C0410173[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284971	NM_000231.3(SGCG):c.8G>A (p.Arg3His)	SGCG (R3H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 291214	NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys)	SGCG (Y6C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 597559	NM_000231.3(SGCG):c.34G>A (p.Gly12Ser)	SGCG (G12S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2008	NM_000231.3(SGCG):c.87dup (p.Gly30fs)	SGCG (G30fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 870673	NM_000231.3(SGCG):c.117T>A (p.Phe39Leu)	SGCG (F39L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 530804	NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del)	SGCG (L44del +1 more)	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 290344	NM_000231.3(SGCG):c.142G>A (p.Val48Ile)	SGCG (V48I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 461622	NM_000231.3(SGCG):c.157C>T (p.Leu53Phe)	SGCG (L53F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 289650	NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)	SGCG (L53P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 208611	NM_000231.3(SGCG):c.195+4_195+7del	SGCG	Microsatellite (splice donor variant)	not provided +1 more	GPathogenic
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 501306	NM_000231.3(SGCG):c.196-3C>T	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 2137462	NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)	SGCG (G87R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
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 285054	NM_000231.3(SGCG):c.235C>T (p.Arg79Cys)	SGCG (R79C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 289563	NM_000231.3(SGCG):c.236G>A (p.Arg79His)	SGCG (R79H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1479229	NM_000231.3(SGCG):c.270G>T (p.Leu90Phe)	SGCG (L108F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 290235	NM_000231.3(SGCG):c.275C>A (p.Ala92Asp)	SGCG (A92D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 282290	NM_000231.3(SGCG):c.302C>T (p.Ser101Leu)	SGCG (S101L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 595105	NM_000231.3(SGCG):c.352T>C (p.Ser118Pro)	SGCG (S118P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 286274	NM_000231.3(SGCG):c.385G>A (p.Gly129Ser)	SGCG (G129S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 290553	NM_000231.3(SGCG):c.385+2T>G	SGCG	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 283980	NM_000231.3(SGCG):c.386-2A>G	SGCG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GPathogenic/Likely pathogenic
Select item 881854	NM_000231.3(SGCG):c.392A>G (p.Lys131Arg)	SGCG (K149R +1 more)	Single nucleotide variant (missense variant)	Sarcoglycanopathy +1 more	GUncertain significance
Select item 197646	NM_000231.3(SGCG):c.407A>G (p.Gln136Arg)	SGCG (Q136R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 658686	NM_000231.3(SGCG):c.434A>G (p.Asn145Ser)	SGCG (N145S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 1369190	NM_000231.3(SGCG):c.440G>A (p.Gly147Asp)	SGCG (G147D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 285717	NM_000231.3(SGCG):c.455C>T (p.Thr152Ile)	SGCG (T152I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 530807	NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)	SGCG (R166Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GConflicting classifications of pathogenicity
Select item 1076779	NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)	SGCG (E171* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 281696	NM_000231.3(SGCG):c.517G>A (p.Ala173Thr)	SGCG (A173T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 189243	NM_000231.3(SGCG):c.525del (p.Phe175fs)	SGCG (F193fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	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 972107	NM_000231.3(SGCG):c.535G>A (p.Val179Met)	SGCG (V197M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 284771	NM_000231.3(SGCG):c.539A>T (p.Glu180Val)	SGCG (E180V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1444340	NM_000231.3(SGCG):c.563C>T (p.Pro188Leu)	SGCG (P206L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 499009	NM_000231.3(SGCG):c.575T>G (p.Leu192Arg)	SGCG (L192R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392545	NM_000231.3(SGCG):c.579-2A>G	SGCG	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 281085	NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)	SGCG (L194S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GPathogenic/Likely pathogenic
Select item 285130	NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)	SGCG (R199Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1016199	NM_000231.3(SGCG):c.623G>T (p.Gly208Val)	SGCG (G208V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 548510	NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)	SGCG (I218T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 2158950	NM_000231.3(SGCG):c.659C>T (p.Ala220Val)	SGCG (A220V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 530805	NM_000231.3(SGCG):c.670A>G (p.Met224Val)	SGCG (M224V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
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 226415	NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)	SGCG (S230R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2009	NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)	SGCG (E263K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 500355	NM_000231.3(SGCG):c.792C>G (p.Ile264Met)	SGCG (I264M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284977	NM_000231.3(SGCG):c.803C>T (p.Pro268Leu)	SGCG (P268L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1012627	NM_000231.3(SGCG):c.833G>A (p.Gly278Asp)	SGCG (G278D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 2006	NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	SGCG (C283Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GPathogenic/Likely pathogenic
Select item 311482	NM_000231.3(SGCG):c.*53C>A	SGCG	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GUncertain significance

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Items: 59