"GeneDx"[submitter] AND "LAMA5"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 152

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 1181666	NM_005560.6(LAMA5):c.*53C>T	LAMA5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 279828	NM_005560.6(LAMA5):c.11053G>A (p.Gly3685Arg)	LAMA5 (G3685R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 777608	NM_005560.6(LAMA5):c.11007G>A (p.Ala3669=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1226218	NM_005560.6(LAMA5):c.10949-120A>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273801	NM_005560.6(LAMA5):c.10735-5G>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278497	NM_005560.6(LAMA5):c.10600+47G>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289683	NM_005560.6(LAMA5):c.10600+27T>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277565	NM_005560.6(LAMA5):c.10089-3C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253281	NM_005560.6(LAMA5):c.9807-12C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236441	NM_005560.6(LAMA5):c.9624C>T (p.Ser3208=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1270278	NM_005560.6(LAMA5):c.9361-30C>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271496	NM_005560.6(LAMA5):c.9348C>T (p.Thr3116=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1297290	NM_005560.6(LAMA5):c.9235C>T (p.Arg3079Trp)	LAMA5 (R3079W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1268474	NM_005560.6(LAMA5):c.9224C>T (p.Pro3075Leu)	LAMA5 (P3075L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2186355	NM_005560.6(LAMA5):c.9058C>G (p.Leu3020Val)	LAMA5 (L3020V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1241683	NM_005560.6(LAMA5):c.8505-63C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261561	NM_005560.6(LAMA5):c.8505-188_8505-187del	LAMA5	Deletion (intron variant)	not provided	GBenign
Select item 1250195	NM_005560.6(LAMA5):c.8504+47T>G	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264927	NM_005560.6(LAMA5):c.7868-112G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242865	NM_005560.6(LAMA5):c.7867+237T>G	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278005	NM_005560.6(LAMA5):c.7867+196G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254975	NM_005560.6(LAMA5):c.7757-174T>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279103	NM_005560.6(LAMA5):c.7756+25C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268723	NM_005560.6(LAMA5):c.7512-37C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259373	NM_005560.6(LAMA5):c.7512-93A>G	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276951	NM_005560.6(LAMA5):c.7356+26G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288257	NM_005560.6(LAMA5):c.7292A>T (p.His2431Leu)	LAMA5 (H2431L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1283206	NM_005560.6(LAMA5):c.7239+52T>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279904	NM_005560.6(LAMA5):c.7239+4A>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663642	NM_005560.6(LAMA5):c.7154G>A (p.Arg2385Gln)	LAMA5 (R2385Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775653	NM_005560.6(LAMA5):c.7137C>T (p.Ala2379=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 423670	NM_005560.6(LAMA5):c.7132G>A (p.Glu2378Lys)	LAMA5 (E2378K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252329	NM_005560.6(LAMA5):c.7121T>C (p.Leu2374Pro)	LAMA5 (L2374P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1278267	NM_005560.6(LAMA5):c.7110C>G (p.Thr2370=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1249183	NM_005560.6(LAMA5):c.6962G>A (p.Arg2321Gln)	LAMA5 (R2321Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2066013	NM_005560.6(LAMA5):c.6940C>T (p.Arg2314Trp)	LAMA5 (R2314W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1237070	NM_005560.6(LAMA5):c.6872-209G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274649	NM_005560.6(LAMA5):c.6760-19G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259776	NM_005560.6(LAMA5):c.6759+8dup	LAMA5	Duplication (intron variant)	not provided	GBenign
Select item 1234086	NM_005560.6(LAMA5):c.6677G>A (p.Arg2226His)	LAMA5 (R2226H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2077516	NM_005560.6(LAMA5):c.6659G>T (p.Arg2220Leu)	LAMA5 (R2220L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1290085	NM_005560.6(LAMA5):c.6649-13T>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1895627	NM_005560.6(LAMA5):c.6383C>T (p.Thr2128Met)	LAMA5 (T2128M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282155	NM_005560.6(LAMA5):c.6346+49del	LAMA5	Deletion (intron variant)	not provided	GBenign
Select item 1262059	NM_005560.6(LAMA5):c.6166-56G>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287862	NM_005560.6(LAMA5):c.6166-57G>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228458	NM_005560.6(LAMA5):c.6166-65G>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283192	NM_005560.6(LAMA5):c.6158G>A (p.Arg2053His)	LAMA5 (R2053H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1248223	NM_005560.6(LAMA5):c.6107A>G (p.His2036Arg)	LAMA5 (H2036R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1288176	NM_005560.6(LAMA5):c.6064+189C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274600	NM_005560.6(LAMA5):c.6064+152C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252825	NM_005560.6(LAMA5):c.6064+7G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268875	NM_005560.6(LAMA5):c.5722G>A (p.Ala1908Thr)	LAMA5 (A1908T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1250556	NM_005560.6(LAMA5):c.5698G>A (p.Val1900Met)	LAMA5 (V1900M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1231776	NM_005560.6(LAMA5):c.5643+75G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781768	NM_005560.6(LAMA5):c.5627G>T (p.Gly1876Val)	LAMA5 (G1876V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3365456	NM_005560.6(LAMA5):c.5575G>A (p.Gly1859Ser)	LAMA5 (G1859S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271527	NM_005560.6(LAMA5):c.5529+138A>G	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504303	NM_005560.6(LAMA5):c.5460C>T (p.Gly1820=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1181902	NM_005560.6(LAMA5):c.5298+173T>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287522	NM_005560.6(LAMA5):c.5298+107C>G	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276395	NM_005560.6(LAMA5):c.5298+64A>G	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280082	NM_005560.6(LAMA5):c.5214+46C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226661	NM_005560.6(LAMA5):c.5149C>T (p.His1717Tyr)	LAMA5 (H1717Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1183347	NM_005560.6(LAMA5):c.5112+75C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273008	NM_005560.6(LAMA5):c.5012C>T (p.Thr1671Met)	LAMA5 (T1671M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1347085	NM_005560.6(LAMA5):c.4978C>T (p.Arg1660Trp)	LAMA5 (R1660W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1231171	NM_005560.6(LAMA5):c.4939-28G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264457	NM_005560.6(LAMA5):c.4938+41T>G	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2186356	NM_005560.6(LAMA5):c.4879C>T (p.Arg1627Cys)	LAMA5 (R1627C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287323	NM_005560.6(LAMA5):c.4797+39G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2578295	NM_005560.6(LAMA5):c.4627T>C (p.Cys1543Arg)	LAMA5 (C1543R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225127	NM_005560.6(LAMA5):c.4530G>A (p.Leu1510=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1272198	NM_005560.6(LAMA5):c.4448-185_4448-183del	LAMA5	Microsatellite (intron variant)	not provided	GBenign
Select item 1253575	NM_005560.6(LAMA5):c.4447+151C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343951	NM_005560.6(LAMA5):c.4409G>A (p.Arg1470His)	LAMA5 (R1470H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235522	NM_005560.6(LAMA5):c.4120-137GGCTG[4]	LAMA5	Microsatellite (intron variant)	not provided	GBenign
Select item 1234671	NM_005560.6(LAMA5):c.4120-137GGCTG[2]	LAMA5	Microsatellite (intron variant)	not provided	GBenign
Select item 1276347	NM_005560.6(LAMA5):c.4120-148C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276525	NM_005560.6(LAMA5):c.4120-195T>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269394	NM_005560.6(LAMA5):c.4099A>G (p.Lys1367Glu)	LAMA5 (K1367E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1248105	NM_005560.6(LAMA5):c.3853-47A>G	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250477	NM_005560.6(LAMA5):c.3852+52T>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233173	NM_005560.6(LAMA5):c.3773T>C (p.Met1258Thr)	LAMA5 (M1258T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1277916	NM_005560.6(LAMA5):c.3650+33G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287794	NM_005560.6(LAMA5):c.3553-71_3553-70insCCTGCACCCCCCCCATCGTACCA	LAMA5	Microsatellite (intron variant)	not provided	GBenign
Select item 1281098	NM_005560.6(LAMA5):c.3553-84G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289156	NM_005560.6(LAMA5):c.3552+214A>G	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291934	NM_005560.6(LAMA5):c.3534A>G (p.Glu1178=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3117516	NM_005560.6(LAMA5):c.3502G>T (p.Asp1168Tyr)	LAMA5 (D1168Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1267760	NM_005560.6(LAMA5):c.3381C>T (p.Ala1127=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1232634	NM_005560.6(LAMA5):c.3283-122G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272986	NM_005560.6(LAMA5):c.3282+143CTCCTGC[4]	LAMA5	Microsatellite (intron variant)	not provided	GBenign
Select item 1271445	NM_005560.6(LAMA5):c.3282+143CTCCTGC[7]	LAMA5	Microsatellite (intron variant)	not provided	GBenign
Select item 1243787	NM_005560.6(LAMA5):c.3282+143CTCCTGC[6]	LAMA5	Microsatellite (intron variant)	not provided	GBenign
Select item 1220954	NM_005560.6(LAMA5):c.3282+143CTCCTGC[5]	LAMA5	Microsatellite (intron variant)	not provided	GBenign
Select item 1182558	NM_005560.6(LAMA5):c.2878+75C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258390	NM_005560.6(LAMA5):c.2878+45CCCAC[5]	LAMA5	Microsatellite (intron variant)	not provided	GBenign
Select item 1247900	NM_005560.6(LAMA5):c.2878+39GCCCA[3]	LAMA5	Microsatellite (intron variant)	not provided	GBenign

<< First< Prev

Page of 2