"GeneDx"[submitter] AND "SMCHD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 59616	GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1	ADCYAP1, CETN1 +83 more	Copy number loss	See cases	GPathogenic
Select item 58747	GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3	ADCYAP1, CETN1 +113 more	Copy number gain	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 151494	GRCh38/hg38 18p11.32(chr18:2549225-2700108)x3	LOC125338464, LOC126862679 +9 more	Copy number gain	See cases	GLikely benign
Select item 1272270	NC_000018.10:g.2655552G>A	SMCHD1	Single nucleotide variant	not provided	GBenign
Select item 1222021	NC_000018.10:g.2655612C>T	LOC130062083, SMCHD1	Single nucleotide variant	not provided	GBenign
Select item 1291846	NC_000018.10:g.2655706A>G	LOC130062083, SMCHD1	Single nucleotide variant	not provided	GBenign
Select item 500900	NM_015295.3(SMCHD1):c.37T>G (p.Ser13Ala)	SMCHD1 (S13A)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +3 more	GUncertain significance
Select item 260632	NM_015295.3(SMCHD1):c.174G>C (p.Ala58=)	LOC130062084, SMCHD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1300861	NM_015295.3(SMCHD1):c.186+243C>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301170	NM_015295.3(SMCHD1):c.187-260C>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272081	NM_015295.3(SMCHD1):c.187-110A>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259770	NM_015295.3(SMCHD1):c.187-72T>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246580	NM_015295.3(SMCHD1):c.262+25G>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239396	NM_015295.3(SMCHD1):c.262+48T>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295551	NM_015295.3(SMCHD1):c.263-164T>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 282399	NM_015295.3(SMCHD1):c.306G>A (p.Ser102=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 260646	NM_015295.3(SMCHD1):c.399T>C (p.Tyr133=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1180096	NM_015295.3(SMCHD1):c.424+33T>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225057	NM_015295.3(SMCHD1):c.425-203A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246713	NM_015295.3(SMCHD1):c.425-77A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693064	NM_015295.3(SMCHD1):c.507+137A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273269	NM_015295.3(SMCHD1):c.507+146C>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256829	NM_015295.3(SMCHD1):c.507+235_507+236del	SMCHD1	Deletion (intron variant)	not provided	GBenign
Select item 1253469	NM_015295.3(SMCHD1):c.638+109T>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707960	NM_015295.3(SMCHD1):c.638+154A>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249076	NM_015295.3(SMCHD1):c.638+224T>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262388	NM_015295.3(SMCHD1):c.639-229C>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678721	NM_015295.3(SMCHD1):c.639-138A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229102	NM_015295.3(SMCHD1):c.639-122C>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256669	NM_015295.3(SMCHD1):c.639-86A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300969	NM_015295.3(SMCHD1):c.754-53G>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300961	NM_015295.3(SMCHD1):c.754-52C>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 373806	NM_015295.3(SMCHD1):c.758T>C (p.Ile253Thr)	SMCHD1 (I253T)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 2499751	NM_015295.3(SMCHD1):c.810A>T (p.Glu270Asp)	SMCHD1 (E270D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280776	NM_015295.3(SMCHD1):c.848A>G (p.Tyr283Cys)	SMCHD1 (Y283C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1240674	NM_015295.3(SMCHD1):c.873+53G>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179954	NM_015295.3(SMCHD1):c.873+196T>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311220	NM_015295.3(SMCHD1):c.977G>A (p.Gly326Glu)	SMCHD1 (G326E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280772	NM_015295.3(SMCHD1):c.1030C>T (p.Arg344Ter)	SMCHD1 (R344*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 464158	NM_015295.3(SMCHD1):c.1040+1G>A	SMCHD1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1238941	NM_015295.3(SMCHD1):c.1040+276G>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275918	NM_015295.3(SMCHD1):c.1041-199C>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1514102	NM_015295.3(SMCHD1):c.1126A>T (p.Ile376Phe)	SMCHD1 (I376F)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 1700390	NM_015295.3(SMCHD1):c.1132-175T>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232027	NM_015295.3(SMCHD1):c.1132-146A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304238	NM_015295.3(SMCHD1):c.1291C>T (p.Pro431Ser)	SMCHD1 (P431S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721125	NM_015295.3(SMCHD1):c.1304A>G (p.Asp435Gly)	SMCHD1 (D435G)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 1714887	NM_015295.3(SMCHD1):c.1330T>G (p.Cys444Gly)	SMCHD1 (C444G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1258125	NM_015295.3(SMCHD1):c.1342+86T>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252805	NM_015295.3(SMCHD1):c.1342+133A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232688	NM_015295.3(SMCHD1):c.1342+207G>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222850	NM_015295.3(SMCHD1):c.1343-333G>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300656	NM_015295.3(SMCHD1):c.1343-242G>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260629	NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=)	SMCHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1223042	NM_015295.3(SMCHD1):c.1647+199A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304908	NM_015295.3(SMCHD1):c.1647+245dup	SMCHD1	Duplication (intron variant)	not provided	GBenign
Select item 1282342	NM_015295.3(SMCHD1):c.1647+259dup	SMCHD1	Duplication (intron variant)	not provided	GBenign
Select item 1257146	NM_015295.3(SMCHD1):c.1647+246G>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300452	NM_015295.3(SMCHD1):c.1647+252T>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328614	NM_015295.3(SMCHD1):c.1648-31A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260631	NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=)	SMCHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1259732	NM_015295.3(SMCHD1):c.1843-77A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183372	NM_015295.3(SMCHD1):c.1843-59T>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269341	NM_015295.3(SMCHD1):c.1843-17dup	SMCHD1	Duplication (intron variant)	not provided	GBenign
Select item 1254106	NM_015295.3(SMCHD1):c.1843-17del	SMCHD1	Deletion (intron variant)	not provided	GBenign
Select item 1300644	NM_015295.3(SMCHD1):c.1843-18T>A	SMCHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1238447	NM_015295.3(SMCHD1):c.1843-17T>A	SMCHD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1471670	NM_015295.3(SMCHD1):c.1844T>G (p.Val615Gly)	SMCHD1 (V615G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 260633	NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1300637	NM_015295.3(SMCHD1):c.1956+79G>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274980	NM_015295.3(SMCHD1):c.2063+24G>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300888	NM_015295.3(SMCHD1):c.2063+153A>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248814	NM_015295.3(SMCHD1):c.2064-286G>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300437	NM_015295.3(SMCHD1):c.2064-200del	SMCHD1	Deletion (intron variant)	not provided	GLikely benign
Select item 260637	NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile)	SMCHD1 (V708I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 260638	NM_015295.3(SMCHD1):c.2147-7C>T	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2 +2 more	GBenign/Likely benign
Select item 1233165	NM_015295.3(SMCHD1):c.2260+228T>C	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227478	NM_015295.3(SMCHD1):c.2260+335_2260+346dup	SMCHD1	Duplication (intron variant)	not provided	GBenign
Select item 1232187	NM_015295.3(SMCHD1):c.2261-273A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295955	NM_015295.3(SMCHD1):c.2261-207del	SMCHD1	Deletion (intron variant)	not provided	GBenign
Select item 1326434	NM_015295.3(SMCHD1):c.2261-96C>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178726	NM_015295.3(SMCHD1):c.2338+32A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1246699	NM_015295.3(SMCHD1):c.2458+171G>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239709	NM_015295.3(SMCHD1):c.2458+269C>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230407	NM_015295.3(SMCHD1):c.2458+293A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1333058	NM_015295.3(SMCHD1):c.2459-37G>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276178	NM_015295.3(SMCHD1):c.2603+25T>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278547	NM_015295.3(SMCHD1):c.2603+253A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253754	NM_015295.3(SMCHD1):c.2603+288_2603+290del	SMCHD1	Deletion (intron variant)	not provided	GBenign
Select item 1339635	NM_015295.3(SMCHD1):c.2604-83A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260640	NM_015295.3(SMCHD1):c.2637A>T (p.Lys879Asn)	SMCHD1 (K879N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1265680	NM_015295.3(SMCHD1):c.2700+205A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263651	NM_015295.3(SMCHD1):c.2700+234C>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295911	NM_015295.3(SMCHD1):c.2700+240G>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277869	NM_015295.3(SMCHD1):c.2700+275A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250879	NM_015295.3(SMCHD1):c.2701-217C>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269054	NM_015295.3(SMCHD1):c.2701-211C>A	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239896	NM_015295.3(SMCHD1):c.2701-85C>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GBenign

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