C1263858[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 477459	NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)	LAMA2 (M1T)	Single nucleotide variant (missense variant +1 more)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 557889	NM_000426.4(LAMA2):c.21CCT[4] (p.Leu13dup)	LAMA2	Microsatellite (inframe_insertion)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 554332	NM_000426.4(LAMA2):c.30_32del (p.Leu13del)	LAMA2 (L13del)	Deletion (inframe_deletion)	Merosin deficient congenital muscular dystrophy +1 more	GUncertain significance
Select item 557178	NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)	LAMA2 (Q21*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 557960	NM_000426.4(LAMA2):c.77AGC[4] (p.Gln28dup)	LAMA2	Microsatellite (inframe_insertion)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 555128	NM_000426.4(LAMA2):c.77AGC[5] (p.Gln27_Gln28dup)	LAMA2	Microsatellite (inframe_insertion)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 552296	NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter)	LAMA2 (Q36*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 557249	NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)	LAMA2 (Q95*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 381584	NM_000426.4(LAMA2):c.283+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 557331	NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter)	LAMA2 (W110*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551699	NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)	LAMA2 (Y121*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 282977	NM_000426.4(LAMA2):c.396+1G>T	LAMA2	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more	GPathogenic
Select item 162573	NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)	LAMA2 (S146F)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 557084	NM_000426.4(LAMA2):c.476ATG[1] (p.Asp160del)	LAMA2 (D160del)	Microsatellite (inframe_deletion)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 551094	NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)	LAMA2 (W166*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 287678	NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser)	LAMA2 (C199S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 555388	NM_000426.4(LAMA2):c.611C>A (p.Ser204Tyr)	LAMA2 (S204Y)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 557426	NM_000426.4(LAMA2):c.640-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	Congenital Muscular Dystrophy, LAMA2-related +1 more	GPathogenic/Likely pathogenic
Select item 224092	NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys)	LAMA2 (R239C)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 287489	NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter)	LAMA2 (R273*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 556475	NM_000426.4(LAMA2):c.819+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 552658	NM_000426.4(LAMA2):c.819+2dup	LAMA2	Duplication (splice donor variant)	not specified +1 more	GUncertain significance
Select item 92990	NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)	LAMA2 (S277L)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more	GConflicting classifications of pathogenicity
Select item 477529	NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)	LAMA2 (C314fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic
Select item 552966	NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)	LAMA2 (C318fs)	Insertion (frameshift variant)	LAMA2-related muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 543868	NM_000426.4(LAMA2):c.1027+1G>T	LAMA2	Single nucleotide variant (splice donor variant)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 552820	NM_000426.4(LAMA2):c.1122del (p.Gly376fs)	LAMA2 (G376fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic
Select item 477436	NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)	LAMA2 (R434*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 235805	NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)	LAMA2 (R435*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550061	NM_000426.4(LAMA2):c.1306+2T>G	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GPathogenic/Likely pathogenic
Select item 557933	NM_000426.4(LAMA2):c.1307-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 553512	NM_000426.4(LAMA2):c.1358G>C (p.Cys453Ser)	LAMA2 (C453S)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 162574	NM_000426.4(LAMA2):c.1364G>A (p.Arg455Gln)	LAMA2 (R455Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 554837	NM_000426.4(LAMA2):c.1415_1429del (p.Ser472_Ser476del)	LAMA2	Deletion (inframe_deletion)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 554368	NM_000426.4(LAMA2):c.1467+2T>C	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 552813	NM_000426.4(LAMA2):c.1669CAG[1] (p.Gln558del)	LAMA2 (Q558del)	Microsatellite (inframe_deletion)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 553328	NM_000426.4(LAMA2):c.1782+2dup	LAMA2	Duplication (splice donor variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 551956	NM_000426.4(LAMA2):c.1793_1795del (p.Val598del)	LAMA2 (V598del)	Deletion (inframe_deletion)	Merosin deficient congenital muscular dystrophy +2 more	GUncertain significance
Select item 554743	NM_000426.4(LAMA2):c.1795GGA[1] (p.Gly600del)	LAMA2 (G600del)	Microsatellite (inframe_deletion)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 92944	NM_000426.4(LAMA2):c.2037G>C (p.Ala679=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 38340	NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	LAMA2 (R683fs)	Microsatellite (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 555042	NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val)	LAMA2 (I697V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 551611	NM_000426.4(LAMA2):c.2096+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 554082	NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)	LAMA2 (C726R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 435712	NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)	LAMA2 (W739C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 554268	NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter)	LAMA2 (R744*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic
Select item 554048	NM_000426.4(LAMA2):c.2322+1G>C	LAMA2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 553526	NM_000426.4(LAMA2):c.2323-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	LAMA2-related muscular dystrophy +1 more	GLikely pathogenic
Select item 92946	NM_000426.4(LAMA2):c.2375T>C (p.Phe792Ser)	LAMA2 (F792S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 553312	NM_000426.4(LAMA2):c.2450+5_2450+8del	LAMA2	Microsatellite (splice donor variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 554242	NM_000426.4(LAMA2):c.2451-6A>G	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +1 more	GUncertain significance
Select item 550426	NM_000426.4(LAMA2):c.2451-2A>G	LAMA2	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 552295	NM_000426.4(LAMA2):c.2451-1del	LAMA2	Deletion (splice acceptor variant)	LAMA2-related muscular dystrophy +1 more	GLikely pathogenic
Select item 242608	NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro)	LAMA2 (T821P)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 162584	NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)	LAMA2 (T821M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 477455	NM_000426.4(LAMA2):c.2556del (p.Phe852fs)	LAMA2 (F852fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 552807	NM_000426.4(LAMA2):c.2749+2dup	LAMA2	Duplication (splice donor variant)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic
Select item 194920	NM_000426.4(LAMA2):c.2749+1G>C	LAMA2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92950	NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)	LAMA2 (Q988*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 551522	NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)	LAMA2 (R1029*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +2 more	GPathogenic
Select item 211351	NM_000426.4(LAMA2):c.3110T>C (p.Ile1037Thr)	LAMA2 (I1037T)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 211352	NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=)	LAMA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 556040	NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter)	LAMA2 (R1095*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 550611	NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer)	LAMA2	Deletion (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 555549	NM_000426.4(LAMA2):c.3556-13T>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 167242	NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)	LAMA2 (K1208fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 92954	NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)	LAMA2 (I1210fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 14290	NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)	LAMA2 (Q1240*)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of merosin +3 more	GPathogenic/Likely pathogenic
Select item 556454	NM_000426.4(LAMA2):c.3736-2A>G	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 543847	NM_000426.4(LAMA2):c.3736-2A>T	LAMA2	Single nucleotide variant (splice acceptor variant)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 280520	NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs)	LAMA2 (F1267fs)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy +2 more	GPathogenic
Select item 70342	NM_000426.4(LAMA2):c.3861C>T (p.Ile1287=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 92956	NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)	LAMA2 (R1326*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic
Select item 477467	NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg)	LAMA2 (H1337R)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 554374	NM_000426.4(LAMA2):c.4019_4024dup (p.Ile1341_Lys1342insIleIle)	LAMA2	Duplication (inframe_insertion)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 284984	NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)	LAMA2 (R1350*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +2 more	GPathogenic
Select item 550652	NM_000426.4(LAMA2):c.4107_4109del (p.Met1370del)	LAMA2 (M1370del)	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 552992	NM_000426.4(LAMA2):c.4176+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 557566	NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)	LAMA2 (R1400*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 162577	NM_000426.4(LAMA2):c.4232G>A (p.Gly1411Glu)	LAMA2 (G1411E)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +1 more	GUncertain significance
Select item 191214	NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)	LAMA2 (R1450*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 556066	NM_000426.4(LAMA2):c.4436+1G>C	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 556097	NM_000426.4(LAMA2):c.4468GAC[1] (p.Asp1491del)	LAMA2 (D1491del)	Microsatellite (inframe_deletion)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 557224	NM_000426.4(LAMA2):c.4477C>T (p.Arg1493Cys)	LAMA2 (R1493C)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 556617	NM_000426.4(LAMA2):c.4517G>C (p.Cys1506Ser)	LAMA2 (C1506S)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 422393	NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys)	LAMA2 (R1508K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555441	NM_000426.4(LAMA2):c.4524-2A>T	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GPathogenic/Likely pathogenic
Select item 552022	NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met)	LAMA2 (T1547M)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 14299	NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)	LAMA2 (R1549*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic
Select item 554076	NM_000426.4(LAMA2):c.4660_4668del (p.Gly1554_Lys1556del)	LAMA2	Deletion (inframe_deletion)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 504010	NM_000426.4(LAMA2):c.4682del (p.Lys1561fs)	LAMA2 (K1561fs)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 557277	NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs)	LAMA2 (R1566fs)	Duplication (frameshift variant)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 554566	NM_000426.4(LAMA2):c.4717+1G>C	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 429903	NM_000426.4(LAMA2):c.4717+1G>T	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy +2 more	GLikely pathogenic
Select item 551817	NM_000426.4(LAMA2):c.4743TCT[1] (p.Leu1583del)	LAMA2 (L1583del)	Microsatellite (inframe_deletion)	Merosin deficient congenital muscular dystrophy +1 more	GUncertain significance
Select item 92964	NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter)	LAMA2 (E1684*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 355275	NM_000426.4(LAMA2):c.5072-3C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +3 more	GUncertain significance
Select item 287913	NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)	LAMA2 (R1706*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 551648	NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs)	LAMA2 (K1719fs)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy +1 more	GPathogenic
Select item 553973	NM_000426.4(LAMA2):c.5169GAT[1] (p.Met1724del)	LAMA2 (M1724del)	Microsatellite (inframe_deletion)	Merosin deficient congenital muscular dystrophy	GUncertain significance

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