SGCA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 1179547	NC_000017.11:g.50165951C>A	SGCA	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign/Likely benign
Select item 324037	NM_000023.4(SGCA):c.-31T>C	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 324038	NM_000023.4(SGCA):c.-28C>T	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 389559	NM_000023.4(SGCA):c.-23C>T	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 892407	NM_000023.4(SGCA):c.-19C>T	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 324039	NM_000023.4(SGCA):c.-18G>A	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy +1 more	GUncertain significance
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)	Sarcoglycanopathy +3 more	GBenign
Select item 324040	NM_000023.4(SGCA):c.-5C>G	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy +2 more	GUncertain significance
Select item 371228	NM_000023.4(SGCA):c.-1_9del (p.Met1fs)	SGCA (M1fs)	Deletion (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 1705242	NM_000023.4(SGCA):c.1A>G (p.Met1Val)	SGCA (M1V)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1443684	NM_000023.4(SGCA):c.13C>G (p.Leu5Val)	SGCA (L5V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 1617498	NM_000023.4(SGCA):c.18C>T (p.Phe6=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
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 2821596	NM_000023.4(SGCA):c.29_33del (p.Leu10fs)	SGCA (L10fs)	Microsatellite (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic
Select item 843937	NM_000023.4(SGCA):c.26dup (p.Leu10fs)	SGCA (L10fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic
Select item 2196470	NM_000023.4(SGCA):c.28C>T (p.Leu10Phe)	SGCA (L10F)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2829332	NM_000023.4(SGCA):c.30C>G (p.Leu10=)	SGCA	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 705679	NM_000023.4(SGCA):c.33C>T (p.Leu11=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286013	NM_000023.4(SGCA):c.34G>A (p.Val12Met)	SGCA (V12M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1704211	NM_000023.4(SGCA):c.37G>A (p.Val13Ile)	SGCA (V13I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2707194	NM_000023.4(SGCA):c.37+1G>T	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2585416	NM_000023.4(SGCA):c.37+1G>A	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 1066846	NM_000023.4(SGCA):c.37+1G>C	SGCA	Single nucleotide variant (splice donor variant)	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 449763	NM_000023.4(SGCA):c.37+3A>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 2500952	NM_000023.4(SGCA):c.37+5G>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
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 +1 more	GUncertain significance
Select item 796441	NM_000023.4(SGCA):c.37+8G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 1079253	NM_000023.4(SGCA):c.37+9G>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 596004	NM_000023.4(SGCA):c.37+10G>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 1909522	NM_000023.4(SGCA):c.37+11G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 1575536	NM_000023.4(SGCA):c.37+17T>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2744057	NM_000023.4(SGCA):c.37+20A>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 254719	NM_000023.4(SGCA):c.37+23G>A	SGCA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 669838	NM_000023.4(SGCA):c.37+66C>T	SGCA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 673966	NM_000023.4(SGCA):c.37+290G>A	SGCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684353	NM_000023.4(SGCA):c.37+298G>A	SGCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235562	NM_000023.4(SGCA):c.38-337C>T	SGCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225133	NM_000023.4(SGCA):c.38-337C>A	SGCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669839	NM_000023.4(SGCA):c.38-198C>G	SGCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677622	NM_000023.4(SGCA):c.38-96C>T	SGCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 496854	NM_000023.4(SGCA):c.38-46G>C	SGCA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2846005	NM_000023.4(SGCA):c.38-14del	SGCA	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2065591	NM_000023.4(SGCA):c.38-14T>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 1564169	NM_000023.4(SGCA):c.38-10G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 1110860	NM_000023.4(SGCA):c.38-8C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 752362	NM_000023.4(SGCA):c.38-7C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 1157080	NM_000023.4(SGCA):c.45G>C (p.Leu15=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 538663	NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)	SGCA (G17R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 471334	NM_000023.4(SGCA):c.52C>G (p.Leu18Val)	SGCA (L18V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2036730	NM_000023.4(SGCA):c.56G>A (p.Gly19Glu)	SGCA (G19E)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 1551237	NM_000023.4(SGCA):c.57G>A (p.Gly19=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 594619	NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr)	SGCA (D20Y)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 471336	NM_000023.4(SGCA):c.58G>A (p.Asp20Asn)	SGCA (D20N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 1217321	NM_000023.4(SGCA):c.61_62insG (p.Thr21fs)	SGCA (T21fs)	Insertion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 254720	NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)	SGCA (T21I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GConflicting classifications of pathogenicity
Select item 538664	NM_000023.4(SGCA):c.63C>T (p.Thr21=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 966718	NM_000023.4(SGCA):c.64G>A (p.Glu22Lys)	SGCA (E22K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2430699	NM_000023.4(SGCA):c.68C>A (p.Ala23Asp)	SGCA (A23D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1597922	NM_000023.4(SGCA):c.72G>A (p.Gln24=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 283448	NM_000023.4(SGCA):c.80C>T (p.Thr27Met)	SGCA (T27M)	Single nucleotide variant (missense variant +1 more)	Sarcoglycanopathy +2 more	GConflicting classifications of pathogenicity
Select item 1081596	NM_000023.4(SGCA):c.81G>A (p.Thr27=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 1079249	NM_000023.4(SGCA):c.82C>T (p.Leu28=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2445910	NM_000023.4(SGCA):c.85dup (p.His29fs)	SGCA (H29fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1726835	NM_000023.4(SGCA):c.84_90del (p.His29fs)	SGCA (H29fs)	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 498950	NM_000023.4(SGCA):c.85C>T (p.His29Tyr)	SGCA (H29Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 617535	NM_000023.4(SGCA):c.86A>T (p.His29Leu)	SGCA (H29L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 707754	NM_000023.4(SGCA):c.87C>T (p.His29=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 471339	NM_000023.4(SGCA):c.88C>T (p.Pro30Ser)	SGCA (P30S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 285929	NM_000023.4(SGCA):c.89C>T (p.Pro30Leu)	SGCA (P30L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 1148621	NM_000023.4(SGCA):c.90A>C (p.Pro30=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 734472	NM_000023.4(SGCA):c.90A>G (p.Pro30=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
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 1619766	NM_000023.4(SGCA):c.93T>G (p.Leu31=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
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 1132037	NM_000023.4(SGCA):c.99C>T (p.Gly33=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 1498501	NM_000023.4(SGCA):c.100C>A (p.Arg34Ser)	SGCA (R34S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely 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)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic
Select item 2055288	NM_000023.4(SGCA):c.103G>A (p.Val35Ile)	SGCA (V35I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 1453713	NM_000023.4(SGCA):c.105del (p.Phe36fs)	SGCA (F36fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic
Select item 1007825	NM_000023.4(SGCA):c.106T>G (p.Phe36Val)	SGCA (F36V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 1674996	NM_000023.4(SGCA):c.108T>C (p.Phe36=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 593205	NM_000023.4(SGCA):c.111G>A (p.Val37=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1180730	NM_000023.4(SGCA):c.113A>G (p.His38Arg)	SGCA (H38R)	Single nucleotide variant (missense variant +1 more)	Abnormality of the musculature	GLikely pathogenic
Select item 811177	NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)	SGCA (T39A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 593203	NM_000023.4(SGCA):c.115_116insT (p.Thr39fs)	SGCA (T39fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1726829	NM_000023.4(SGCA):c.119del (p.Leu40fs)	SGCA (L40fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 755316	NM_000023.4(SGCA):c.118T>C (p.Leu40=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 1095707	NM_000023.4(SGCA):c.129G>A (p.Glu43=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign

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