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

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

Search results

Items: 1 to 100 of 115

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1291872	NM_002340.6(LSS):c.*78del	LSS	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1235234	NM_002340.6(LSS):c.*33G>A	LSS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1805095	NM_002340.6(LSS):c.2149_2161del (p.Gly717fs)	LSS (G637fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1277484	NM_002340.6(LSS):c.2068-136A>G	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233283	NM_002340.6(LSS):c.2068-161T>C	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266874	NM_002340.6(LSS):c.2068-209T>C	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192855	NM_002340.6(LSS):c.2068-273G>A	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211649	NM_002340.6(LSS):c.2067+250C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668540	NM_002340.6(LSS):c.2063C>T (p.Pro688Leu)	LSS (P677L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1287112	NM_002340.6(LSS):c.1989-293T>G	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183357	NM_002340.6(LSS):c.1988+236A>G	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270190	NM_002340.6(LSS):c.1988+211A>C	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683859	NM_002340.6(LSS):c.1988+114C>G	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216227	NM_002340.6(LSS):c.1988+8C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 677176	NM_002340.6(LSS):c.1950T>C (p.His650=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 677175	NM_002340.6(LSS):c.1924T>G (p.Leu642Val)	LSS (L631V +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4 +2 more	GBenign
Select item 783884	NM_002340.6(LSS):c.1865G>A (p.Arg622Gln)	LSS (R542Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1244264	NM_002340.6(LSS):c.1840C>T (p.Arg614Trp)	LSS (R534W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1265917	NM_002340.6(LSS):c.1818-85C>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210616	NM_002340.6(LSS):c.1817+187C>G	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265444	NM_002340.6(LSS):c.1817+89GTTT[5]	LSS	Microsatellite (intron variant)	not provided	GBenign
Select item 769142	NM_002340.6(LSS):c.1788C>T (p.Phe596=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1211875	NM_002340.6(LSS):c.1737-221C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282662	NM_002340.6(LSS):c.1736+45C>G	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254090	NM_002340.6(LSS):c.1736+36C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707082	NM_002340.6(LSS):c.1702C>T (p.Arg568Trp)	LSS (R488W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1282413	NM_002340.6(LSS):c.1670+206G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261042	NM_002340.6(LSS):c.1670+92A>G	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371538	NM_002340.6(LSS):c.1622T>C (p.Leu541Pro)	LSS (L461P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230174	NM_002340.6(LSS):c.1565-249C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2046152	NM_002340.6(LSS):c.1564G>A (p.Gly522Arg)	LSS (G522R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 834064	NM_002340.6(LSS):c.1547A>G (p.Asn516Ser)	LSS (N516S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276794	NM_002340.6(LSS):c.1468-46G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228977	NM_002340.6(LSS):c.1468-77G>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193582	NM_002340.6(LSS):c.1467+252C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213086	NM_002340.6(LSS):c.1467+236C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270182	NM_002340.6(LSS):c.1467+97G>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3373480	NM_002340.6(LSS):c.1378G>A (p.Ala460Thr)	LSS (A380T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221811	NM_002340.6(LSS):c.1318-227_1318-226del	LSS	Deletion (intron variant)	not provided	GBenign
Select item 1182645	NM_002340.6(LSS):c.1267-97C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186157	NM_002340.6(LSS):c.1267-128G>A	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1696902	NM_002340.6(LSS):c.1267-145C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271795	NM_002340.6(LSS):c.1267-160C>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272368	NM_002340.6(LSS):c.1266+200C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2506673	NM_002340.6(LSS):c.1196C>T (p.Ala399Val)	LSS (A319V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267229	NM_002340.6(LSS):c.1195-31C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219671	NM_002340.6(LSS):c.1195-43G>A	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281343	NM_002340.6(LSS):c.1194+52G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 834067	NM_002340.6(LSS):c.1194+5G>A	LSS	Single nucleotide variant (intron variant)	LSS-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1711981	NM_002340.6(LSS):c.1147G>A (p.Gly383Ser)	LSS (G303S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681490	NM_002340.6(LSS):c.1138-4G>T	LSS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1278131	NM_002340.6(LSS):c.1138-204C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276809	NM_002340.6(LSS):c.1138-293A>G	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288936	NM_002340.6(LSS):c.1138-302G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234761	NM_002340.6(LSS):c.1138-304C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263292	NM_002340.6(LSS):c.1137+55T>C	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258676	NM_002340.6(LSS):c.1110-29A>G	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696898	NM_002340.6(LSS):c.1110-222C>G	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191080	NM_002340.6(LSS):c.1109+85C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1306489	NM_002340.6(LSS):c.1109+5G>A	LSS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1306750	NM_002340.6(LSS):c.1054G>A (p.Gly352Arg)	LSS (G272R +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1278526	NM_002340.6(LSS):c.1012-40G>C	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224882	NM_002340.6(LSS):c.1011+179C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677221	NM_002340.6(LSS):c.929A>G (p.His310Arg)	LSS (H299R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1245450	NM_002340.6(LSS):c.893-8C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261338	NM_002340.6(LSS):c.893-93dup	LSS	Duplication (intron variant)	not provided	GBenign
Select item 1264699	NM_002340.6(LSS):c.892+54C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266032	NM_002340.6(LSS):c.892+22G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677174	NM_002340.6(LSS):c.864G>C (p.Pro288=)	LSS	Single nucleotide variant (synonymous variant)	Alopecia-intellectual disability syndrome 4 +2 more	GBenign
Select item 1256056	NM_002340.6(LSS):c.857A>G (p.Tyr286Cys)	LSS (Y206C +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4 +2 more	GLikely pathogenic
Select item 770674	NM_002340.6(LSS):c.846C>T (p.Pro282=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 677173	NM_002340.6(LSS):c.784-6C>T	LSS	Single nucleotide variant (intron variant)	Alopecia-intellectual disability syndrome 4 +2 more	GBenign
Select item 1231307	NM_002340.6(LSS):c.784-149G>C	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269641	NM_002340.6(LSS):c.784-176G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306749	NM_002340.6(LSS):c.779G>A (p.Arg260His)	LSS (R180H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 783885	NM_002340.6(LSS):c.752C>T (p.Ala251Val)	LSS (A240V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1275259	NM_002340.6(LSS):c.648-119C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203537	NM_002340.6(LSS):c.648-240C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226508	NM_002340.6(LSS):c.648-269G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696908	NM_002340.6(LSS):c.647+32G>A	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3252193	NM_002340.6(LSS):c.645G>A (p.Met215Ile)	LSS (M135I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310024	NM_002340.6(LSS):c.620G>C (p.Gly207Ala)	LSS (G127A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703938	NM_002340.6(LSS):c.596T>G (p.Val199Gly)	LSS (V119G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 677172	NM_002340.6(LSS):c.551-6G>C	LSS	Single nucleotide variant (genic upstream transcript variant +1 more)	Alopecia-intellectual disability syndrome 4 +2 more	GBenign
Select item 1258919	NM_002340.6(LSS):c.551-62G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192780	NM_002340.6(LSS):c.550+277G>A	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198603	NM_002340.6(LSS):c.550+216C>G	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181870	NM_002340.6(LSS):c.550+68C>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526304	NM_002340.6(LSS):c.530G>A (p.Arg177Gln)	LSS (R166Q +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 677220	NM_002340.6(LSS):c.524G>A (p.Arg175Gln)	LSS (R164Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1315336	NM_002340.6(LSS):c.473A>G (p.Tyr158Cys)	LSS (Y147C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264822	NM_002340.6(LSS):c.429-107G>C	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250503	NM_002340.6(LSS):c.429-127G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280446	NM_002340.6(LSS):c.428+272G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250329	NM_002340.6(LSS):c.428+221G>C	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283519	NM_002340.6(LSS):c.428+147G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230291	NM_002340.6(LSS):c.428+130G>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677219	NM_002340.6(LSS):c.363C>T (p.Ala121=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1186449	NM_002340.6(LSS):c.320-165C>A	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 2