"Illumina Laboratory Services, Illumina"[submitter] AND "SGCD"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48113	NM_000337.5(SGCD):c.-412A>T	SGCD	Single nucleotide variant (genic upstream transcript variant)	Qualitative or quantitative defects of delta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
Select item 165220	NM_000337.5(SGCD):c.-404G>A	SGCD	Single nucleotide variant (genic upstream transcript variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GLikely benign
Select item 48112	NM_000337.5(SGCD):c.-372C>G	SGCD	Single nucleotide variant (genic upstream transcript variant)	Qualitative or quantitative defects of delta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
Select item 165222	NM_000337.5(SGCD):c.-352T>C	SGCD	Single nucleotide variant (genic upstream transcript variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 905224	NM_000337.5(SGCD):c.-335T>G	SGCD	Single nucleotide variant (genic upstream transcript variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 48111	NM_000337.5(SGCD):c.-303A>T	SGCD	Single nucleotide variant (genic upstream transcript variant)	Qualitative or quantitative defects of delta-sarcoglycan +5 more	GBenign/Likely benign
Select item 48110	NM_000337.5(SGCD):c.-179A>G	SGCD	Single nucleotide variant (genic upstream transcript variant)	Qualitative or quantitative defects of delta-sarcoglycan +5 more	GBenign/Likely benign
Select item 352330	NM_000337.5(SGCD):c.-135C>T	SGCD	Single nucleotide variant (genic upstream transcript variant)	Qualitative or quantitative defects of delta-sarcoglycan +3 more	GConflicting classifications of pathogenicity
Select item 48114	NM_000337.6(SGCD):c.-94C>G	SGCD	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GBenign
Select item 179031	NM_000337.6(SGCD):c.-44+11G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GConflicting classifications of pathogenicity
Select item 352331	NM_000337.6(SGCD):c.-30G>A	SGCD	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 506908	NM_000337.6(SGCD):c.3+14G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GConflicting classifications of pathogenicity
Select item 202085	NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)	SGCD (E5D +1 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 48125	NM_000337.6(SGCD):c.84T>C (p.Tyr28=)	SGCD	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of delta-sarcoglycan +4 more	GBenign
Select item 196255	NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)	SGCD (R31Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L +5 more	GConflicting classifications of pathogenicity
Select item 36771	NM_000337.6(SGCD):c.105G>C (p.Leu35=)	SGCD	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of delta-sarcoglycan +6 more	GBenign/Likely benign
Select item 48115	NM_000337.6(SGCD):c.123C>G (p.Leu41=)	SGCD	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 352332	NM_000337.6(SGCD):c.193-10T>A	SGCD	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 907807	NM_000337.6(SGCD):c.209T>C (p.Leu70Pro)	SGCD (L69P +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 48116	NM_000337.6(SGCD):c.213G>A (p.Arg71=)	SGCD	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of delta-sarcoglycan +6 more	GConflicting classifications of pathogenicity
Select item 48117	NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)	SGCD (R97Q +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of delta-sarcoglycan +6 more	GBenign/Likely benign
Select item 36772	NM_000337.6(SGCD):c.294+8T>C	SGCD	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of delta-sarcoglycan +6 more	GBenign/Likely benign
Select item 352333	NM_000337.6(SGCD):c.383-14T>C	SGCD	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352334	NM_000337.6(SGCD):c.475G>A (p.Val159Ile)	SGCD (V159I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +4 more	GUncertain significance
Select item 48120	NM_000337.6(SGCD):c.507G>A (p.Ala169=)	SGCD	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 352335	NM_000337.6(SGCD):c.510G>A (p.Glu170=)	SGCD	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 907808	NM_000337.6(SGCD):c.661T>A (p.Cys221Ser)	SGCD (C220S +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 904489	NM_000337.6(SGCD):c.699+15G>A	SGCD	Single nucleotide variant (synonymous variant +1 more)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GConflicting classifications of pathogenicity
Select item 352336	NM_000337.6(SGCD):c.716C>T (p.Ala239Val)	SGCD (A239V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 378577	NM_000337.6(SGCD):c.717G>A (p.Ala239=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 464023	NM_000337.6(SGCD):c.832G>A (p.Ala278Thr)	SGCD (A278T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GConflicting classifications of pathogenicity
Select item 43358	NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)	SGCD (Q283R +1 more)	Single nucleotide variant (missense variant)	SGCD-related condition +7 more	GConflicting classifications of pathogenicity
Select item 352337	NM_000337.6(SGCD):c.*148G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 352338	NM_000337.6(SGCD):c.*150G>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GLikely benign
Select item 352339	NM_000337.6(SGCD):c.*158G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 905271	NM_000337.6(SGCD):c.*173T>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 352340	NM_000337.6(SGCD):c.*317C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352341	NM_000337.6(SGCD):c.*360A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign/Likely benign
Select item 352342	NM_000337.6(SGCD):c.*363C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign/Likely benign
Select item 905272	NM_000337.6(SGCD):c.*440G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GUncertain significance
Select item 905273	NM_000337.6(SGCD):c.*535C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 352343	NM_000337.6(SGCD):c.*557A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352344	NM_000337.6(SGCD):c.*560C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 906871	NM_000337.6(SGCD):c.*561T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 352345	NM_000337.6(SGCD):c.*753C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352346	NM_000337.6(SGCD):c.*767A>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 352347	NM_000337.6(SGCD):c.*781G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign
Select item 906872	NM_000337.6(SGCD):c.*817A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 352348	NM_000337.6(SGCD):c.*822C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 906873	NM_000337.6(SGCD):c.*882G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 352349	NM_000337.6(SGCD):c.*906C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 907859	NM_000337.6(SGCD):c.*944C>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907860	NM_000337.6(SGCD):c.*1037C>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907861	NM_000337.6(SGCD):c.*1047C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352350	NM_000337.6(SGCD):c.*1112G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GLikely benign
Select item 352351	NM_000337.6(SGCD):c.*1171C>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +2 more	GUncertain significance
Select item 907862	NM_000337.6(SGCD):c.*1283C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907863	NM_000337.6(SGCD):c.*1358A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 352352	NM_000337.6(SGCD):c.*1373A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign/Likely benign
Select item 352353	NM_000337.6(SGCD):c.*1527C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign
Select item 904544	NM_000337.6(SGCD):c.*1578T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GLikely benign
Select item 352354	NM_000337.6(SGCD):c.*1618T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign
Select item 352355	NM_000337.6(SGCD):c.*1719G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 904545	NM_000337.6(SGCD):c.*1788G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 352356	NM_000337.6(SGCD):c.1846_1847dup	SGCD	Duplication (3 prime UTR variant)	Dilated Cardiomyopathy, Dominant +2 more	GLikely benign
Select item 352357	NM_000337.6(SGCD):c.*1856A>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 352358	NM_000337.6(SGCD):c.*1871G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 904546	NM_000337.6(SGCD):c.*1877G>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 904547	NM_000337.6(SGCD):c.*1888G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905338	NM_000337.6(SGCD):c.*1906C>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 905339	NM_000337.6(SGCD):c.*1907G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 905340	NM_000337.6(SGCD):c.*1990C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 905341	NM_000337.6(SGCD):c.*2004G>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905342	NM_000337.6(SGCD):c.*2089T>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905343	NM_000337.6(SGCD):c.*2139C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 905344	NM_000337.6(SGCD):c.*2152T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905345	NM_000337.6(SGCD):c.*2166A>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 352359	NM_000337.6(SGCD):c.*2236T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GLikely benign
Select item 352360	NM_000337.6(SGCD):c.*2316G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352361	NM_000337.6(SGCD):c.*2365T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign/Likely benign
Select item 906948	NM_000337.6(SGCD):c.*2476A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 906949	NM_000337.6(SGCD):c.*2521T>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 352362	NM_000337.6(SGCD):c.*2604T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352363	NM_000337.6(SGCD):c.*2697T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GLikely benign
Select item 352364	NM_000337.6(SGCD):c.*2712T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign/Likely benign
Select item 907922	NM_000337.6(SGCD):c.*2720G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907923	NM_000337.6(SGCD):c.*2797A>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352365	NM_000337.6(SGCD):c.*2813C>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +3 more	GUncertain significance
Select item 907924	NM_000337.6(SGCD):c.*2814G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352366	NM_000337.6(SGCD):c.*2814G>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GLikely benign
Select item 907925	NM_000337.6(SGCD):c.*2944G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 352367	NM_000337.6(SGCD):c.*3292A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GLikely benign
Select item 352368	NM_000337.6(SGCD):c.*3361T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 352369	NM_000337.6(SGCD):c.*3413G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign/Likely benign
Select item 352370	NM_000337.6(SGCD):c.*3420C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352371	NM_000337.6(SGCD):c.*3491G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 904621	NM_000337.6(SGCD):c.*3580G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352372	NM_000337.6(SGCD):c.*3650G>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GBenign/Likely benign
Select item 352373	NM_000337.6(SGCD):c.*3656G>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352374	NM_000337.6(SGCD):c.*3687A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GBenign/Likely benign

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