C0410173[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 557275	NM_000231.3(SGCG):c.186G>A (p.Trp62Ter)	SGCG (W62* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 208611	NM_000231.3(SGCG):c.195+4_195+7del	SGCG	Microsatellite (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GPathogenic
Select item 283707	NM_000231.3(SGCG):c.195+1G>C	SGCG	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GPathogenic/Likely pathogenic
Select item 2025516	NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)	SGCG (L87* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
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 554984	NM_000231.3(SGCG):c.298-2A>C	SGCG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 651443	NM_000231.3(SGCG):c.342dup (p.Ala115fs)	SGCG (A115fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 655056	NM_000231.3(SGCG):c.385+2T>C	SGCG	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GLikely pathogenic
Select item 1067944	NM_000231.3(SGCG):c.386-2A>C	SGCG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 553947	NM_000231.3(SGCG):c.386-1G>A	SGCG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely 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 283032	NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer)	SGCG	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 859443	NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)	SGCG (R166* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the musculature +1 more	GPathogenic
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 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 1452677	NM_000231.3(SGCG):c.559del (p.Asp187fs)	SGCG (D205fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 553878	NM_000231.3(SGCG):c.578+1G>C	SGCG	Single nucleotide variant (splice donor 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 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 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 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 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 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 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 552513	NM_000231.3(SGCG):c.800_801del (p.Cys267fs)	SGCG (C267fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GPathogenic/Likely pathogenic
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 2005	NM_000231.3(SGCG):c.801_802del (p.Pro268fs)	SGCG (P268fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 2006	NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	SGCG (C283Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 35