ClinVar for MedGen (Select 441533) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9079991.	NM_000337.6(SGCD):c.*4972A>C GRCh37: Chr5:156191373 GRCh38: Chr5:156764362	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9079982.	NM_000337.6(SGCD):c.*4935C>T GRCh37: Chr5:156191336 GRCh38: Chr5:156764325	SGCD		Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9079973.	NM_000337.6(SGCD):c.*4786G>A GRCh37: Chr5:156191187 GRCh38: Chr5:156764176	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9079964.	NM_000337.6(SGCD):c.*4696G>A GRCh37: Chr5:156191097 GRCh38: Chr5:156764086	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9079255.	NM_000337.6(SGCD):c.*2944G>C GRCh37: Chr5:156189345 GRCh38: Chr5:156762334	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9079246.	NM_000337.6(SGCD):c.*2814G>A GRCh37: Chr5:156189215 GRCh38: Chr5:156762204	SGCD		Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9079237.	NM_000337.6(SGCD):c.*2797A>T GRCh37: Chr5:156189198 GRCh38: Chr5:156762187	SGCD		Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9079228.	NM_000337.6(SGCD):c.*2720G>A GRCh37: Chr5:156189121 GRCh38: Chr5:156762110	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9078639.	NM_000337.6(SGCD):c.*1358A>C GRCh37: Chr5:156187759 GRCh38: Chr5:156760748	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90786210.	NM_000337.6(SGCD):c.*1283C>T GRCh37: Chr5:156187684 GRCh38: Chr5:156760673	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90786111.	NM_000337.6(SGCD):c.*1047C>T GRCh37: Chr5:156187448 GRCh38: Chr5:156760437	SGCD		Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90786012.	NM_000337.6(SGCD):c.*1037C>G GRCh37: Chr5:156187438 GRCh38: Chr5:156760427	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90785913.	NM_000337.6(SGCD):c.*944C>G GRCh37: Chr5:156187345 GRCh38: Chr5:156760334	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90780814.	NM_000337.6(SGCD):c.661T>A (p.Cys221Ser) GRCh37: Chr5:156184677 GRCh38: Chr5:156757666	SGCD	C220S, C221S	Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90780715.	NM_000337.6(SGCD):c.209T>C (p.Leu70Pro) GRCh37: Chr5:155935627 GRCh38: Chr5:156508617	SGCD	L69P, L70P	Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90707016.	NM_000337.6(SGCD):c.*7566C>T GRCh37: Chr5:156193967 GRCh38: Chr5:156766956	SGCD		Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90701417.	NM_000337.6(SGCD):c.*6504T>C GRCh37: Chr5:156192905 GRCh38: Chr5:156765894	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90701318.	NM_000337.6(SGCD):c.*6261T>A GRCh37: Chr5:156192662 GRCh38: Chr5:156765651	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90701219.	NM_000337.6(SGCD):c.*6186C>T GRCh37: Chr5:156192587 GRCh38: Chr5:156765576	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90701120.	NM_000337.6(SGCD):c.*6133A>G GRCh37: Chr5:156192534 GRCh38: Chr5:156765523	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90701021.	NM_000337.6(SGCD):c.*6127G>A GRCh37: Chr5:156192528 GRCh38: Chr5:156765517	SGCD		Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90694922.	NM_000337.6(SGCD):c.*2521T>G GRCh37: Chr5:156188922 GRCh38: Chr5:156761911	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90694823.	NM_000337.6(SGCD):c.*2476A>G GRCh37: Chr5:156188877 GRCh38: Chr5:156761866	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90687324.	NM_000337.6(SGCD):c.*882G>A GRCh37: Chr5:156187283 GRCh38: Chr5:156760272	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90687225.	NM_000337.6(SGCD):c.*817A>C GRCh37: Chr5:156187218 GRCh38: Chr5:156760207	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Apr 20, 2018)	criteria provided, single submitter
Select item 90687126.	NM_000337.6(SGCD):c.*561T>C GRCh37: Chr5:156186962 GRCh38: Chr5:156759951	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90598827.	NM_000337.6(SGCD):c.*6064A>G GRCh37: Chr5:156192465 GRCh38: Chr5:156765454	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90598728.	NM_000337.6(SGCD):c.*5884A>G GRCh37: Chr5:156192285 GRCh38: Chr5:156765274	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90593029.	NM_000337.6(SGCD):c.*4451G>C GRCh37: Chr5:156190852 GRCh38: Chr5:156763841	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90561330.	NM_000337.6(SGCD):c.*8356T>A GRCh37: Chr5:156194757 GRCh38: Chr5:156767746	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90561231.	NM_000337.6(SGCD):c.*8351C>T GRCh37: Chr5:156194752 GRCh38: Chr5:156767741	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90555432.	NM_000337.6(SGCD):c.*7022G>A GRCh37: Chr5:156193423 GRCh38: Chr5:156766412	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90555333.	NM_000337.6(SGCD):c.*6985C>T GRCh37: Chr5:156193386 GRCh38: Chr5:156766375	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90555234.	NM_000337.6(SGCD):c.*6875G>A GRCh37: Chr5:156193276 GRCh38: Chr5:156766265	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90548035.	NM_000337.6(SGCD):c.*5819G>T GRCh37: Chr5:156192220 GRCh38: Chr5:156765209	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90547936.	NM_000337.6(SGCD):c.*5739A>T GRCh37: Chr5:156192140 GRCh38: Chr5:156765129	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90547837.	NM_000337.6(SGCD):c.*5415G>C GRCh37: Chr5:156191816 GRCh38: Chr5:156764805	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90534538.	NM_000337.6(SGCD):c.*2166A>T GRCh37: Chr5:156188567 GRCh38: Chr5:156761556	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90534439.	NM_000337.6(SGCD):c.*2152T>C GRCh37: Chr5:156188553 GRCh38: Chr5:156761542	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90534340.	NM_000337.6(SGCD):c.*2139C>T GRCh37: Chr5:156188540 GRCh38: Chr5:156761529	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90534241.	NM_000337.6(SGCD):c.*2089T>G GRCh37: Chr5:156188490 GRCh38: Chr5:156761479	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90534142.	NM_000337.6(SGCD):c.*2004G>T GRCh37: Chr5:156188405 GRCh38: Chr5:156761394	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90534043.	NM_000337.6(SGCD):c.*1990C>T GRCh37: Chr5:156188391 GRCh38: Chr5:156761380	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90533944.	NM_000337.6(SGCD):c.*1907G>A GRCh37: Chr5:156188308 GRCh38: Chr5:156761297	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90533845.	NM_000337.6(SGCD):c.*1906C>G GRCh37: Chr5:156188307 GRCh38: Chr5:156761296	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90527346.	NM_000337.6(SGCD):c.*535C>T GRCh37: Chr5:156186936 GRCh38: Chr5:156759925	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90527247.	NM_000337.6(SGCD):c.*440G>A GRCh37: Chr5:156186841 GRCh38: Chr5:156759830	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90527148.	NM_000337.6(SGCD):c.*173T>G GRCh37: Chr5:156186574 GRCh38: Chr5:156759563	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 90522449.	NM_000337.5(SGCD):c.-335T>G GRCh37: Chr5:155753951 GRCh38: Chr5:156326941	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90476650.	NM_000337.6(SGCD):c.*6664C>T GRCh37: Chr5:156193065 GRCh38: Chr5:156766054	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90476551.	NM_000337.6(SGCD):c.*6636G>A GRCh37: Chr5:156193037 GRCh38: Chr5:156766026	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90476452.	NM_000337.6(SGCD):c.*6547G>A GRCh37: Chr5:156192948 GRCh38: Chr5:156765937	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90476353.	NM_000337.6(SGCD):c.*6518C>T GRCh37: Chr5:156192919 GRCh38: Chr5:156765908	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90468754.	NM_000337.6(SGCD):c.*5197T>C GRCh37: Chr5:156191598 GRCh38: Chr5:156764587	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90462155.	NM_000337.6(SGCD):c.*3580G>A GRCh37: Chr5:156189981 GRCh38: Chr5:156762970	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90454756.	NM_000337.6(SGCD):c.*1888G>A GRCh37: Chr5:156188289 GRCh38: Chr5:156761278	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90454657.	NM_000337.6(SGCD):c.*1877G>T GRCh37: Chr5:156188278 GRCh38: Chr5:156761267	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90454558.	NM_000337.6(SGCD):c.*1788G>A GRCh37: Chr5:156188189 GRCh38: Chr5:156761178	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90454459.	NM_000337.6(SGCD):c.*1578T>C GRCh37: Chr5:156187979 GRCh38: Chr5:156760968	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90448960.	NM_000337.6(SGCD):c.699+15G>A GRCh37: Chr5:156184730 GRCh38: Chr5:156757719	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90369861.	NM_000337.6(SGCD):c.*8346G>A GRCh37: Chr5:156194747 GRCh38: Chr5:156767736	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90369762.	NM_000337.6(SGCD):c.*8239C>T GRCh37: Chr5:156194640 GRCh38: Chr5:156767629	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90369663.	NM_000337.6(SGCD):c.*8239C>G GRCh37: Chr5:156194640 GRCh38: Chr5:156767629	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90369564.	NM_000337.6(SGCD):c.*8112A>C GRCh37: Chr5:156194513 GRCh38: Chr5:156767502	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90369465.	NM_000337.6(SGCD):c.*8071A>G GRCh37: Chr5:156194472 GRCh38: Chr5:156767461	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90369366.	NM_000337.6(SGCD):c.*8041T>C GRCh37: Chr5:156194442 GRCh38: Chr5:156767431	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90369267.	NM_000337.6(SGCD):c.*7877A>T GRCh37: Chr5:156194278 GRCh38: Chr5:156767267	SGCD		Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 50690868.	NM_000337.6(SGCD):c.3+14G>A GRCh37: Chr5:155756603 GRCh38: Chr5:156329593	SGCD		Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, not specified	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 46402369.	NM_000337.6(SGCD):c.832G>A (p.Ala278Thr) GRCh37: Chr5:156186360 GRCh38: Chr5:156759349	SGCD	A278T, A277T	Qualitative or quantitative defects of delta-sarcoglycan, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 37857770.	NM_000337.6(SGCD):c.717G>A (p.Ala239=) GRCh37: Chr5:156186245 GRCh38: Chr5:156759234	SGCD		not specified, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 35245471.	NM_000337.6(SGCD):c.*8380A>G GRCh37: Chr5:156194781 GRCh38: Chr5:156767770	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35245372.	NM_000337.6(SGCD):c.*8355C>T GRCh37: Chr5:156194756 GRCh38: Chr5:156767745	SGCD		Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35245273.	NM_000337.6(SGCD):c.*8110A>C GRCh37: Chr5:156194511 GRCh38: Chr5:156767500	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35245174.	NM_000337.6(SGCD):c.8113_8114dup GRCh37: Chr5:156194495-156194496 GRCh38: Chr5:156767484-156767485	SGCD		Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35245075.	NM_000337.6(SGCD):c.*8114dup GRCh37: Chr5:156194495-156194496 GRCh38: Chr5:156767484-156767485	SGCD		Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35244976.	NM_000337.6(SGCD):c.*7871G>C GRCh37: Chr5:156194272 GRCh38: Chr5:156767261	SGCD		Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35244877.	NM_000337.6(SGCD):c.*7866G>A GRCh37: Chr5:156194267 GRCh38: Chr5:156767256	SGCD		Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35244778.	NM_000337.6(SGCD):c.*7816G>A GRCh37: Chr5:156194217 GRCh38: Chr5:156767206	SGCD		Qualitative or quantitative defects of delta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35244679.	NM_000337.6(SGCD):c.*7815G>A GRCh37: Chr5:156194216 GRCh38: Chr5:156767205	SGCD		Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35244580.	NM_000337.6(SGCD):c.*7814C>T GRCh37: Chr5:156194215 GRCh38: Chr5:156767204	SGCD		Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35244481.	NM_000337.6(SGCD):c.*7596A>G GRCh37: Chr5:156193997 GRCh38: Chr5:156766986	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive	Benign/Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35244382.	NM_000337.6(SGCD):c.*7559G>C GRCh37: Chr5:156193960 GRCh38: Chr5:156766949	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35244283.	NM_000337.6(SGCD):c.*7521G>A GRCh37: Chr5:156193922 GRCh38: Chr5:156766911	SGCD		Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 35244184.	NM_000337.6(SGCD):c.*7507A>G GRCh37: Chr5:156193908 GRCh38: Chr5:156766897	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35244085.	NM_000337.6(SGCD):c.*7506C>G GRCh37: Chr5:156193907 GRCh38: Chr5:156766896	SGCD		Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35243986.	NM_000337.6(SGCD):c.*7489G>A GRCh37: Chr5:156193890 GRCh38: Chr5:156766879	SGCD		Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35243887.	NM_000337.6(SGCD):c.*7300C>A GRCh37: Chr5:156193701 GRCh38: Chr5:156766690	SGCD		Qualitative or quantitative defects of delta-sarcoglycan, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive	Benign/Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35243788.	NM_000337.6(SGCD):c.*7298A>C GRCh37: Chr5:156193699 GRCh38: Chr5:156766688	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35243689.	NM_000337.6(SGCD):c.*7231A>T GRCh37: Chr5:156193632 GRCh38: Chr5:156766621	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35243590.	NM_000337.6(SGCD):c.*7219G>C GRCh37: Chr5:156193620 GRCh38: Chr5:156766609	SGCD		Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35243491.	NM_000337.6(SGCD):c.*7196A>T GRCh37: Chr5:156193597 GRCh38: Chr5:156766586	SGCD		Qualitative or quantitative defects of delta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35243392.	NM_000337.6(SGCD):c.*6917C>T GRCh37: Chr5:156193318 GRCh38: Chr5:156766307	SGCD		Qualitative or quantitative defects of delta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 35243293.	NM_000337.6(SGCD):c.*6833G>A GRCh37: Chr5:156193234 GRCh38: Chr5:156766223	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35243194.	NM_000337.6(SGCD):c.*6785C>T GRCh37: Chr5:156193186 GRCh38: Chr5:156766175	SGCD		Qualitative or quantitative defects of delta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35243095.	NM_000337.6(SGCD):c.*6717G>A GRCh37: Chr5:156193118 GRCh38: Chr5:156766107	SGCD		not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan	Benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35242996.	NM_000337.6(SGCD):c.*6683T>C GRCh37: Chr5:156193084 GRCh38: Chr5:156766073	SGCD		Qualitative or quantitative defects of delta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35242897.	NM_000337.6(SGCD):c.*6665G>A GRCh37: Chr5:156193066 GRCh38: Chr5:156766055	SGCD		Qualitative or quantitative defects of delta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35242798.	NM_000337.6(SGCD):c.*6661del GRCh37: Chr5:156193062 GRCh38: Chr5:156766051	SGCD		Qualitative or quantitative defects of delta-sarcoglycan, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35242699.	NM_000337.6(SGCD):c.*6660del GRCh37: Chr5:156193046 GRCh38: Chr5:156766035	SGCD		Qualitative or quantitative defects of delta-sarcoglycan, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 352425100.	NM_000337.6(SGCD):c.*6660dup GRCh37: Chr5:156193045-156193046 GRCh38: Chr5:156766034-156766035	SGCD		Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated Cardiomyopathy, Dominant, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts

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