"GeneDx"[submitter] AND "SMARCAL1"[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 3367274	NM_014140.4(SMARCAL1):c.-59+1G>T	SMARCAL1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1287616	NM_014140.4(SMARCAL1):c.-58-254G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259167	NM_014140.4(SMARCAL1):c.-58-210G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
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 provided +3 more	GBenign/Likely benign
Select item 1259419	NM_014140.4(SMARCAL1):c.811+38del	SMARCAL1	Deletion (intron variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 1230452	NM_014140.4(SMARCAL1):c.811+36_811+38del	SMARCAL1	Deletion (intron variant)	not provided	GBenign
Select item 1221572	NM_014140.4(SMARCAL1):c.811+37_811+38del	SMARCAL1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1301007	NM_014140.4(SMARCAL1):c.811+103A>G	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289287	NM_014140.4(SMARCAL1):c.811+156T>C	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192981	NM_014140.4(SMARCAL1):c.811+194T>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240515	NM_014140.4(SMARCAL1):c.812-156T>C	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294534	NM_014140.4(SMARCAL1):c.812-104T>C	SMARCAL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1289658	NM_014140.4(SMARCAL1):c.812-89G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253976	NM_014140.4(SMARCAL1):c.862+128del	SMARCAL1	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1238203	NM_014140.4(SMARCAL1):c.862+183G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215847	NM_014140.4(SMARCAL1):c.863-228C>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214419	NM_014140.4(SMARCAL1):c.863-228C>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248584	NM_014140.4(SMARCAL1):c.863-39C>G	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311273	NM_014140.4(SMARCAL1):c.884C>T (p.Pro295Leu)	SMARCAL1 (P295L)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GUncertain significance
Select item 260347	NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala)	SMARCAL1 (P301A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 197799	NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg)	SMARCAL1 (S315R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +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 1191602	NM_014140.4(SMARCAL1):c.1096+28C>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288834	NM_014140.4(SMARCAL1):c.1096+32A>C	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251419	NM_014140.4(SMARCAL1):c.1096+152A>G	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1193935	NM_014140.4(SMARCAL1):c.1148-282G>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392886	NM_014140.4(SMARCAL1):c.1190T>C (p.Leu397Pro)	SMARCAL1 (L397P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 463145	NM_014140.4(SMARCAL1):c.1243A>G (p.Ser415Gly)	SMARCAL1 (S415G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +2 more	GBenign/Likely benign
Select item 1198401	NM_014140.4(SMARCAL1):c.1334+274G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244993	NM_014140.4(SMARCAL1):c.1335-91G>A	SMARCAL1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1278347	NM_014140.4(SMARCAL1):c.1335-23A>G	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504092	NM_014140.4(SMARCAL1):c.1483C>T (p.Gln495Ter)	SMARCAL1 (Q495*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1178243	NM_014140.4(SMARCAL1):c.1485+288T>C	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 977651	NM_014140.4(SMARCAL1):c.1499G>A (p.Trp500Ter)	SMARCAL1 (W500*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 504150	NM_014140.4(SMARCAL1):c.1499_1500delinsTT (p.Trp500Phe)	SMARCAL1 (W500F)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 1281197	NM_014140.4(SMARCAL1):c.1645-274C>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190167	NM_014140.4(SMARCAL1):c.1645-246G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211091	NM_014140.4(SMARCAL1):c.1645-132T>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272559	NM_014140.4(SMARCAL1):c.1645-56T>C	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213148	NM_014140.4(SMARCAL1):c.1710+256C>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236297	NM_014140.4(SMARCAL1):c.1711-283C>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184774	NM_014140.4(SMARCAL1):c.1711-132G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 1282691	NM_014140.4(SMARCAL1):c.1711-119C>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184775	NM_014140.4(SMARCAL1):c.1711-111G>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 1270088	NM_014140.4(SMARCAL1):c.1711-106C>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215444	NM_014140.4(SMARCAL1):c.1711-80C>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426426	NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr)	SMARCAL1 (I576T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2572930	NM_014140.4(SMARCAL1):c.1831C>T (p.Arg611Cys)	SMARCAL1 (R611C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283218	NM_014140.4(SMARCAL1):c.1851+293T>G	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224970	NM_014140.4(SMARCAL1):c.1852-205A>C	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184776	NM_014140.4(SMARCAL1):c.1852-153A>G	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 260339	NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 260341	NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=)	SMARCAL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1073210	NM_014140.4(SMARCAL1):c.2070+2dup	SMARCAL1	Duplication (splice donor variant)	not provided +1 more	GPathogenic
Select item 1239298	NM_014140.4(SMARCAL1):c.2070+43A>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182444	NM_014140.4(SMARCAL1):c.2070+280G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245462	NM_014140.4(SMARCAL1):c.2071-296G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184791	NM_014140.4(SMARCAL1):c.2071-136T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 632064	NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)	SMARCAL1 (T705I)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +4 more	GConflicting classifications of pathogenicity
Select item 1406992	NM_014140.4(SMARCAL1):c.2132_2133delinsTT (p.Pro711Leu)	SMARCAL1 (P711L)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 260342	NM_014140.4(SMARCAL1):c.2141+17T>C	SMARCAL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1288800	NM_014140.4(SMARCAL1):c.2141+56dup	SMARCAL1	Duplication (intron variant)	not provided	GBenign
Select item 1209379	NM_014140.4(SMARCAL1):c.2141+53_2141+54insC	SMARCAL1	Insertion (intron variant)	not provided	GLikely benign
Select item 1198314	NM_014140.4(SMARCAL1):c.2141+55A>C	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204416	NM_014140.4(SMARCAL1):c.2245-278A>C	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574733	NM_014140.4(SMARCAL1):c.2245-192T>C	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263350	NM_014140.4(SMARCAL1):c.2428-350G>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238067	NM_014140.4(SMARCAL1):c.2428-95G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392887	NM_014140.4(SMARCAL1):c.2448C>A (p.Asp816Glu)	SMARCAL1 (D816E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2203262	NM_014140.4(SMARCAL1):c.2449C>T (p.Arg817Cys)	SMARCAL1 (R817C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1033661	NM_014140.4(SMARCAL1):c.2450G>A (p.Arg817His)	SMARCAL1 (R817H)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1175525	NM_014140.4(SMARCAL1):c.2528+35C>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213351	NM_014140.4(SMARCAL1):c.2528+36G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184792	NM_014140.4(SMARCAL1):c.2528+68T>C	SMARCAL1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1276597	NM_014140.4(SMARCAL1):c.2528+131A>G	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262538	NM_014140.4(SMARCAL1):c.2528+198C>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243435	NM_014140.4(SMARCAL1):c.2529-153T>G	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 4171	NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	SMARCAL1 (E848*)	Single nucleotide variant (nonsense)	Decreased body weight +10 more	GPathogenic
Select item 1233156	NM_014140.4(SMARCAL1):c.2625+116dup	SMARCAL1	Duplication (intron variant)	not provided	GBenign
Select item 1203234	NM_014140.4(SMARCAL1):c.2626-268G>A	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243327	NM_014140.4(SMARCAL1):c.2626-191G>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283732	NM_014140.4(SMARCAL1):c.2626-33C>T	SMARCAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294520	NC_000002.12:g.216483194T>C	SMARCAL1	Single nucleotide variant	not provided	GBenign

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Items: 88