"GeneDx"[submitter] AND "SGCB"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 348872	NM_000232.5(SGCB):c.*1105A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
Select item 348875	NM_000232.5(SGCB):c.*724C>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
Select item 348877	NM_000232.5(SGCB):c.*521A>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GBenign
Select item 2435900	NM_000232.5(SGCB):c.947A>G (p.Asn316Ser)	SGCB (N316S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more	GUncertain significance
Select item 255606	NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)	SGCB (G315R)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy, recessive +4 more	GConflicting classifications of pathogenicity
Select item 514162	NM_000232.5(SGCB):c.879G>A (p.Gly293=)	SGCB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 283043	NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)	SGCB (R267C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 282121	NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)	SGCB (T265I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289102	NM_000232.5(SGCB):c.768C>T (p.Ile256=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +2 more	GConflicting classifications of pathogenicity
Select item 681712	NM_000232.5(SGCB):c.754-16A>G	SGCB	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1186374	NM_000232.5(SGCB):c.753+258A>T	SGCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1712561	NM_000232.5(SGCB):c.694G>A (p.Val232Ile)	SGCB (V232I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290601	NM_000232.5(SGCB):c.680G>A (p.Arg227His)	SGCB (R227H)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GUncertain significance
Select item 678981	NM_000232.5(SGCB):c.622-118T>C	SGCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670057	NM_000232.5(SGCB):c.621+170G>A	SGCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 285160	NM_000232.5(SGCB):c.502A>G (p.Met168Val)	SGCB (M168V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 285961	NM_000232.5(SGCB):c.496A>G (p.Ile166Val)	SGCB (I166V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 288286	NM_000232.5(SGCB):c.495C>T (p.Asp165=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +2 more	GConflicting classifications of pathogenicity
Select item 1462557	NM_000232.5(SGCB):c.455A>G (p.Lys152Arg)	SGCB (K152R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 285749	NM_000232.5(SGCB):c.430-5dup	SGCB	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more	GConflicting classifications of pathogenicity
Select item 673967	NM_000232.5(SGCB):c.430-259G>C	SGCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670056	NM_000232.5(SGCB):c.429+193A>C	SGCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 284821	NM_000232.5(SGCB):c.392G>A (p.Arg131Gln)	SGCB (R131Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +3 more	GUncertain significance
Select item 523842	NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)	SGCB (R131*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more	GPathogenic/Likely pathogenic
Select item 282249	NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)	SGCB (I119F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 42035	NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)	SGCB	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 450609	NM_000232.5(SGCB):c.244A>G (p.Ile82Val)	SGCB (I82V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +2 more	GUncertain significance
Select item 255605	NM_000232.5(SGCB):c.244-21T>C	SGCB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1187958	NM_000232.5(SGCB):c.244-169A>G	SGCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194440	NM_000232.5(SGCB):c.243+244G>A	SGCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516368	NM_000232.5(SGCB):c.243+6T>A	SGCB	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1011323	NM_000232.5(SGCB):c.87_89del (p.Arg30del)	SGCB (R30del)	Deletion (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more	GConflicting classifications of pathogenicity
Select item 671565	NM_000232.5(SGCB):c.33+314C>T	SGCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192026	NM_000232.5(SGCB):c.33+244G>C	SGCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515610	NM_000232.5(SGCB):c.33+16C>A	LOC129992585, SGCB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 282248	NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)	LOC129992585, SGCB (Q11E)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of beta-sarcoglycan +3 more	GConflicting classifications of pathogenicity
Select item 283457	NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup)	LOC129992585, SGCB	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 193064	NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup)	LOC129992585, SGCB	Microsatellite (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 420206	NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)	LOC129992585, SGCB	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1215280	NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs)	LOC129992585, SGCB (A6fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more	GPathogenic
Select item 282860	NM_000232.5(SGCB):c.1_2del (p.Met1fs)	LOC129992585, SGCB	Deletion (frameshift variant +1 more)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GPathogenic/Likely pathogenic
Select item 381511	NM_000232.5(SGCB):c.-16C>G	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GConflicting classifications of pathogenicity
Select item 383308	NM_000232.5(SGCB):c.-19C>G	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 388695	NM_000232.5(SGCB):c.-21G>C	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 348886	NM_000232.5(SGCB):c.-25G>A	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GBenign/Likely benign
Select item 1217107	NC_000004.12:g.52038449T>C	LOC129992585, SGCB	Single nucleotide variant	not provided	GLikely benign

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Items: 49