ClinVar for MedGen (Select 1826054) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366827	NC_000006.11:g.(129766967_129774132)_(129775434_129777479)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3254680	NM_000426.4(LAMA2):c.2270G>C (p.Cys757Ser)	LAMA2 (C757S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 3251299	NM_000426.4(LAMA2):c.258C>A (p.Cys86Ter)	LAMA2 (C86*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246072	NC_000006.11:g.(?_129393157)_(129465177_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246071	NC_000006.11:g.(?_129723479)_(129725469_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246070	NC_000006.11:g.(?_129380909)_(129796566_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246069	NC_000006.11:g.(?_129371043)_(129670549_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246068	NC_000006.11:g.(?_129581836)_(129641820_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246067	NC_000006.11:g.(?_129498831)_(129514018_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246065	NC_000006.11:g.(?_129663478)_(129663622_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246064	NC_000006.11:g.(?_129823784)_(129837492_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246063	NC_000006.11:g.(?_129813026)_(129824445_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246062	NC_000006.11:g.(?_129813026)_(129813648_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246061	NC_000006.11:g.(?_129794339)_(129837492_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246060	NC_000006.11:g.(?_129777460)_(129837492_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246059	NC_000006.11:g.(?_129649403)_(129663647_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246058	NC_000006.11:g.(?_129633986)_(129637336_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246057	NC_000006.11:g.(?_129371043)_(129470261_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246056	NC_000006.11:g.(?_129371043)_(129419580_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246054	NC_000006.11:g.(?_129371043)_(129514018_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246053	NC_000006.11:g.(?_129465026)_(129465245_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246052	NC_000006.11:g.(?_129663468)_(129663647_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246051	NC_000006.11:g.(?_129513805)_(129514018_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GUncertain significance
Select item 3023545	NM_000426.4(LAMA2):c.2889C>T (p.Gly963=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3022710	NM_000426.4(LAMA2):c.283+13G>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3021863	NM_000426.4(LAMA2):c.3693A>G (p.Glu1231=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3021326	NM_000426.4(LAMA2):c.1885-15T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3020730	NM_000426.4(LAMA2):c.1203A>G (p.Lys401=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3020473	NM_000426.4(LAMA2):c.8076-12A>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3020265	NM_000426.4(LAMA2):c.113-13C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3019741	NM_000426.4(LAMA2):c.30T>C (p.Leu10=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3019711	NM_000426.4(LAMA2):c.664_665insAC (p.Arg222fs)	LAMA2 (R222fs)	Insertion (frameshift variant)	LAMA2-related muscular dystrophy	GPathogenic
Select item 3019522	NM_000426.4(LAMA2):c.222T>C (p.Pro74=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3018894	NM_000426.4(LAMA2):c.2208+20T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3018789	NM_000426.4(LAMA2):c.3060T>C (p.Gly1020=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3018354	NM_000426.4(LAMA2):c.2835T>C (p.Gly945=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3018349	NM_000426.4(LAMA2):c.7451+9T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3018333	NM_000426.4(LAMA2):c.3412-19G>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3018195	NM_000426.4(LAMA2):c.7573-2A>G	LAMA2	Single nucleotide variant (splice acceptor variant)	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3018039	NM_000426.4(LAMA2):c.3146G>A (p.Trp1049Ter)	LAMA2 (W1049*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy	GPathogenic
Select item 3016822	NM_000426.4(LAMA2):c.6085+20C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3016560	NM_000426.4(LAMA2):c.2289G>T (p.Ala763=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3015858	NM_000426.4(LAMA2):c.4176+20C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3015517	NM_000426.4(LAMA2):c.6240T>C (p.Asn2080=)	LAMA2, LOC123864065	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3014459	NM_000426.4(LAMA2):c.4437-20T>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3014329	NM_000426.4(LAMA2):c.8877A>G (p.Gly2959=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3013515	NM_000426.4(LAMA2):c.8988+7G>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3013282	NM_000426.4(LAMA2):c.2749+12A>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3012796	NM_000426.4(LAMA2):c.4860+13A>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3012643	NM_000426.4(LAMA2):c.819+16T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3012641	NM_000426.4(LAMA2):c.2322+16T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3012466	NM_000426.4(LAMA2):c.7573-14T>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3012357	NM_000426.4(LAMA2):c.113-16del	LAMA2	Deletion (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3012135	NM_000426.4(LAMA2):c.1027+20A>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3011651	NM_000426.4(LAMA2):c.7042dup (p.Tyr2348fs)	LAMA2 (Y2348fs)	Duplication (frameshift variant)	LAMA2-related muscular dystrophy	GPathogenic
Select item 3011256	NM_000426.4(LAMA2):c.177A>G (p.Gly59=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3010393	NM_000426.4(LAMA2):c.9226T>G (p.Phe3076Val)	LAMA2 (F3072V +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 3008482	NM_000426.4(LAMA2):c.969A>T (p.Pro323=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3008331	NM_000426.4(LAMA2):c.5234+14T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3008126	NM_000426.4(LAMA2):c.3174+7G>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3007764	NM_000426.4(LAMA2):c.5072-10C>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3005111	NM_000426.4(LAMA2):c.4035T>C (p.Tyr1345=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3005107	NM_000426.4(LAMA2):c.8236C>T (p.Leu2746=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3005028	NM_000426.4(LAMA2):c.915T>C (p.Ser305=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3004009	NM_000426.4(LAMA2):c.6268+12T>C	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3003814	NM_000426.4(LAMA2):c.1626C>A (p.Gly542=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3003130	NM_000426.4(LAMA2):c.1398C>T (p.Cys466=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3002873	NM_000426.4(LAMA2):c.284-18A>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3002272	NM_000426.4(LAMA2):c.1885-11T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3000172	NM_000426.4(LAMA2):c.3925-7T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2999714	NM_000426.4(LAMA2):c.2537+15C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2999477	NM_000426.4(LAMA2):c.1953T>C (p.Asn651=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2999154	NM_000426.4(LAMA2):c.8507C>A (p.Thr2836Asn)	LAMA2 (T2832N +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 2999143	NM_000426.4(LAMA2):c.3552G>C (p.Thr1184=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2998715	NM_000426.4(LAMA2):c.3867G>A (p.Arg1289=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2998649	NM_000426.4(LAMA2):c.9123C>G (p.Val3041=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2997804	NM_000426.4(LAMA2):c.4718-17T>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2997617	NM_000426.4(LAMA2):c.4869G>C (p.Leu1623=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2997538	NM_000426.4(LAMA2):c.2537+10T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2996549	NM_000426.4(LAMA2):c.7062C>T (p.Pro2354=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2996380	NM_000426.4(LAMA2):c.1732del (p.Leu578fs)	LAMA2 (L578fs)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy	GPathogenic
Select item 2995457	NM_000426.4(LAMA2):c.4127T>C (p.Leu1376Ser)	LAMA2 (L1376S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 2993390	NM_000426.4(LAMA2):c.4523+19C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2993388	NM_000426.4(LAMA2):c.4149C>T (p.Pro1383=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2993093	NM_000426.4(LAMA2):c.8244+19C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2992346	NM_000426.4(LAMA2):c.5715T>C (p.Ala1905=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2991643	NM_000426.4(LAMA2):c.8857+7C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2991313	NM_000426.4(LAMA2):c.1746C>T (p.Tyr582=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2991152	NM_000426.4(LAMA2):c.6723A>G (p.Gly2241=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2990757	NM_000426.4(LAMA2):c.5234+17T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2990702	NM_000426.4(LAMA2):c.4686C>T (p.His1562=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2989533	NM_000426.4(LAMA2):c.5577C>T (p.Ile1859=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2988751	NM_000426.4(LAMA2):c.3591G>A (p.Leu1197=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2988384	NM_000426.4(LAMA2):c.6429+15_6429+19dup	LAMA2	Duplication (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2987086	NM_000426.4(LAMA2):c.5962_5963delinsTG (p.Val1988Ter)	LAMA2 (V1988*)	Indel (nonsense)	LAMA2-related muscular dystrophy	GPathogenic
Select item 2986406	NM_000426.4(LAMA2):c.8244+18C>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2986196	NM_000426.4(LAMA2):c.3528T>C (p.Ser1176=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2985743	NM_000426.4(LAMA2):c.283+14T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2985531	NM_000426.4(LAMA2):c.6867+19T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2985093	NM_000426.4(LAMA2):c.9334A>C (p.Arg3112=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign

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