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

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550717	NM_000231.3(SGCG):c.133del (p.Ile45fs)	SGCG (I45fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 557275	NM_000231.3(SGCG):c.186G>A (p.Trp62Ter)	SGCG (W62* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 208611	NM_000231.3(SGCG):c.195+4_195+7del	SGCG	Microsatellite (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GPathogenic
Select item 283707	NM_000231.3(SGCG):c.195+1G>C	SGCG	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 111583	NM_000231.3(SGCG):c.196-6195C>T	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 554984	NM_000231.3(SGCG):c.298-2A>C	SGCG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 555462	NM_000231.3(SGCG):c.385+2T>A	SGCG	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 553947	NM_000231.3(SGCG):c.386-1G>A	SGCG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 189243	NM_000231.3(SGCG):c.525del (p.Phe175fs)	SGCG (F193fs)	Deletion (frameshift variant)	SGCG-related congenital myopathy +2 more	GPathogenic/Likely pathogenic
Select item 553878	NM_000231.3(SGCG):c.578+1G>C	SGCG	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 392545	NM_000231.3(SGCG):c.579-2A>G	SGCG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GPathogenic/Likely pathogenic
Select item 281085	NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)	SGCG (L194S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 553202	NM_000231.3(SGCG):c.591dup (p.Thr198fs)	SGCG (T198fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 555320	NM_000231.3(SGCG):c.702+1G>A	SGCG	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 555343	NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del)	SGCG	Deletion (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 554046	NM_000231.3(SGCG):c.721del (p.Thr241fs)	SGCG (T241fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 556967	NM_000231.3(SGCG):c.727_728del (p.Cys243fs)	SGCG (C243fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 555584	NM_000231.3(SGCG):c.768del (p.Ser257fs)	SGCG (S257fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 2009	NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)	SGCG (E263K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 552513	NM_000231.3(SGCG):c.800_801del (p.Cys267fs)	SGCG (C267fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GPathogenic/Likely pathogenic
Select item 551584	NM_000231.2(SGCG):c.[800G>C;801T>C]	SGCG (C267S +1 more)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance

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Items: 21