ClinVar for MedGen (Select 98045) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024038	NM_000231.3(SGCG):c.703-17C>T	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 3005045	NM_000231.3(SGCG):c.750G>C (p.Gly250=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 3000371	NM_000231.3(SGCG):c.195+19T>C	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2996255	NM_000231.3(SGCG):c.237C>T (p.Arg79=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2992567	NM_000231.3(SGCG):c.703-19C>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2989474	NM_000231.3(SGCG):c.837G>A (p.Val279=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2987938	NM_000231.3(SGCG):c.196-18_196-15del	SGCG	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GBenign
Select item 2985916	NM_000231.3(SGCG):c.579-20G>T	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GBenign
Select item 2985764	NM_000231.3(SGCG):c.375G>A (p.Arg125=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2969205	NM_000231.3(SGCG):c.579-11C>T	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2963224	NM_000231.3(SGCG):c.327G>A (p.Gln109=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2961075	NM_000231.3(SGCG):c.386-15G>C	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2960729	NM_000231.3(SGCG):c.432C>T (p.Ser144=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2954889	NM_000231.3(SGCG):c.138C>T (p.Ile46=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2919971	NM_000231.3(SGCG):c.450A>G (p.Leu150=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2919043	NM_000231.3(SGCG):c.196-19T>C	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2917816	NM_000231.3(SGCG):c.615C>T (p.Ala205=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2911894	NM_000231.3(SGCG):c.753G>C (p.Thr251=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2904716	NM_000231.3(SGCG):c.291C>T (p.Ser97=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2899433	NM_000231.3(SGCG):c.505+22del	SGCG	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GBenign
Select item 2898314	NM_000231.3(SGCG):c.579-15_579-12dup	SGCG	Duplication (intron variant)	SGCG-related condition +1 more	GLikely benign
Select item 2890939	NM_000231.3(SGCG):c.860A>C (p.Asn287Thr)	SGCG (S287T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2888083	NM_000231.3(SGCG):c.867C>A (p.Ile289=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2883794	NM_000231.3(SGCG):c.196-8_196-6del	SGCG	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GBenign
Select item 2882166	NM_000231.3(SGCG):c.506-4T>C	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2879901	NM_000231.3(SGCG):c.578+14T>C	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GBenign
Select item 2878773	NM_000231.3(SGCG):c.386-18A>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2877921	NM_000231.3(SGCG):c.432C>G (p.Ser144=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2875888	NM_000231.3(SGCG):c.297+14_297+15del	SGCG	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2875357	NM_000231.3(SGCG):c.828G>A (p.Val276=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2866156	NM_000231.3(SGCG):c.447A>T (p.Pro149=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2864447	NM_000231.3(SGCG):c.852G>A (p.Gln284=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2859016	NM_000231.3(SGCG):c.381A>G (p.Lys127=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2856641	NM_000231.3(SGCG):c.298-14A>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2853101	NM_000231.3(SGCG):c.385+16T>C	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2848389	NM_000231.3(SGCG):c.579-16_579-14del	SGCG	Microsatellite (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2845158	NM_000231.3(SGCG):c.555A>G (p.Arg185=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2837156	NM_000231.3(SGCG):c.820C>T (p.Leu274=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2834840	NM_000231.3(SGCG):c.237C>G (p.Arg79=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2834820	NM_000231.3(SGCG):c.386-15G>A	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2829486	NM_000231.3(SGCG):c.729C>T (p.Cys243=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2822772	NM_000231.3(SGCG):c.89del (p.Gly30fs)	SGCG (G48fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2821531	NM_000231.3(SGCG):c.578+1G>T	SGCG	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2818710	NM_000231.3(SGCG):c.82del (p.Ile28fs)	SGCG (I28fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2816737	NM_000231.3(SGCG):c.268T>C (p.Leu90=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2813349	NM_000231.3(SGCG):c.213G>A (p.Leu71=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2813083	NM_000231.3(SGCG):c.456T>C (p.Thr152=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2801716	NM_000231.3(SGCG):c.111C>T (p.Tyr37=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2795808	NM_000231.3(SGCG):c.804A>G (p.Pro268=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2793307	NM_000231.3(SGCG):c.578+13G>A	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2781448	NM_000231.3(SGCG):c.298-16A>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2780261	NM_000231.3(SGCG):c.196-1G>A	SGCG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2771549	NM_000231.3(SGCG):c.385+7C>T	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2763769	NM_000231.3(SGCG):c.196-10_196-6del	SGCG	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2763459	NM_000231.3(SGCG):c.735del (p.Lys246fs)	SGCG (K264fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2761856	NM_000231.3(SGCG):c.57G>A (p.Glu19=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2757657	NM_000231.3(SGCG):c.399A>C (p.Val133=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2754254	NM_000231.3(SGCG):c.297+13T>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2752818	NM_000231.3(SGCG):c.195+15T>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2743735	NM_000231.3(SGCG):c.385+11C>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2741127	NM_000231.3(SGCG):c.297+16G>A	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2740381	NM_000231.3(SGCG):c.528_534del (p.His177fs)	SGCG (H177fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2736295	NM_000231.3(SGCG):c.69C>T (p.Val23=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2732166	NM_000231.3(SGCG):c.297+17A>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2726181	NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)	SGCG (C90* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2722419	NM_000231.3(SGCG):c.579-16C>A	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2719452	NM_000231.3(SGCG):c.298-20T>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2718984	NM_000231.3(SGCG):c.627G>A (p.Val209=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2709293	NM_000231.3(SGCG):c.506-14dup	SGCG	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GBenign
Select item 2708918	NM_000231.3(SGCG):c.519T>C (p.Ala173=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2689959	NM_000231.3(SGCG):c.229G>A (p.Gly77Arg)	SGCG (G77R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2689958	NM_000231.3(SGCG):c.195+3A>T	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2678714	NM_000231.3(SGCG):c.298-2A>G	SGCG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 2678713	NM_000231.3(SGCG):c.579-1G>C	SGCG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2678712	NM_000231.3(SGCG):c.579-1G>A	SGCG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2678711	NM_000231.3(SGCG):c.580_584del	SGCG	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2678710	NM_000231.3(SGCG):c.450_456del (p.Leu150_Phe151insTer)	SGCG	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2678708	NM_000231.3(SGCG):c.582dup (p.Glu195fs)	SGCG (E195fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2678707	NM_000231.3(SGCG):c.796del (p.Val266fs)	SGCG (V266fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2678705	NM_000231.3(SGCG):c.758dup (p.Pro254fs)	SGCG (P254fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2678704	NM_000231.3(SGCG):c.10G>T (p.Glu4Ter)	SGCG (E22* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2678703	NM_000231.3(SGCG):c.85dup (p.Tyr29fs)	SGCG (Y29fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2671760	NM_000231.3(SGCG):c.284T>G (p.Ile95Arg)	SGCG (I113R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2585638	NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)	SGCG (W31* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 2585548	NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)	SGCG (Y280* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2584801	NM_000231.3(SGCG):c.284_287del (p.Ile95fs)	SGCG (I113fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2579222	GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0	SGCG	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2579219	GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0	LOC130009363, LOC130009364 +1 more	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2578455	NM_000231.3(SGCG):c.95G>A (p.Arg32Lys)	SGCG (R32K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2435914	NM_000231.3(SGCG):c.655G>A (p.Glu219Lys)	SGCG (E219K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2435912	NM_000231.3(SGCG):c.385G>C (p.Gly129Arg)	SGCG (G129R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2435911	NM_000231.3(SGCG):c.256T>G (p.Phe86Val)	SGCG (F104V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2435910	NM_000231.3(SGCG):c.462T>A (p.Asp154Glu)	SGCG (D154E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2433346	NM_000231.3(SGCG):c.369dup (p.Gly124fs)	SGCG (G124fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2433344	NM_000231.3(SGCG):c.361G>T (p.Glu121Ter)	SGCG (E121* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2422613	NC_000013.10:g.(?_23777834)_(23985378_?)dup	SACS, SGCG	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2422612	NC_000013.10:g.(?_23898487)_(24463459_?)del	MIPEP, PCOTH +3 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2420002	NM_000231.3(SGCG):c.702+9A>C	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2416024	NM_000231.3(SGCG):c.-1+5G>A	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2415695	NM_000231.3(SGCG):c.579-8C>T	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign

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