"GeneDx"[submitter] AND "SGCG"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 58233	GRCh38/hg38 13q12.12(chr13:22672788-23489498)x3	LINC00327, LINC00362 +21 more	Copy number gain	See cases	GUncertain significance
Select item 145023	GRCh38/hg38 13q12.12(chr13:22943845-23221349)x3	LINC00362, LOC132090177 +3 more	Copy number gain	See cases	GBenign
Select item 59440	GRCh38/hg38 13q12.12(chr13:22992823-23499449)x1	LINC00327, LINC00362 +16 more	Copy number loss	See cases	GUncertain significance
Select item 58234	GRCh38/hg38 13q12.12(chr13:23172478-23671209)x3	LINC00327, LOC130009362 +23 more	Copy number gain	See cases	GUncertain significance
Select item 311478	NM_000231.3(SGCG):c.-88G>A	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	Limb-girdle muscular dystrophy, recessive +2 more	GBenign/Likely benign
Select item 311479	NM_000231.3(SGCG):c.-6T>C	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1326619	NM_000231.3(SGCG):c.-1+219T>C	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193684	NM_000231.3(SGCG):c.1-279A>T	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206684	NM_000231.3(SGCG):c.1-244T>G	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188460	NM_000231.3(SGCG):c.1-174A>C	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201163	NM_000231.3(SGCG):c.1-92C>T	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 283890	NM_000231.3(SGCG):c.1-8C>T	SGCG	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 291214	NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys)	SGCG (Y6C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1307986	NM_000231.3(SGCG):c.84T>G (p.Ile28Met)	SGCG (I28M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307653	NM_000231.3(SGCG):c.150T>A (p.Asn50Lys)	SGCG (N50K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 461622	NM_000231.3(SGCG):c.157C>T (p.Leu53Phe)	SGCG (L53F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 288578	NM_000231.3(SGCG):c.161C>A (p.Thr54Lys)	SGCG (T54K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
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 1197935	NM_000231.3(SGCG):c.195+151A>G	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671792	NM_000231.3(SGCG):c.196-300C>G	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195746	NM_000231.3(SGCG):c.196-283dup	SGCG	Duplication (intron variant)	not provided	GLikely benign
Select item 684354	NM_000231.3(SGCG):c.196-282A>T	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684355	NM_000231.3(SGCG):c.196-281A>T	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671718	NM_000231.3(SGCG):c.196-197G>C	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678210	NM_000231.3(SGCG):c.196-125_196-124insTTTA	SGCG	Insertion (intron variant)	not provided	GBenign
Select item 1193695	NM_000231.3(SGCG):c.196-125_196-124insTTCA	SGCG	Insertion (intron variant)	not provided	GLikely benign
Select item 1205622	NM_000231.3(SGCG):c.196-28C>T	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 389227	NM_000231.3(SGCG):c.196-16T>C	SGCG	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 92653	NM_000231.3(SGCG):c.228T>C (p.Asp76=)	SGCG	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign/Likely benign
Select item 285054	NM_000231.3(SGCG):c.235C>T (p.Arg79Cys)	SGCG (R79C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 281288	NM_000231.3(SGCG):c.267A>G (p.Pro89=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GConflicting classifications of pathogenicity
Select item 671719	NM_000231.3(SGCG):c.297+63A>C	SGCG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1200407	NM_000231.3(SGCG):c.297+102C>T	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260576	NM_000231.3(SGCG):c.297+108C>T	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220002	NM_000231.3(SGCG):c.297+132T>G	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189263	NM_000231.3(SGCG):c.297+304T>A	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672504	NM_000231.3(SGCG):c.298-248del	SGCG	Deletion (intron variant)	not provided	GBenign
Select item 92654	NM_000231.3(SGCG):c.312T>G (p.Leu104=)	SGCG	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign
Select item 92655	NM_000231.3(SGCG):c.347G>A (p.Arg116His)	SGCG (R116H +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign/Likely benign
Select item 1268288	NM_000231.3(SGCG):c.385+147C>A	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242863	NM_000231.3(SGCG):c.385+164G>A	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223798	NM_000231.3(SGCG):c.386-104C>G	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255601	NM_000231.3(SGCG):c.386-30A>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GBenign
Select item 499103	NM_000231.3(SGCG):c.414A>G (p.Gln138=)	SGCG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130295	NM_000231.3(SGCG):c.435C>T (p.Asn145=)	SGCG	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 510270	NM_000231.3(SGCG):c.505+15G>A	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GConflicting classifications of pathogenicity
Select item 255602	NM_000231.3(SGCG):c.505+46T>A	SGCG	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1177521	NM_000231.3(SGCG):c.505+83G>T	SGCG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1282793	NM_000231.3(SGCG):c.505+126_505+139del	SGCG	Deletion (intron variant)	not provided	GBenign
Select item 670551	NM_000231.3(SGCG):c.505+149T>C	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684356	NM_000231.3(SGCG):c.505+335T>C	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 285235	NM_000231.3(SGCG):c.506-7T>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GConflicting classifications of pathogenicity
Select item 282170	NM_000231.3(SGCG):c.507G>T (p.Gly169=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GConflicting classifications of pathogenicity
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 670553	NM_000231.3(SGCG):c.578+145G>C	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209395	NM_000231.3(SGCG):c.578+244C>T	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684357	NM_000231.3(SGCG):c.578+281T>C	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295733	NM_000231.3(SGCG):c.579-23dup	SGCG	Duplication (intron variant)	not provided	GBenign
Select item 1266373	NM_000231.3(SGCG):c.579-24_579-23dup	SGCG	Duplication (intron variant)	not provided	GBenign
Select item 1216416	NM_000231.3(SGCG):c.579-25_579-23dup	SGCG	Duplication (intron variant)	not provided	GLikely benign
Select item 1266670	NM_000231.3(SGCG):c.579-23del	SGCG	Deletion (intron variant)	not provided	GBenign
Select item 1188096	NM_000231.3(SGCG):c.579-34T>G	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257307	NM_000231.3(SGCG):c.579-32T>G	SGCG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1237426	NM_000231.3(SGCG):c.579-30T>G	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234807	NM_000231.3(SGCG):c.579-28T>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GBenign
Select item 1245476	NM_000231.3(SGCG):c.579-26T>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GBenign
Select item 1243106	NM_000231.3(SGCG):c.579-24T>G	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GBenign
Select item 1197092	NM_000231.3(SGCG):c.579-22dup	SGCG	Duplication (intron variant)	not provided	GLikely benign
Select item 420518	NM_000231.3(SGCG):c.579-21_579-20del	SGCG	Microsatellite (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 670063	NM_000231.3(SGCG):c.579-22del	SGCG	Deletion (intron variant)	not provided	GBenign
Select item 255603	NM_000231.3(SGCG):c.579-22G>T	SGCG	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1210746	NM_000231.3(SGCG):c.579-10C>T	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GLikely benign
Select item 512333	NM_000231.3(SGCG):c.579-6T>C	SGCG	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 285130	NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)	SGCG (R199Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1311849	NM_000231.3(SGCG):c.622G>A (p.Gly208Ser)	SGCG (G208S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668955	NM_000231.3(SGCG):c.702+252G>T	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186263	NM_000231.3(SGCG):c.702+287C>T	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668960	NM_000231.3(SGCG):c.702+326C>T	SGCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672635	NM_000231.3(SGCG):c.702+331C>T	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193068	NM_000231.3(SGCG):c.703-233G>A	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213219	NM_000231.3(SGCG):c.703-142G>A	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670065	NM_000231.3(SGCG):c.703-53C>T	SGCG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 92656	NM_000231.3(SGCG):c.703-18T>C	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GBenign
Select item 3365909	NM_000231.3(SGCG):c.703_705delinsTTC (p.Leu235Phe)	SGCG (L235F +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 92657	NM_000231.3(SGCG):c.705T>C (p.Leu235=)	SACS, SGCG	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy, recessive +5 more	GBenign/Likely benign
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 255604	NM_000231.3(SGCG):c.860= (p.Asn287=)	SGCG (S287N)	Single nucleotide variant (no sequence alteration)	not provided +2 more	GBenign
Select item 255599	NM_000231.3(SGCG):c.*10G>A	SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy +3 more	GConflicting classifications of pathogenicity
Select item 92652	NM_000231.3(SGCG):c.*13C>T	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +5 more	GBenign/Likely benign
Select item 883804	NM_000231.3(SGCG):c.*54C>T	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 1215707	NM_000231.3(SGCG):c.113_127del	SGCG	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 311484	NM_000231.3(SGCG):c.*136T>C	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia +4 more	GBenign/Likely benign
Select item 311483	NM_000231.3(SGCG):c.*136T>A	SGCG	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 311485	NM_000231.3(SGCG):c.*185G>A	SGCG	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288428	NM_000231.3(SGCG):c.*254G>A	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	not specified +5 more	GBenign/Likely benign
Select item 311486	NM_000231.3(SGCG):c.*295T>C	SGCG, SACS	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign/Likely benign
Select item 881920	NM_000231.3(SGCG):c.*296G>A	SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy +1 more	GBenign/Likely benign

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