ClinVar for MedGen (Select 335735) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2713565	NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)	SGCD	Microsatellite (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GPathogenic
Select item 2678702	NM_000337.6(SGCD):c.18_37del (p.Gln6fs)	SGCD (Q5fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2678701	NM_000337.6(SGCD):c.699+1G>A	SGCD (V234M)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2678700	NM_000337.6(SGCD):c.441dup (p.Leu148fs)	SGCD (L147fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2678699	NM_000337.6(SGCD):c.717dup (p.Lys240fs)	SGCD (K239fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2678698	NM_000337.6(SGCD):c.400del (p.Ala134fs)	SGCD (A133fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2678697	NM_000337.6(SGCD):c.227del (p.Gly76fs)	SGCD (G75fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2584603	NM_000337.6(SGCD):c.193-63405A>G	SGCD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1L	GUncertain significance
Select item 1785021	NM_000337.6(SGCD):c.204A>G (p.Gly68=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1677453	NM_000337.6(SGCD):c.289C>T (p.Arg97Ter)	SGCD (R96* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1451957	NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)	SGCD (R33* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1450883	NM_000337.6(SGCD):c.534A>G (p.Ile178Met)	SGCD (I177M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1406856	NM_000337.6(SGCD):c.761C>A (p.Thr254Lys)	SGCD (T253K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GUncertain significance
Select item 1358322	NM_000337.6(SGCD):c.31C>T (p.Arg11Trp)	SGCD (R11W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +4 more	GUncertain significance
Select item 1357398	NM_000337.6(SGCD):c.749C>T (p.Ser250Phe)	SGCD (S249F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1200963	NM_000337.6(SGCD):c.337A>C (p.Asn113His)	SGCD (N112H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1152288	NM_000337.6(SGCD):c.105G>T (p.Leu35=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GLikely benign
Select item 1128659	NM_000337.6(SGCD):c.363G>T (p.Val121=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1093326	NM_000337.6(SGCD):c.798C>T (p.Cys266=)	SGCD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1L +2 more	GLikely benign
Select item 1090822	NM_000337.6(SGCD):c.447C>G (p.Leu149=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1087057	NM_000337.6(SGCD):c.783C>T (p.Phe261=)	SGCD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1L +2 more	GLikely benign
Select item 1060764	NM_000337.6(SGCD):c.274A>C (p.Lys92Gln)	SGCD (K91Q +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1011342	NM_000337.6(SGCD):c.586C>A (p.Pro196Thr)	SGCD (P195T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1006947	NM_000337.6(SGCD):c.616A>G (p.Lys206Glu)	SGCD (K205E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GUncertain significance
Select item 1005026	NM_000337.6(SGCD):c.511G>A (p.Gly171Ser)	SGCD (G170S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 994204	NM_000337.6(SGCD):c.298A>C (p.Asn100His)	SGCD (N100H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GUncertain significance
Select item 968720	NM_000337.6(SGCD):c.452C>T (p.Ser151Phe)	SGCD (S151F +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 946381	NM_000337.6(SGCD):c.354_358del (p.Thr119fs)	SGCD (T118fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GPathogenic
Select item 907998	NM_000337.6(SGCD):c.*4935C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 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 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 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 907070	NM_000337.6(SGCD):c.*7566C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 907012	NM_000337.6(SGCD):c.*6186C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 907010	NM_000337.6(SGCD):c.*6127G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 905987	NM_000337.6(SGCD):c.*5884A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 905613	NM_000337.6(SGCD):c.*8356T>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 905480	NM_000337.6(SGCD):c.*5819G>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	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 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 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 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 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 904766	NM_000337.6(SGCD):c.*6664C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 904763	NM_000337.6(SGCD):c.*6518C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 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 837681	NM_000337.6(SGCD):c.292C>T (p.Pro98Ser)	SGCD (P97S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 701188	NM_000337.6(SGCD):c.153C>T (p.Ala51=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GLikely benign
Select item 696377	NM_000337.6(SGCD):c.630C>T (p.Ile210=)	SGCD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1L +3 more	GBenign/Likely benign
Select item 694557	NM_000337.6(SGCD):c.538A>T (p.Thr180Ser)	SGCD (T179S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 684822	NM_000337.6(SGCD):c.25C>T (p.His9Tyr)	SGCD (H8Y +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 681097	NM_000337.6(SGCD):c.642T>C (p.Ala214=)	SGCD	Single nucleotide variant (synonymous variant)	SGCD-related disorder +3 more	GLikely benign
Select item 657283	NM_000337.6(SGCD):c.799G>A (p.Ala267Thr)	SGCD (A267T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 652862	NM_000337.6(SGCD):c.91C>T (p.Arg31Trp)	SGCD (R30W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GUncertain significance
Select item 648245	NM_000337.6(SGCD):c.832G>T (p.Ala278Ser)	SGCD (A278S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GUncertain significance
Select item 594269	NM_000337.6(SGCD):c.352C>A (p.Gln118Lys)	SGCD (Q118K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 593968	NM_000337.6(SGCD):c.358A>G (p.Lys120Glu)	SGCD (K120E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 583211	NM_000337.6(SGCD):c.4-1G>T	SGCD	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GLikely pathogenic
Select item 582822	NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)	SGCD (R198Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 579398	NM_000337.6(SGCD):c.340A>G (p.Ile114Val)	SGCD (I114V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 558382	NM_000337.6(SGCD):c.772C>T (p.Gln258Ter)	SGCD (Q258* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 558197	NM_000337.6(SGCD):c.699+1G>T	SGCD (V234L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1L +1 more	GLikely pathogenic
Select item 558030	NM_000337.5(SGCD):c.-139dup	SGCD	Duplication (genic upstream transcript variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 557858	NM_000337.6(SGCD):c.383-33_383-13del	SGCD	Deletion (intron variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 557718	NM_000337.6(SGCD):c.775_777del (p.Lys259del)	SGCD (K259del +1 more)	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 557704	NM_000337.6(SGCD):c.3+1G>A	SGCD	Single nucleotide variant (splice donor variant +1 more)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 557336	NM_000337.6(SGCD):c.-44+1G>C	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 557061	NM_000337.6(SGCD):c.618del (p.Gly207fs)	SGCD (G206fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1L +1 more	GLikely pathogenic
Select item 557026	NM_000337.6(SGCD):c.663C>A (p.Cys221Ter)	SGCD (C221* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GConflicting classifications of pathogenicity
Select item 556922	NM_000337.6(SGCD):c.-44+2T>G	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 556722	NM_000337.6(SGCD):c.3+2T>A	SGCD	Single nucleotide variant (splice donor variant +1 more)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 556599	NM_000337.5(SGCD):c.-626_-616del	SGCD	Deletion (genic upstream transcript variant)	Dilated cardiomyopathy 1L +2 more	GBenign/Likely benign
Select item 555052	NM_000337.6(SGCD):c.-44+1_-44+2dup	SGCD	Duplication (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 554848	NM_000337.6(SGCD):c.-44+2T>A	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 553642	NM_000337.6(SGCD):c.69C>A (p.Tyr23Ter)	SGCD (Y23* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1L +1 more	GLikely pathogenic
Select item 552679	NM_000337.6(SGCD):c.-44+1G>A	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 552660	NM_000337.6(SGCD):c.383-47CTCTCTC[4]	SGCD	Microsatellite (intron variant)	Dilated cardiomyopathy 1L +1 more	GLikely benign
Select item 551052	NM_000337.6(SGCD):c.192+1G>A	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GLikely pathogenic
Select item 550146	NM_000337.6(SGCD):c.383-35_383-34insA	SGCD	Insertion (intron variant)	Dilated cardiomyopathy 1L +1 more	GLikely benign
Select item 549998	NM_000337.6(SGCD):c.1A>G (p.Met1Val)	SGCD (M1V)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 532692	NM_000337.6(SGCD):c.98G>A (p.Arg33Gln)	SGCD (R33Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 532691	NM_000337.6(SGCD):c.4-1G>A	SGCD	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 516657	NM_000337.6(SGCD):c.786G>A (p.Glu262=)	SGCD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1L +2 more	GLikely benign
Select item 496846	NM_000337.6(SGCD):c.295-40T>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GBenign
Select item 464022	NM_000337.6(SGCD):c.817C>T (p.Leu273=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 464019	NM_000337.6(SGCD):c.434C>G (p.Ser145Cys)	SGCD (S145C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GUncertain significance
Select item 464018	NM_000337.6(SGCD):c.354G>T (p.Gln118His)	SGCD (Q118H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 411709	NM_000337.6(SGCD):c.566A>G (p.Lys189Arg)	SGCD (K189R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L +4 more	GUncertain significance
Select item 411708	NM_000337.6(SGCD):c.559C>T (p.Pro187Ser)	SGCD (P187S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GUncertain significance
Select item 411706	NM_000337.6(SGCD):c.458A>G (p.Asp153Gly)	SGCD (D153G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 392073	NM_000337.6(SGCD):c.594G>T (p.Arg198=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GLikely benign
Select item 378576	NM_000337.6(SGCD):c.294+15A>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GLikely benign
Select item 378575	NM_000337.6(SGCD):c.193-17T>G	SGCD	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 352454	NM_000337.6(SGCD):c.*8380A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352452	NM_000337.6(SGCD):c.*8110A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352444	NM_000337.6(SGCD):c.*7596A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +4 more	GBenign/Likely benign
Select item 352443	NM_000337.6(SGCD):c.*7559G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352441	NM_000337.6(SGCD):c.*7507A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352438	NM_000337.6(SGCD):c.*7300C>A	SGCD	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 352437	NM_000337.6(SGCD):c.*7298A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance

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