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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	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)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 348875	NM_000232.5(SGCB):c.*724C>T	SGCB	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 348877	NM_000232.5(SGCB):c.*521A>T	SGCB	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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)	Limb-Girdle Muscular Dystrophy, Recessive +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)	SGCB-related condition +3 more	GConflicting classifications of pathogenicity
Select item 681712	NM_000232.5(SGCB):c.754-16A>G	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +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)	not provided +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)	Autosomal recessive limb-girdle muscular dystrophy type 2E +2 more	GUncertain significance
Select item 285961	NM_000232.5(SGCB):c.496A>G (p.Ile166Val)	SGCB (I166V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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)	Qualitative or quantitative defects of beta-sarcoglycan +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)	Autosomal recessive limb-girdle muscular dystrophy type 2E +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 +1 more	GUncertain significance
Select item 255605	NM_000232.5(SGCB):c.244-21T>C	SGCB	Single nucleotide variant (intron variant)	not specified +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)	not provided +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)	not provided +3 more	GUncertain significance
Select item 283457	NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup)	LOC129992585, SGCB	Microsatellite (inframe_insertion)	Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more	GUncertain significance
Select item 193064	NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup)	LOC129992585, SGCB	Microsatellite (inframe_insertion)	not specified +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)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GBenign/Likely benign
Select item 1217107	NC_000004.12:g.52038449T>C	LOC129992585, SGCB	Single nucleotide variant	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47