"GeneDx"[submitter] AND "LARGE1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 341428	NM_133642.5(LARGE1):c.*207G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 341429	NM_133642.5(LARGE1):c.*154C>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 703381	NM_133642.5(LARGE1):c.2256C>T (p.Ala752=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 162585	NM_133642.5(LARGE1):c.2255C>G (p.Ala752Gly)	LARGE1 (A752G +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 668696	NM_133642.5(LARGE1):c.2217C>G (p.Ser739=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 95172	NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +3 more	GBenign/Likely benign
Select item 1253448	NM_133642.5(LARGE1):c.2074-69C>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683021	NM_133642.5(LARGE1):c.2074-98G>C	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225834	NM_133642.5(LARGE1):c.2074-109G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673870	NM_133642.5(LARGE1):c.2074-265G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674467	NM_133642.5(LARGE1):c.2073+152G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259532	NM_133642.5(LARGE1):c.2073+12G>T	LARGE1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 386898	NM_133642.5(LARGE1):c.2004G>A (p.Pro668=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GLikely benign
Select item 704779	NM_133642.5(LARGE1):c.2001C>T (p.Cys667=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 95171	NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)	LARGE1 (R665H +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 194517	NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95170	NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)	LARGE1 (R650Q +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 657473	NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met)	LARGE1 (T631M +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GConflicting classifications of pathogenicity
Select item 516143	NM_133642.5(LARGE1):c.1878-11G>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GBenign/Likely benign
Select item 1188216	NM_133642.5(LARGE1):c.1878-24A>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683020	NM_133642.5(LARGE1):c.1877+183C>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213523	NM_133642.5(LARGE1):c.1877+99C>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298264	NM_133642.5(LARGE1):c.1877+89G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95169	NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +3 more	GBenign
Select item 1306825	NM_133642.5(LARGE1):c.1802G>A (p.Arg601His)	LARGE1 (R400H +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 384484	NM_133642.5(LARGE1):c.1791C>T (p.Phe597=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GLikely benign
Select item 167250	NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 777864	NM_133642.5(LARGE1):c.1785C>T (p.Pro595=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 283538	NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)	LARGE1 (M592I +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GBenign/Likely benign
Select item 1711989	NM_133642.5(LARGE1):c.1750G>A (p.Asp584Asn)	LARGE1 (D383N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 95168	NM_133642.5(LARGE1):c.1731-24T>C	LARGE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1233224	NM_133642.5(LARGE1):c.1731-87G>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294932	NM_133642.5(LARGE1):c.1731-88G>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672499	NM_133642.5(LARGE1):c.1731-91C>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668921	NM_133642.5(LARGE1):c.1730+286A>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678425	NM_133642.5(LARGE1):c.1730+239G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678424	NM_133642.5(LARGE1):c.1730+118G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683056	NM_133642.5(LARGE1):c.1730+67A>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 586122	NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn)	LARGE1 (K552N +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 1040991	NM_133642.5(LARGE1):c.1645G>A (p.Val549Met)	LARGE1 (V296M +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 95167	NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +3 more	GConflicting classifications of pathogenicity
Select item 509799	NM_133642.5(LARGE1):c.1614C>T (p.Gly538=)	LARGE1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 211369	NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +3 more	GConflicting classifications of pathogenicity
Select item 1312448	NM_133642.5(LARGE1):c.1570A>C (p.Met524Leu)	LARGE1 (M271L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95166	NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GBenign/Likely benign
Select item 95165	NM_133642.5(LARGE1):c.1452-28C>T	LARGE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 678423	NM_133642.5(LARGE1):c.1452-209T>C	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182589	NM_133642.5(LARGE1):c.1452-225C>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677627	NM_133642.5(LARGE1):c.1452-226_1452-225insGATATCA	LARGE1	Insertion (intron variant)	not provided	GLikely benign
Select item 1180413	NM_133642.5(LARGE1):c.1452-254A>C	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217152	NM_133642.5(LARGE1):c.1452-293A>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206583	NM_133642.5(LARGE1):c.1451+273A>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292567	NM_133642.5(LARGE1):c.1451+197T>C	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259529	NM_133642.5(LARGE1):c.1451+38C>T	LARGE1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 512474	NM_133642.5(LARGE1):c.1451+12G>A	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GLikely benign
Select item 95164	NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)	LARGE1 (V474I +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 579774	NM_133642.5(LARGE1):c.1413C>A (p.Ser471Arg)	LARGE1 (S471R +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 423606	NM_133642.5(LARGE1):c.1343G>A (p.Arg448Gln)	LARGE1 (R448Q +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341433	NM_133642.5(LARGE1):c.1320C>T (p.Asp440=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1189071	NM_133642.5(LARGE1):c.1288-125G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683019	NM_133642.5(LARGE1):c.1288-214G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670455	NM_133642.5(LARGE1):c.1287+146C>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683055	NM_133642.5(LARGE1):c.1287+105G>C	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186639	NM_133642.5(LARGE1):c.1287+56A>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683053	NM_133642.5(LARGE1):c.1132-153C>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683052	NM_133642.5(LARGE1):c.1132-175A>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683051	NM_133642.5(LARGE1):c.1132-190G>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683057	NM_133642.5(LARGE1):c.1132-208G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270912	NM_133642.5(LARGE1):c.1132-318A>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 59077	GRCh38/hg38 22q12.3(chr22:33380871-33754201)x1	LARGE-AS1, LARGE1 +10 more	Copy number loss	See cases	GPathogenic
Select item 1226143	NM_133642.5(LARGE1):c.1131+258C>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204397	NM_133642.5(LARGE1):c.1131+221C>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208157	NM_133642.5(LARGE1):c.1131+110G>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674547	NM_133642.5(LARGE1):c.1131+58C>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 289726	NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GConflicting classifications of pathogenicity
Select item 193676	NM_133642.5(LARGE1):c.1071T>C (p.Asn357=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 507072	NM_133642.5(LARGE1):c.1056C>A (p.Leu352=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 158804	NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GBenign
Select item 683050	NM_133642.5(LARGE1):c.1006-195G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280199	NM_133642.5(LARGE1):c.1006-280A>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199717	NM_133642.5(LARGE1):c.1005+282G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211517	NM_133642.5(LARGE1):c.1005+176C>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201553	NM_133642.5(LARGE1):c.1005+98G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 452074	NM_133642.5(LARGE1):c.929T>A (p.Met310Lys)	LARGE1 (M310K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138076	NM_133642.5(LARGE1):c.893-17C>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GBenign
Select item 1229032	NM_133642.5(LARGE1):c.893-64_893-55del	LARGE1	Deletion (intron variant)	not provided	GBenign
Select item 683027	NM_133642.5(LARGE1):c.893-235T>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672933	NM_133642.5(LARGE1):c.892+79T>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95177	NM_133642.5(LARGE1):c.892+50C>T	LARGE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2501878	NM_133642.5(LARGE1):c.862T>C (p.Trp288Arg)	LARGE1 (W288R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259536	NM_133642.5(LARGE1):c.788-29A>G	LARGE1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 677516	NM_133642.5(LARGE1):c.788-65A>G	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670678	NM_133642.5(LARGE1):c.788-181G>A	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287470	NM_133642.5(LARGE1):c.788-333ATGA[10]	LARGE1	Microsatellite (intron variant)	not provided	GBenign
Select item 1220064	NM_133642.5(LARGE1):c.788-333ATGA[11]	LARGE1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1257856	NM_133642.5(LARGE1):c.788-333ATGA[8]	LARGE1	Microsatellite (intron variant)	not provided	GBenign
Select item 1289656	NM_133642.5(LARGE1):c.788-331_788-330insATGCATGAATGA	LARGE1	Microsatellite (intron variant)	not provided	GBenign
Select item 1281444	NM_133642.5(LARGE1):c.788-331_788-330insATGCATGA	LARGE1	Insertion (intron variant)	not provided	GBenign
Select item 1277263	NM_133642.5(LARGE1):c.788-331_788-330insATGCGTGA	LARGE1	Insertion (intron variant)	not provided	GBenign
Select item 1277220	NM_133642.5(LARGE1):c.788-330A>C	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign

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