"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SGCD"[gene - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1695144	NC_000005.10:g.156117876A>G	SGCD	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 36771	NM_000337.6(SGCD):c.105G>C (p.Leu35=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 36772	NM_000337.6(SGCD):c.294+8T>C	SGCD	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 8176	NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)	SGCD (S151A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2498991	NM_000337.6(SGCD):c.699+61A>G	SGCD (I254V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 657283	NM_000337.6(SGCD):c.799G>A (p.Ala267Thr)	SGCD (A267T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	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 2655985	NM_000337.6(SGCD):c.*1873C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 352388	NM_000337.6(SGCD):c.4340_4341dup	SGCD	Duplication (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign