variant)	SMARCAL1-related disorder +1 more	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: 30