C1832525[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556599	NM_000337.5(SGCD):c.-626_-616del	SGCD	Deletion (genic upstream transcript variant)	not provided +2 more	GBenign/Likely benign
Select item 178658	NC_000005.10:g.156326898G>T	SGCD	Single nucleotide variant (genic upstream transcript variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 558030	NM_000337.5(SGCD):c.-139dup	SGCD	Duplication (genic upstream transcript variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GUncertain significance
Select item 177991	NM_000337.6(SGCD):c.-59G>A	SGCD	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1L +1 more	GConflicting classifications of pathogenicity
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 165225	NM_000337.6(SGCD):c.-44G>T	SGCD	Single nucleotide variant (5 prime UTR variant)	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 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 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 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 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 191774	NM_000337.6(SGCD):c.-43-1G>A	SGCD	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GUncertain significance
Select item 549998	NM_000337.6(SGCD):c.1A>G (p.Met1Val)	SGCD (M1V)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 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 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 178975	NM_000337.6(SGCD):c.4-12C>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GConflicting classifications of pathogenicity
Select item 196256	NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)	SGCD (R11Q +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 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 48121	NM_000337.6(SGCD):c.69C>T (p.Tyr23=)	SGCD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1L +3 more	GConflicting classifications of pathogenicity
Select item 179987	NM_000337.6(SGCD):c.177C>T (p.Val59=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GLikely benign
Select item 551052	NM_000337.6(SGCD):c.192+1G>A	SGCD	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GLikely pathogenic
Select item 165231	NM_000337.6(SGCD):c.193-12G>T	SGCD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1L +2 more	GConflicting classifications of pathogenicity
Select item 191775	NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn)	SGCD (Y90N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 165232	NM_000337.6(SGCD):c.294+1G>A	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +2 more	GLikely pathogenic
Select item 552660	NM_000337.6(SGCD):c.383-47CTCTCTC[4]	SGCD	Microsatellite (intron variant)	Dilated cardiomyopathy 1L +1 more	GLikely benign
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 550146	NM_000337.6(SGCD):c.383-35_383-34insA	SGCD	Insertion (intron variant)	Dilated cardiomyopathy 1L +1 more	GLikely benign
Select item 287453	NM_000337.6(SGCD):c.383-33CTCTCTAT[4]	SGCD	Microsatellite (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 179624	NM_000337.6(SGCD):c.383-33CTCTCTAT[2]	SGCD	Microsatellite (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GConflicting classifications of pathogenicity
Select item 48119	NM_000337.6(SGCD):c.393C>T (p.Ala131=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 177914	NM_000337.6(SGCD):c.394G>A (p.Val132Ile)	SGCD (V132I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GConflicting classifications of pathogenicity
Select item 8172	NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)	SGCD (R165* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 165234	NM_000337.6(SGCD):c.494G>A (p.Arg165Gln)	SGCD (R165Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 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 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 229250	NM_000337.6(SGCD):c.697G>A (p.Glu233Lys)	SGCD (E233K +1 more)	Single nucleotide variant (missense variant)	not specified +2 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 48123	NM_000337.6(SGCD):c.699+18C>G	SGCD (D239E)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GConflicting classifications of pathogenicity
Select item 165235	NM_000337.6(SGCD):c.699+72A>C	SGCD	Single nucleotide variant (stop lost +1 more)	Dilated cardiomyopathy 1L +4 more	GUncertain significance
Select item 43356	NM_000337.6(SGCD):c.731C>T (p.Pro244Leu)	SGCD (P244L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 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 557718	NM_000337.6(SGCD):c.775_777del (p.Lys259del)	SGCD (K259del +1 more)	Deletion (inframe_deletion)	Dilated cardiomyopathy 1L +2 more	GUncertain significance

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Items: 43