Related gene-specific medical variations for Gene (Select 6445) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244164	NC_000013.10:g.(?_23808791)_(23810016_?)del	SGCG	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 3244160	NC_000013.10:g.(?_23853478)_(23869646_?)del	SGCG	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 3244159	NC_000013.10:g.(?_23777834)_(23824876_?)del	SGCG	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 3244158	NC_000013.10:g.(?_23898487)_(23898680_?)del	SGCG	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 3244157	NC_000013.10:g.(?_23869534)_(23869646_?)del	SGCG	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 3240451	NM_000231.3(SGCG):c.750dup (p.Thr251fs)	SGCG (T251fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 3240450	NM_000231.3(SGCG):c.310dup (p.Leu104fs)	SGCG (L104fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
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 2684375	NM_000231.3(SGCG):c.*2C>T	SGCG	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
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 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 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 1325063	NM_000231.3(SGCG):c.684del (p.His229fs)	SGCG (H229fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 1323590	NM_000231.3(SGCG):c.177dup (p.Val60fs)	SGCG (V60fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 1323589	NM_000231.3(SGCG):c.526G>T (p.Glu176Ter)	SGCG (E176* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 1256426	NM_000231.3(SGCG):c.100C>T (p.Arg34Cys)	SGCG (R34C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 995252	NM_000231.3(SGCG):c.637G>T (p.Ala213Ser)	SGCG (A213S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989607	NM_000231.3(SGCG):c.607A>G (p.Met203Val)	SGCG (M203V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 989606	NM_000231.3(SGCG):c.-126C>A	SGCG	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 689571	NM_000231.3(SGCG):c.164T>G (p.Ile55Ser)	SGCG (I55S +1 more)	Single nucleotide variant (missense variant)	Proximal muscle weakness	GUncertain significance
Select item 559421	NM_000231.3(SGCG):c.800G>C (p.Cys267Ser)	SGCG (C267S +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 559420	NM_000231.3(SGCG):c.801T>C (p.Cys267=)	SGCG	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 394366	GRCh37/hg19 13q12.12(chr13:23816341-23893534)x3	SGCG	Copy number gain	See cases	GUncertain significance
Select item 226232	GRCh37/hg19 13q12.12(chr13:23803922-23853233)	SGCG	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 36