"Illumina Laboratory Services, Illumina"[submitter] AND "SMARCAL1"[gen - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 898338	NM_014140.3(SMARCAL1):c.-316T>C	LOC112806077, SMARCAL1	Single nucleotide variant	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 895358	NM_014140.3(SMARCAL1):c.-300G>C	LOC112806077, SMARCAL1	Single nucleotide variant	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 895359	NM_014140.3(SMARCAL1):c.-262C>G	LOC112806077, SMARCAL1	Single nucleotide variant	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334280	NM_014140.4(SMARCAL1):c.-218C>T	LOC112806077, SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GBenign
Select item 334281	NM_014140.4(SMARCAL1):c.-200G>A	LOC112806077, SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 334282	NM_014140.4(SMARCAL1):c.-170C>T	SMARCAL1, LOC112806077	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334283	NM_014140.4(SMARCAL1):c.-164G>A	LOC112806077, SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334284	NM_014140.4(SMARCAL1):c.-141G>A	SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334285	NM_014140.4(SMARCAL1):c.-137A>G	SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 334286	NM_014140.4(SMARCAL1):c.-114G>A	SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334287	NM_014140.4(SMARCAL1):c.-82T>C	SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334288	NM_014140.4(SMARCAL1):c.-48C>A	SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334289	NM_014140.4(SMARCAL1):c.72A>G (p.Arg24=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GBenign/Likely benign
Select item 334290	NM_014140.4(SMARCAL1):c.76G>A (p.Glu26Lys)	SMARCAL1 (E26K)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 260337	NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr)	SMARCAL1 (A43T)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +2 more	GBenign/Likely benign
Select item 196456	NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His)	SMARCAL1 (R114H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 260344	NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=)	SMARCAL1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 897245	NM_014140.4(SMARCAL1):c.532G>T (p.Ala178Ser)	SMARCAL1 (A178S)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334291	NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 897246	NM_014140.4(SMARCAL1):c.693A>C (p.Gln231His)	SMARCAL1 (Q231H)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 897247	NM_014140.4(SMARCAL1):c.748G>C (p.Val250Leu)	SMARCAL1 (V250L)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334292	NM_014140.4(SMARCAL1):c.812-15T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
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 897248	NM_014140.4(SMARCAL1):c.863-4G>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 260347	NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala)	SMARCAL1 (P301A)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +2 more	GBenign/Likely benign
Select item 497994	NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)	SMARCAL1	Single nucleotide variant (synonymous variant)	SMARCAL1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 197799	NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg)	SMARCAL1 (S315R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 197798	NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 898422	NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)	SMARCAL1 (G321S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 198202	NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln)	SMARCAL1 (E377Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 334294	NM_014140.4(SMARCAL1):c.1147+8G>A	SMARCAL1	Single nucleotide variant (intron variant)	SMARCAL1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 898423	NM_014140.4(SMARCAL1):c.1160G>A (p.Arg387His)	SMARCAL1 (R387H)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
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 463145	NM_014140.4(SMARCAL1):c.1243A>G (p.Ser415Gly)	SMARCAL1 (S415G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 334296	NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 283080	NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)	SMARCAL1 (D424V)	Single nucleotide variant (missense variant)	Kidney disorder +4 more	GConflicting classifications of pathogenicity
Select item 334297	NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 334298	NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 334299	NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr)	SMARCAL1 (A472T)	Single nucleotide variant (missense variant)	SMARCAL1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 839865	NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His)	SMARCAL1 (R490H)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334300	NM_014140.4(SMARCAL1):c.1485+8G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 725521	NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 755641	NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 260339	NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +3 more	GBenign/Likely benign
Select item 260340	NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +1 more	GBenign/Likely benign
Select item 260341	NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +2 more	GBenign
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 463147	NM_014140.4(SMARCAL1):c.2225C>T (p.Thr742Met)	SMARCAL1 (T742M)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GUncertain significance
Select item 260343	NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +1 more	GBenign/Likely benign
Select item 896828	NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 897326	NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 334301	NM_014140.4(SMARCAL1):c.2528+15G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 4171	NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	SMARCAL1 (E848*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic
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 632346	NM_014140.4(SMARCAL1):c.2658_2659delinsTT (p.Gln887Ter)	SMARCAL1 (Q887*)	Indel (nonsense)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334302	NM_014140.4(SMARCAL1):c.*13G>T	SMARCAL1	Single nucleotide variant (3 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334303	NM_014140.4(SMARCAL1):c.*30T>G	SMARCAL1	Single nucleotide variant (3 prime UTR variant)	Schimke immuno-osseous dysplasia	GLikely benign

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Items: 58