"Counsyl"[submitter] AND "SGCB"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550132	NM_000232.5(SGCB):c.*18C>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 551840	NM_000232.5(SGCB):c.857del (p.Lys286fs)	SGCB (K286fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 370474	NM_000232.5(SGCB):c.699_702del (p.Phe233fs)	SGCB (F233fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 466603	NM_000232.5(SGCB):c.656_657del (p.Lys219fs)	SGCB (K219fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic/Likely pathogenic
Select item 555560	NM_000232.5(SGCB):c.650del (p.Asn217fs)	SGCB (N217fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic/Likely pathogenic
Select item 370115	NM_000232.5(SGCB):c.622-2A>G	SGCB	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic/Likely pathogenic
Select item 553619	NM_000232.5(SGCB):c.621+1G>T	SGCB	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic/Likely pathogenic
Select item 556837	NM_000232.5(SGCB):c.595_598del (p.Asn199fs)	SGCB (N199fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic/Likely pathogenic
Select item 371156	NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)	SGCB	Deletion (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic/Likely pathogenic
Select item 8713	NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)	SGCB (Y184*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic/Likely pathogenic
Select item 534948	NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys)	SGCB (Y184C)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more	GConflicting classifications of pathogenicity
Select item 558332	NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)	SGCB (G167S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GConflicting classifications of pathogenicity
Select item 8712	NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)	SGCB (T151R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551412	NM_000232.5(SGCB):c.429+24G>T	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 282249	NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)	SGCB (I119F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555821	NM_000232.5(SGCB):c.334C>T (p.Gln112Ter)	SGCB (Q112*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 8718	NM_000232.5(SGCB):c.299T>A (p.Met100Lys)	SGCB (M100K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GConflicting classifications of pathogenicity
Select item 499193	NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)	SGCB (R91C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 551805	NM_000232.5(SGCB):c.265G>A (p.Val89Met)	SGCB (V89M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 554840	NM_000232.5(SGCB):c.243+3_243+6del	SGCB	Deletion (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GConflicting classifications of pathogenicity
Select item 554369	NM_000232.5(SGCB):c.243+2T>G	SGCB	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 552461	NM_000232.5(SGCB):c.243+1G>T	SGCB	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 370264	NM_000232.5(SGCB):c.216_219del (p.Phe73fs)	SGCB (F73fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 558663	NM_000232.5(SGCB):c.124_125insTTA (p.Ala42delinsValThr)	SGCB	Insertion (inframe_indel)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 370775	NM_000232.5(SGCB):c.85A>T (p.Arg29Ter)	SGCB (R29*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 550761	NM_000232.5(SGCB):c.33+1G>A	LOC129992585, SGCB	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 371175	NM_000232.5(SGCB):c.29_33del (p.Glu10fs)	LOC129992585, SGCB (E10fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551330	NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup)	LOC129992585, SGCB	Duplication (inframe_insertion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 552086	NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup)	LOC129992585, SGCB	Duplication (inframe_insertion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 371353	NM_000232.5(SGCB):c.-15_8del (p.Met1fs)	SGCB, LOC129992585 (M1fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic

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Items: 30