"PreventionGenetics, part of Exact Sciences"[submitter] AND "SGCA"[gen - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042872	NM_000023.4(SGCA):c.-9C>T	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	SGCA-related disorder	GLikely benign
Select item 288271	NM_000023.4(SGCA):c.-8G>A	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 281148	NM_000023.4(SGCA):c.37+6T>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GUncertain significance
Select item 596004	NM_000023.4(SGCA):c.37+10G>T	SGCA	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 254719	NM_000023.4(SGCA):c.37+23G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GBenign/Likely benign
Select item 254720	NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)	SGCA (T21I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 254717	NM_000023.4(SGCA):c.158-4C>A	SGCA	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 597056	NM_000023.4(SGCA):c.242G>A (p.Arg81His)	SGCA (R81H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 254718	NM_000023.4(SGCA):c.313-39C>A	SGCA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 92303	NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)	SGCA (R110W)	Single nucleotide variant (missense variant +1 more)	Sarcoglycanopathy +5 more	GConflicting classifications of pathogenicity
Select item 497073	NM_000023.4(SGCA):c.366G>A (p.Leu122=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287947	NM_000023.4(SGCA):c.408C>T (p.Ala136=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GConflicting classifications of pathogenicity
Select item 130293	NM_000023.4(SGCA):c.528C>T (p.Thr176=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 2634002	NM_000023.4(SGCA):c.653G>A (p.Ser218Asn)	SGCA (S218N)	Single nucleotide variant (missense variant +2 more)	SGCA-related disorder	GUncertain significance
Select item 254721	NM_000023.4(SGCA):c.662G>A (p.Arg221His)	SGCA (R221H)	Single nucleotide variant (missense variant +2 more)	Sarcoglycanopathy +3 more	GConflicting classifications of pathogenicity
Select item 198033	NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)	SGCA (P227R)	Single nucleotide variant (missense variant +2 more)	Sarcoglycanopathy +3 more	GConflicting classifications of pathogenicity
Select item 1653809	NM_000023.4(SGCA):c.804C>T (p.Ile268=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GLikely benign
Select item 281388	NM_000023.4(SGCA):c.819G>T (p.Pro273=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1638904	NM_000023.4(SGCA):c.894G>C (p.Leu298=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GLikely benign
Select item 130294	NM_000023.4(SGCA):c.933C>T (p.Val311=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 254722	NM_000023.4(SGCA):c.957-43G>A	SGCA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1151605	NM_000023.4(SGCA):c.978C>T (p.Thr326=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GLikely benign
Select item 324046	NM_000023.4(SGCA):c.*10C>G	SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	SGCA-related disorder +3 more	GBenign

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Items: 23