6444[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 156996	NC_000005.10:g.156050857_156057228del	SGCD	Deletion (genic upstream transcript variant)	Large for gestational age +1 more	Gnot provided
Select item 1695144	NC_000005.10:g.156117876A>G	SGCD	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 556599	NM_000337.5(SGCD):c.-626_-616del	SGCD	Deletion (genic upstream transcript variant)	not provided +2 more	GBenign/Likely benign
Select item 1183373	NC_000005.10:g.156326739C>A	SGCD	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 48113	NC_000005.10:g.156326864A>T	SGCD	Single nucleotide variant (genic upstream transcript variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 165220	NM_000337.6(SGCD):c.-404G>A	SGCD	Single nucleotide variant (genic upstream transcript variant)	Dilated cardiomyopathy 1L +4 more	GLikely benign
Select item 178658	NC_000005.10:g.156326898G>T	SGCD	Single nucleotide variant (genic upstream transcript variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 1247592	NC_000005.10:g.156326901A>G	SGCD	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 48112	NC_000005.10:g.156326904C>G	SGCD	Single nucleotide variant (genic upstream transcript variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 165222	NC_000005.10:g.156326924T>C	SGCD	Single nucleotide variant (genic upstream transcript variant)	Qualitative or quantitative defects of delta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
Select item 905224	NM_000337.5(SGCD):c.-335T>G	SGCD	Single nucleotide variant (genic upstream transcript variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 48111	NC_000005.10:g.156326973A>T	SGCD	Single nucleotide variant (genic upstream transcript variant)	Limb-girdle muscular dystrophy, recessive +5 more	GBenign/Likely benign
Select item 1294203	NC_000005.10:g.156327060C>G	SGCD	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 48110	NC_000005.10:g.156327097A>G	SGCD	Single nucleotide variant (genic upstream transcript variant)	Limb-girdle muscular dystrophy, recessive +5 more	GBenign/Likely benign
Select item 178835	NC_000005.10:g.156327128_156327154del	SGCD	Deletion (genic upstream transcript variant)	not specified	Gnot provided
Select item 558030	NM_000337.5(SGCD):c.-139dup	SGCD	Duplication (genic upstream transcript variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 352330	NM_000337.5(SGCD):c.-135C>T	SGCD	Single nucleotide variant (genic upstream transcript variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GConflicting classifications of pathogenicity
Select item 48114	NM_000337.6(SGCD):c.-94C>G	SGCD	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign
Select item 387039	NM_000337.6(SGCD):c.-80G>T	SGCD	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 177991	NM_000337.6(SGCD):c.-59G>A	SGCD	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1L +1 more	GConflicting classifications of pathogenicity
Select item 555052	NM_000337.6(SGCD):c.-44+1_-44+2dup	SGCD	Duplication (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 165225	NM_000337.6(SGCD):c.-44G>T	SGCD	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 557336	NM_000337.6(SGCD):c.-44+1G>C	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 552679	NM_000337.6(SGCD):c.-44+1G>A	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 556922	NM_000337.6(SGCD):c.-44+2T>G	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 554848	NM_000337.6(SGCD):c.-44+2T>A	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 511093	NM_000337.6(SGCD):c.-44+11_-44+13del	SGCD	Deletion (intron variant)	not specified	GLikely benign
Select item 179031	NM_000337.6(SGCD):c.-44+11G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GConflicting classifications of pathogenicity
Select item 670058	NM_000337.6(SGCD):c.-43-245A>G	SGCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672529	NM_000337.6(SGCD):c.-43-130G>A	SGCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 191774	NM_000337.6(SGCD):c.-43-1G>A	SGCD	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GUncertain significance
Select item 165227	NM_000337.6(SGCD):c.-41A>T	SGCD	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	Gnot provided
Select item 352331	NM_000337.6(SGCD):c.-30G>A	SGCD	Single nucleotide variant (5 prime UTR variant +1 more)	Qualitative or quantitative defects of delta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
Select item 513134	NM_000337.6(SGCD):c.-13G>T	SGCD	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 549998	NM_000337.6(SGCD):c.1A>G (p.Met1Val)	SGCD (M1V)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GUncertain significance
Select item 1067099	NM_000337.6(SGCD):c.3+1G>T	SGCD	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 557704	NM_000337.6(SGCD):c.3+1G>A	SGCD	Single nucleotide variant (splice donor variant +1 more)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 556722	NM_000337.6(SGCD):c.3+2T>A	SGCD	Single nucleotide variant (splice donor variant +1 more)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 947854	NM_000337.6(SGCD):c.3+3G>C	SGCD	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2682910	NM_000337.6(SGCD):c.3+5G>A	SGCD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 597387	NM_000337.6(SGCD):c.3+7A>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GConflicting classifications of pathogenicity
Select item 3041895	NM_000337.6(SGCD):c.3+8A>G	SGCD	Single nucleotide variant (intron variant)	SGCD-related disorder	GLikely benign
Select item 255869	NM_000337.6(SGCD):c.3+11C>T	SGCD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1L +2 more	GBenign/Likely benign
Select item 2164012	NM_000337.6(SGCD):c.3+13C>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1903176	NM_000337.6(SGCD):c.3+13C>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2867231	NM_000337.6(SGCD):c.3+16del	SGCD	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1651794	NM_000337.6(SGCD):c.3+14G>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1608553	NM_000337.6(SGCD):c.3+14G>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 506908	NM_000337.6(SGCD):c.3+14G>A	SGCD	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1941262	NM_000337.6(SGCD):c.3+15G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2016463	NM_000337.6(SGCD):c.3+17A>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1570109	NM_000337.6(SGCD):c.3+19C>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 255870	NM_000337.6(SGCD):c.3+19C>T	SGCD	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 2736398	NM_000337.6(SGCD):c.3+20G>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 139100	NM_000337.6(SGCD):c.3+20G>A	SGCD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 673618	NM_000337.6(SGCD):c.3+152C>T	SGCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673703	NM_000337.6(SGCD):c.3+248C>T	SGCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272201	NM_000337.6(SGCD):c.3+285A>G	SGCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675240	NM_000337.6(SGCD):c.4-169A>C	SGCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672039	NM_000337.6(SGCD):c.4-143A>G	SGCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675241	NM_000337.6(SGCD):c.4-121G>A	SGCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239922	NM_000337.6(SGCD):c.4-69dup	SGCD	Duplication (intron variant)	not provided	GBenign
Select item 673083	NM_000337.6(SGCD):c.4-41G>T	SGCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829833	NM_000337.6(SGCD):c.4-14C>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1580198	NM_000337.6(SGCD):c.4-13T>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 178975	NM_000337.6(SGCD):c.4-12C>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GConflicting classifications of pathogenicity
Select item 2141492	NM_000337.6(SGCD):c.4-11G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1572269	NM_000337.6(SGCD):c.4-11G>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1136483	NM_000337.6(SGCD):c.4-7A>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1971610	NM_000337.6(SGCD):c.4-1G>C	SGCD	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely pathogenic
Select item 583211	NM_000337.6(SGCD):c.4-1G>T	SGCD	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1L +1 more	GLikely pathogenic
Select item 532691	NM_000337.6(SGCD):c.4-1G>A	SGCD	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 501190	NM_000337.6(SGCD):c.8C>T (p.Pro3Leu)	SGCD (P3L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123794	NM_000337.6(SGCD):c.9T>C (p.Pro3=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1455950	NM_000337.6(SGCD):c.10C>T (p.Gln4Ter)	SGCD (Q4* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GPathogenic
Select item 2678702	NM_000337.6(SGCD):c.18_37del (p.Gln6fs)	SGCD (Q5fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2166727	NM_000337.6(SGCD):c.15G>A (p.Glu5=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 202085	NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)	SGCD (E5D +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 565451	NM_000337.6(SGCD):c.19T>C (p.Tyr7His)	SGCD (Y7H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 500020	NM_000337.6(SGCD):c.22A>G (p.Thr8Ala)	SGCD (T8A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684822	NM_000337.6(SGCD):c.25C>T (p.His9Tyr)	SGCD (H8Y +1 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +4 more	GUncertain significance
Select item 1444818	NM_000337.6(SGCD):c.28C>T (p.His10Tyr)	SGCD (H10Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 1728780	NM_000337.6(SGCD):c.31C>G (p.Arg11Gly)	SGCD (R10G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1358322	NM_000337.6(SGCD):c.31C>T (p.Arg11Trp)	SGCD (R11W +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 196256	NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)	SGCD (R11Q +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GUncertain significance
Select item 2124884	NM_000337.6(SGCD):c.33G>A (p.Arg11=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1010739	NM_000337.6(SGCD):c.35G>A (p.Ser12Asn)	SGCD (S11N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 3231258	NM_000337.6(SGCD):c.38C>G (p.Thr13Ser)	SGCD (T12S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1040476	NM_000337.6(SGCD):c.38C>T (p.Thr13Ile)	SGCD (T13I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 2200686	NM_000337.6(SGCD):c.40A>G (p.Met14Val)	SGCD (M13V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 2195302	NM_000337.6(SGCD):c.41T>C (p.Met14Thr)	SGCD (M13T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 1305504	NM_000337.6(SGCD):c.42G>T (p.Met14Ile)	SGCD (M13I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 179738	NM_000337.6(SGCD):c.45T>A (p.Pro15=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GConflicting classifications of pathogenicity
Select item 1936776	NM_000337.6(SGCD):c.47G>A (p.Gly16Asp)	SGCD (G16D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 3007107	NM_000337.6(SGCD):c.48C>T (p.Gly16=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1746033	NM_000337.6(SGCD):c.51T>C (p.Ser17=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign

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