ClinVar for MedGen (Select 373284) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359214	NM_133642.5(LARGE1):c.106+1218_106+5708del	LARGE1	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 3336679	NM_133642.5(LARGE1):c.312G>A (p.Met104Ile)	LARGE1 (M104I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 3247712	NC_000022.10:g.(?_33984774)_(34022277_?)del	LARGE1	Deletion	Muscular dystrophy-dystroglycanopathy type B6	GLikely pathogenic
Select item 3247702	NC_000022.10:g.(?_33828127)_(33961025_?)dup	LARGE1	Duplication	Muscular dystrophy-dystroglycanopathy type B6	GLikely pathogenic
Select item 3247691	NC_000022.10:g.(?_33700195)_(33780310_?)del	LARGE1	Deletion	Muscular dystrophy-dystroglycanopathy type B6	GPathogenic
Select item 3247680	NC_000022.10:g.(?_33777885)_(33780310_?)del	LARGE1	Deletion	Muscular dystrophy-dystroglycanopathy type B6	GPathogenic
Select item 3247669	NC_000022.10:g.(?_33670413)_(33828271_?)del	LARGE1	Deletion	Muscular dystrophy-dystroglycanopathy type B6	GPathogenic
Select item 3247657	NC_000022.10:g.(?_33960814)_(34000564_?)del	LARGE1	Deletion	Muscular dystrophy-dystroglycanopathy type B6	GPathogenic
Select item 3247646	NC_000022.10:g.(?_33670413)_(34046674_?)del	LARGE1	Deletion	Muscular dystrophy-dystroglycanopathy type B6	GPathogenic
Select item 3247635	NC_000022.10:g.(?_33777885)_(34157463_?)del	LARGE1	Deletion	Muscular dystrophy-dystroglycanopathy type B6	GPathogenic
Select item 3247624	NC_000022.10:g.(?_34000401)_(34000564_?)del	LARGE1	Deletion	Muscular dystrophy-dystroglycanopathy type B6	GPathogenic
Select item 3247613	NC_000022.10:g.(?_34046333)_(34046674_?)del	LARGE1	Deletion	Muscular dystrophy-dystroglycanopathy type B6	GPathogenic
Select item 3023140	NM_133642.5(LARGE1):c.465C>T (p.Thr155=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3022336	NM_133642.5(LARGE1):c.642A>G (p.Lys214=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3022264	NM_133642.5(LARGE1):c.204C>T (p.Arg68=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3019540	NM_133642.5(LARGE1):c.408+5A>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 3018858	NM_133642.5(LARGE1):c.528C>T (p.Ser176=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3016943	NM_133642.5(LARGE1):c.1287+1G>A	LARGE1	Single nucleotide variant (splice donor variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6	GLikely pathogenic
Select item 3015701	NM_133642.5(LARGE1):c.106+7A>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3015024	NM_133642.5(LARGE1):c.1132-16del	LARGE1	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3014282	NM_133642.5(LARGE1):c.1126C>T (p.Leu376=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3013335	NM_133642.5(LARGE1):c.787+20T>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3012953	NM_133642.5(LARGE1):c.231C>T (p.Arg77=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3012476	NM_133642.5(LARGE1):c.787+11C>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3007303	NM_133642.5(LARGE1):c.787+18G>A	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3005587	NM_133642.5(LARGE1):c.1110C>T (p.Tyr370=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3004991	NM_133642.5(LARGE1):c.186C>T (p.Arg62=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3004836	NM_133642.5(LARGE1):c.1242G>A (p.Arg414=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3003187	NM_133642.5(LARGE1):c.1488G>A (p.Glu496=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3003186	NM_133642.5(LARGE1):c.1536G>A (p.Gln512=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 3003185	NM_133642.5(LARGE1):c.1539C>T (p.Phe513=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2995653	NM_133642.5(LARGE1):c.2046G>A (p.Val682=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2991053	NM_133642.5(LARGE1):c.1914C>T (p.Asn638=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2990561	NM_133642.5(LARGE1):c.225G>A (p.Glu75=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2989993	NM_133642.5(LARGE1):c.684C>G (p.Thr228=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2988994	NM_133642.5(LARGE1):c.1731-10C>A	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2988563	NM_133642.5(LARGE1):c.892+19A>C	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2986607	NM_133642.5(LARGE1):c.1257C>T (p.Cys419=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2986495	NM_133642.5(LARGE1):c.616-20C>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2981795	NM_133642.5(LARGE1):c.1132-4C>A	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2980761	NM_133642.5(LARGE1):c.1730+7A>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2979973	NM_133642.5(LARGE1):c.1287+17G>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2977905	NM_133642.5(LARGE1):c.616-4C>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2977623	NM_133642.5(LARGE1):c.2160C>T (p.Asn720=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2976447	NM_133642.5(LARGE1):c.801G>C (p.Leu267=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2973858	NM_133642.5(LARGE1):c.616-7T>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2964187	NM_133642.5(LARGE1):c.864G>A (p.Trp288Ter)	LARGE1 (W288* +1 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy type B6	GPathogenic
Select item 2963936	NM_133642.5(LARGE1):c.2064G>A (p.Leu688=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2960373	NM_133642.5(LARGE1):c.788-15C>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2957796	NM_133642.5(LARGE1):c.1626C>G (p.Pro542=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2954614	NM_133642.5(LARGE1):c.297C>T (p.Ser99=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2918277	NM_133642.5(LARGE1):c.153C>T (p.Ser51=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2918087	NM_133642.5(LARGE1):c.787+17C>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2915823	NM_133642.5(LARGE1):c.1006-6C>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2915662	NM_133642.5(LARGE1):c.861A>T (p.Pro287=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2913309	NM_133642.5(LARGE1):c.1770A>G (p.Lys590=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2912748	NM_133642.5(LARGE1):c.1433C>T (p.Ala478Val)	LARGE1 (A426V +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 2912358	NM_133642.5(LARGE1):c.420T>C (p.Val140=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2912020	NM_133642.5(LARGE1):c.1877+11C>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2911509	NM_133642.5(LARGE1):c.2271G>A (p.Ter757=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2911480	NM_133642.5(LARGE1):c.1095C>T (p.Arg365=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2911203	NM_133642.5(LARGE1):c.1566G>A (p.Val522=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2910902	NM_133642.5(LARGE1):c.132G>T (p.Pro44=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2910874	NM_133642.5(LARGE1):c.405C>T (p.Cys135=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2910320	NM_133642.5(LARGE1):c.1131+16G>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2909243	NM_133642.5(LARGE1):c.750C>T (p.Asp250=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2908997	NM_133642.5(LARGE1):c.45G>T (p.Ser15=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2908951	NM_133642.5(LARGE1):c.1730+13A>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2906705	NM_133642.5(LARGE1):c.1098C>T (p.Ser366=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2905847	NM_133642.5(LARGE1):c.1428G>A (p.Leu476=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2905416	NM_133642.5(LARGE1):c.124C>T (p.Leu42=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2898207	NM_133642.5(LARGE1):c.804C>A (p.Gly268=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2897067	NM_133642.5(LARGE1):c.255G>A (p.Leu85=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2897061	NM_133642.5(LARGE1):c.1006-20C>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2895761	NM_133642.5(LARGE1):c.893-14G>A	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2894835	NM_133642.5(LARGE1):c.15C>T (p.Cys5=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2891411	NM_133642.5(LARGE1):c.788-18A>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2889494	NM_133642.5(LARGE1):c.1132-5G>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2888060	NM_133642.5(LARGE1):c.1170G>A (p.Lys390=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2888024	NM_133642.5(LARGE1):c.1132-10T>C	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2887721	NM_133642.5(LARGE1):c.893-10T>C	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2887216	NM_133642.5(LARGE1):c.1005+11A>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2886539	NM_133642.5(LARGE1):c.1119G>C (p.Val373=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2883245	NM_133642.5(LARGE1):c.892+8C>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2882742	NM_133642.5(LARGE1):c.132G>C (p.Pro44=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2881642	NM_133642.5(LARGE1):c.1808G>A (p.Arg603Gln)	LARGE1 (R402Q +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 2881328	NM_133642.5(LARGE1):c.2152C>T (p.Arg718Cys)	LARGE1 (R416C +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 2880252	NM_133642.5(LARGE1):c.107-19C>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2880183	NM_133642.5(LARGE1):c.639T>C (p.Asn213=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2879681	NM_133642.5(LARGE1):c.939G>A (p.Glu313=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2879611	NM_133642.5(LARGE1):c.807G>A (p.Leu269=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2877997	NM_133642.5(LARGE1):c.624T>A (p.Val208=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2876240	NM_133642.5(LARGE1):c.1877+20G>A	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2875605	NM_133642.5(LARGE1):c.2166A>G (p.Gln722=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2873103	NM_133642.5(LARGE1):c.893-15T>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2872309	NM_133642.5(LARGE1):c.408+19C>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2869086	NM_133642.5(LARGE1):c.106+10G>A	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2868140	NM_133642.5(LARGE1):c.2097C>T (p.Pro699=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2867801	NM_133642.5(LARGE1):c.1440G>A (p.Leu480=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2867128	NM_133642.5(LARGE1):c.2074-18G>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign

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