C2936332[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

Search results

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678676	NM_000023.4(SGCA):c.20G>A (p.Trp7Ter)	SGCA (W7*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 501790	NM_000023.4(SGCA):c.37+2C>G	SGCA	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678672	NM_000023.4(SGCA):c.37+3A>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 1068521	NM_000023.4(SGCA):c.70C>T (p.Gln24Ter)	SGCA (Q24*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 2678669	NM_000023.4(SGCA):c.71del (p.Gln24fs)	SGCA (Q24fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 861179	NM_000023.4(SGCA):c.86dup (p.His29fs)	SGCA (H29fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GPathogenic
Select item 550333	NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	SGCA (L31P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 1459652	NM_000023.4(SGCA):c.95T>C (p.Val32Ala)	SGCA (V32A)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 217250	NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	SGCA (R34C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic/Likely pathogenic
Select item 92301	NM_000023.4(SGCA):c.101G>A (p.Arg34His)	SGCA (R34H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1431913	NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)	SGCA (L46fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 281859	NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)	SGCA (A53T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 847344	NM_000023.4(SGCA):c.157+1G>A	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic
Select item 2678674	NM_000023.4(SGCA):c.157+2T>G	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 291210	NM_000023.4(SGCA):c.183dup (p.Tyr62fs)	SGCA (Y62fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic/Likely pathogenic
Select item 582221	NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)	SGCA (Y62*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 290930	NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)	SGCA (A64T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286025	NM_000023.4(SGCA):c.197T>A (p.Leu66His)	SGCA (L66H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 594552	NM_000023.4(SGCA):c.203del (p.Gly68fs)	SGCA (G68fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic/Likely pathogenic
Select item 188811	NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)	SGCA (R74W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic/Likely pathogenic
Select item 2090379	NM_000023.4(SGCA):c.229dup (p.Arg77fs)	SGCA (R77fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 9437	NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)	SGCA (R77C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GPathogenic
Select item 639468	NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter)	SGCA (Y78*)	Indel (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic
Select item 581361	NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)	SGCA (Q80fs)	Insertion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 92302	NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)	SGCA (R81C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 2678675	NM_000023.4(SGCA):c.262_269dup (p.Gly91fs)	SGCA (G91fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2429327	NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)	SGCA (Y90C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GLikely pathogenic
Select item 3240445	NM_000023.4(SGCA):c.270C>G (p.Tyr90Ter)	SGCA (Y90*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 284708	NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	SGCA (R98C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GPathogenic/Likely pathogenic
Select item 9435	NM_000023.4(SGCA):c.293G>A (p.Arg98His)	SGCA (R98H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GPathogenic/Likely pathogenic
Select item 556014	NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)	SGCA (I103T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GConflicting classifications of pathogenicity
Select item 551197	NM_000023.4(SGCA):c.313_319del (p.Val105Profs)	SGCA	Deletion (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 370642	NM_000023.4(SGCA):c.313-2A>G	SGCA	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 471332	NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)	SGCA (Q118fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic
Select item 188733	NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	SGCA (I124T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1073628	NM_000023.4(SGCA):c.377dup (p.Asp126fs)	SGCA (D126fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 3240442	NM_000023.4(SGCA):c.385+1G>T	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic
Select item 3240444	NM_000023.4(SGCA):c.385+2T>C	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678667	NM_000023.4(SGCA):c.386-1G>A	SGCA	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 284945	NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	SGCA (Y134*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3240446	NM_000023.4(SGCA):c.409G>T (p.Glu137Ter)	SGCA (E137*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 554420	NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	SGCA (E137Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 286049	NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	SGCA (E137K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic/Likely pathogenic
Select item 555272	NM_000023.4(SGCA):c.464del (p.Ser155fs)	SGCA (S155fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 370116	NM_000023.4(SGCA):c.488dup (p.Leu164fs)	SGCA (L164fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic/Likely pathogenic
Select item 2678668	NM_000023.4(SGCA):c.488_489delinsT (p.Gly163fs)	SGCA (G163fs)	Indel (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 370112	NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)	SGCA (Q171*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 281027	NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)	SGCA (L173P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 370946	NM_000023.4(SGCA):c.559del (p.Leu187fs)	SGCA (L187fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 37202	NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)	SGCA (R192*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 2678666	NM_000023.4(SGCA):c.582dup (p.Gly195fs)	SGCA (G195fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678664	NM_000023.4(SGCA):c.596del (p.Lys199fs)	SGCA (K199fs)	Deletion (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 289794	NM_000023.4(SGCA):c.614C>A (p.Pro205His)	SGCA (P205H)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285736	NM_000023.4(SGCA):c.623C>T (p.Thr208Ile)	SGCA (T208I)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 452720	NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	SGCA (R221C)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2678663	NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)	SGCA (Y233*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 3240443	NM_000023.4(SGCA):c.704C>T (p.Thr235Ile)	SGCA (T235I)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 471337	NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	SGCA (V242F)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 2678671	NM_000023.4(SGCA):c.725T>C (p.Val242Ala)	SGCA (V242A)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 167677	NM_000023.4(SGCA):c.739G>A (p.Val247Met)	SGCA (V247M)	Single nucleotide variant (missense variant +2 more)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 286436	NM_000023.4(SGCA):c.747+1G>A	SGCA	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371575	NM_000023.4(SGCA):c.754_755del (p.Lys252fs)	SGCA (K252fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 2678678	NM_000023.4(SGCA):c.762del (p.Pro255fs)	SGCA (P255fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678670	NM_000023.4(SGCA):c.794del (p.Gly265fs)	SGCA (G265fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 852690	NM_000023.4(SGCA):c.801dup (p.Ile268fs)	SGCA (I268fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 9439	NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	SGCA (R284C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +4 more	GPathogenic/Likely pathogenic
Select item 555841	NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)	SGCA (Y310fs)	Deletion (frameshift variant +1 more)	Qualitative or quantitative defects of alpha-sarcoglycan +1 more	GConflicting classifications of pathogenicity
Select item 1066710	NM_000023.4(SGCA):c.957-1G>T	SGCA	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 2678677	NM_000023.4(SGCA):c.960_961insTC (p.Lys321fs)	SGCA (K197fs +1 more)	Insertion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 191294	NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)	SGCA (D204fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 3240447	NM_000023.4(SGCA):c.983+5G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678673	NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)	SGCA (E218fs +1 more)	Microsatellite (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 595224	NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)	SGCA (A224fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678679	NM_000023.4(SGCA):c.1052del (p.Arg351fs)	SGCA (R227fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic

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Items: 74