"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SMARCD2 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1717447	NM_001098426.2(SMARCD2):c.1586G>C (p.Arg529Pro)	SMARCD2 (R454P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448786	NM_001098426.2(SMARCD2):c.1586G>A (p.Arg529His)	SMARCD2 (R481H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039609	NM_001098426.2(SMARCD2):c.1581A>T (p.Gly527=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790464	NM_001098426.2(SMARCD2):c.1545G>A (p.Val515=)	SMARCD2	Single nucleotide variant (synonymous variant)	Specific granule deficiency 2 +1 more	GBenign/Likely benign
Select item 1122132	NM_001098426.2(SMARCD2):c.1543-8T>G	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530865	NM_001098426.2(SMARCD2):c.1543-11C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914656	NM_001098426.2(SMARCD2):c.1543-15T>G	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086332	NM_001098426.2(SMARCD2):c.1542+20T>C	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905328	NM_001098426.2(SMARCD2):c.1542+7C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758254	NM_001098426.2(SMARCD2):c.1542+7C>G	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1484321	NM_001098426.2(SMARCD2):c.1542G>T (p.Lys514Asn)	SMARCD2 (K439N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781099	NM_001098426.2(SMARCD2):c.1536T>C (p.Phe512=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1058522	NM_001098426.2(SMARCD2):c.1481G>A (p.Arg494Gln)	SMARCD2 (R419Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1073417	NM_001098426.2(SMARCD2):c.1480C>T (p.Arg494Ter)	SMARCD2 (R419* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1432805	NM_001098426.2(SMARCD2):c.1468GAG[2] (p.Glu492del)	SMARCD2 (E444del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2125116	NM_001098426.2(SMARCD2):c.1473_1474del (p.Arg493fs)	SMARCD2 (R493fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1428028	NM_001098426.2(SMARCD2):c.1471G>A (p.Glu491Lys)	SMARCD2 (E491K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115710	NM_001098426.2(SMARCD2):c.1467T>G (p.Pro489=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673329	NM_001098426.2(SMARCD2):c.1464T>C (p.Asn488=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469727	NM_001098426.2(SMARCD2):c.1462A>G (p.Asn488Asp)	SMARCD2 (N488D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717041	NM_001098426.2(SMARCD2):c.1457T>C (p.Ile486Thr)	SMARCD2 (I486T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2058878	NM_001098426.2(SMARCD2):c.1441-9T>G	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853900	NM_001098426.2(SMARCD2):c.1441-17C>G	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1143561	NM_001098426.2(SMARCD2):c.1441-17C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1519048	NM_001098426.2(SMARCD2):c.1440+20G>A	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167393	NM_001098426.2(SMARCD2):c.1440+18G>A	SMARCD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1634844	NM_001098426.2(SMARCD2):c.1440+17C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1094640	NM_001098426.2(SMARCD2):c.1440+17del	SMARCD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1653991	NM_001098426.2(SMARCD2):c.1440+12T>C	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105225	NM_001098426.2(SMARCD2):c.1440+9C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1504137	NM_001098426.2(SMARCD2):c.1440+3G>A	SMARCD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2050941	NM_001098426.2(SMARCD2):c.1440+1G>A	SMARCD2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2167290	NM_001098426.2(SMARCD2):c.1428C>T (p.Arg476=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200697	NM_001098426.2(SMARCD2):c.1426C>T (p.Arg476Cys)	SMARCD2 (R428C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2898850	NM_001098426.2(SMARCD2):c.1417C>T (p.Arg473Cys)	SMARCD2 (R398C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776304	NM_001098426.2(SMARCD2):c.1410A>G (p.Glu470=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915459	NM_001098426.2(SMARCD2):c.1387G>A (p.Asp463Asn)	SMARCD2 (D463N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858624	NM_001098426.2(SMARCD2):c.1386C>T (p.Thr462=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1425287	NM_001098426.2(SMARCD2):c.1376G>A (p.Ser459Asn)	SMARCD2 (S384N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123866	NM_001098426.2(SMARCD2):c.1374_1375del (p.Ser459fs)	SMARCD2 (S411fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2080675	NM_001098426.2(SMARCD2):c.1347G>A (p.Gln449=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959412	NM_001098426.2(SMARCD2):c.1347G>T (p.Gln449His)	SMARCD2 (Q374H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466493	NM_001098426.2(SMARCD2):c.1344C>A (p.Asn448Lys)	SMARCD2 (N400K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009513	NM_001098426.2(SMARCD2):c.1332T>C (p.Ile444=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1006396	NM_001098426.2(SMARCD2):c.1331T>C (p.Ile444Thr)	SMARCD2 (I369T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1387690	NM_001098426.2(SMARCD2):c.1326_1329del (p.Thr443fs)	SMARCD2 (T443fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2064173	NM_001098426.2(SMARCD2):c.1322A>G (p.His441Arg)	SMARCD2 (H393R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747643	NM_001098426.2(SMARCD2):c.1318-6C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796345	NM_001098426.2(SMARCD2):c.1318-16C>G	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987003	NM_001098426.2(SMARCD2):c.1317+10C>G	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972414	NM_001098426.2(SMARCD2):c.1317+6C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2109151	NM_001098426.2(SMARCD2):c.1302C>T (p.Ala434=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696343	NM_001098426.2(SMARCD2):c.1299C>T (p.Ile433=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1397694	NM_001098426.2(SMARCD2):c.1291C>T (p.Gln431Ter)	SMARCD2 (Q383* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1519174	NM_001098426.2(SMARCD2):c.1270C>G (p.Leu424Val)	SMARCD2 (L349V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949753	NM_001098426.2(SMARCD2):c.1265A>G (p.Asn422Ser)	SMARCD2 (N347S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101027	NM_001098426.2(SMARCD2):c.1262G>A (p.Ser421Asn)	SMARCD2 (S346N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352854	NM_001098426.2(SMARCD2):c.1240G>A (p.Asp414Asn)	SMARCD2 (D414N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1077606	NM_001098426.2(SMARCD2):c.1239C>T (p.Asp413=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2968427	NM_001098426.2(SMARCD2):c.1224C>T (p.Ile408=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164555	NM_001098426.2(SMARCD2):c.1218C>T (p.Tyr406=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2990418	NM_001098426.2(SMARCD2):c.1212C>T (p.Ala404=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944400	NM_001098426.2(SMARCD2):c.1205A>C (p.Lys402Thr)	SMARCD2 (K354T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127261	NM_001098426.2(SMARCD2):c.1194C>A (p.Asn398Lys)	SMARCD2 (N323K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066989	NM_001098426.2(SMARCD2):c.1194C>T (p.Asn398=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1566020	NM_001098426.2(SMARCD2):c.1191T>C (p.Pro397=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1165916	NM_001098426.2(SMARCD2):c.1185C>T (p.Val395=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2870168	NM_001098426.2(SMARCD2):c.1182-13G>A	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665047	NM_001098426.2(SMARCD2):c.1182-14T>C	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567778	NM_001098426.2(SMARCD2):c.1182-15A>G	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980168	NM_001098426.2(SMARCD2):c.1182-17C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958088	NM_001098426.2(SMARCD2):c.1182-17C>G	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662639	NM_001098426.2(SMARCD2):c.1182-20_1182-17del	SMARCD2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2964381	NM_001098426.2(SMARCD2):c.1181+19A>G	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969846	NM_001098426.2(SMARCD2):c.1181+18_1181+19insGGGA	SMARCD2	Insertion (intron variant)	not provided	GLikely benign
Select item 1946682	NM_001098426.2(SMARCD2):c.1181+18G>A	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969847	NM_001098426.2(SMARCD2):c.1181+17G>A	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974826	NM_001098426.2(SMARCD2):c.1181+14G>C	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1454359	NM_001098426.2(SMARCD2):c.1181+1del	SMARCD2	Deletion (splice donor variant)	not provided	GPathogenic
Select item 2005714	NM_001098426.2(SMARCD2):c.1171C>T (p.His391Tyr)	SMARCD2 (H316Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179255	NM_001098426.2(SMARCD2):c.1170C>T (p.Asn390=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673858	NM_001098426.2(SMARCD2):c.1164C>T (p.Val388=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534695	NM_001098426.2(SMARCD2):c.1158C>G (p.Pro386=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913467	NM_001098426.2(SMARCD2):c.1148A>G (p.His383Arg)	SMARCD2 (H383R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589430	NM_001098426.2(SMARCD2):c.1128G>A (p.Lys376=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1061887	NM_001098426.2(SMARCD2):c.1123A>T (p.Met375Leu)	SMARCD2 (M300L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910786	NM_001098426.2(SMARCD2):c.1110C>T (p.Phe370=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928222	NM_001098426.2(SMARCD2):c.1084-8T>A	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021168	NM_001098426.2(SMARCD2):c.1084-13G>A	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1611033	NM_001098426.2(SMARCD2):c.1084-14C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916525	NM_001098426.2(SMARCD2):c.1083+20C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649516	NM_001098426.2(SMARCD2):c.1083+13C>G	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908812	NM_001098426.2(SMARCD2):c.1083+9G>A	SMARCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1423127	NM_001098426.2(SMARCD2):c.1081del (p.Gln361fs)	SMARCD2 (Q361fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2061304	NM_001098426.2(SMARCD2):c.1078C>T (p.Arg360Cys)	SMARCD2 (R285C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1470539	NM_001098426.2(SMARCD2):c.1070G>A (p.Arg357His)	SMARCD2 (R282H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416203	NM_001098426.2(SMARCD2):c.1069C>T (p.Arg357Cys)	SMARCD2 (R357C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1570468	NM_001098426.2(SMARCD2):c.1062C>T (p.Asn354=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940212	NM_001098426.2(SMARCD2):c.1056C>T (p.Tyr352=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972314	NM_001098426.2(SMARCD2):c.1053G>A (p.Glu351=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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