ClinVar for MedGen (Select 424706) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792131.	GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0 GRCh38: Chr17:50169242-50170421	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Aug 24, 2023)	criteria provided, single submitter
Select item 25009522.	NM_000023.4(SGCA):c.37+5G>T GRCh37: Chr17:48243443 GRCh38: Chr17:50166082	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 24443703.	NM_000023.4(SGCA):c.696C>G (p.Cys232Trp) GRCh37: Chr17:48246564 GRCh38: Chr17:50169203	SGCA	C232W	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24358924.	NM_000023.4(SGCA):c.760G>T (p.Val254Leu) GRCh37: Chr17:48247516 GRCh38: Chr17:50170155	SGCA	V254L	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 24358915.	NM_000023.4(SGCA):c.304G>T (p.Val102Phe) GRCh37: Chr17:48245089 GRCh38: Chr17:50167728	SGCA	V102F	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Jan 11, 2019)	criteria provided, single submitter
Select item 24358906.	NM_000023.4(SGCA):c.985A>T (p.Ile329Phe) GRCh37: Chr17:48252619 GRCh38: Chr17:50175258	SGCA	I205F, I329F	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Dec 23, 2022)	criteria provided, single submitter
Select item 24358897.	NM_000023.4(SGCA):c.157G>T (p.Ala53Ser) GRCh37: Chr17:48244848 GRCh38: Chr17:50167487	SGCA	A53S	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Sep 19, 2020)	criteria provided, single submitter
Select item 24358888.	NM_000023.4(SGCA):c.749T>G (p.Val250Gly) GRCh37: Chr17:48247505 GRCh38: Chr17:50170144	SGCA	V250G	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Mar 11, 2020)	criteria provided, single submitter
Select item 24221489.	NC_000017.10:g.(?_48243336)_(48246625_?)del GRCh37: Chr17:48243336-48246625	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 242011510.	NM_000023.4(SGCA):c.542G>A (p.Arg181His) GRCh37: Chr17:48245891 GRCh38: Chr17:50168530	SGCA	R181H	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 237971911.	NM_000023.4(SGCA):c.466C>A (p.Arg156Ser) GRCh37: Chr17:48245815 GRCh38: Chr17:50168454	SGCA	R156S	Autosomal recessive limb-girdle muscular dystrophy type 2D, Inborn genetic diseases	Uncertain significance (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220036412.	NM_000023.4(SGCA):c.386-13C>T GRCh37: Chr17:48245722 GRCh38: Chr17:50168361	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 219846313.	NM_000023.4(SGCA):c.271G>A (p.Gly91Ser) GRCh37: Chr17:48245056 GRCh38: Chr17:50167695	SGCA	G91S	Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 219647014.	NM_000023.4(SGCA):c.28C>T (p.Leu10Phe) GRCh37: Chr17:48243429 GRCh38: Chr17:50166068	SGCA	L10F	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 219577115.	NM_000023.4(SGCA):c.313-18G>T GRCh37: Chr17:48245290 GRCh38: Chr17:50167929	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 219008216.	NM_000023.4(SGCA):c.956+13A>G GRCh37: Chr17:48247725 GRCh38: Chr17:50170364	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 218298017.	NM_000023.4(SGCA):c.585-29T>G GRCh37: Chr17:48246424 GRCh38: Chr17:50169063	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 218297918.	NM_000023.4(SGCA):c.585-32C>A GRCh37: Chr17:48246421 GRCh38: Chr17:50169060	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 217633119.	NM_000023.4(SGCA):c.448C>A (p.Pro150Thr) GRCh37: Chr17:48245797 GRCh38: Chr17:50168436	SGCA	P150T	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 216846220.	NM_000023.4(SGCA):c.957-8T>G GRCh37: Chr17:48247993 GRCh38: Chr17:50170632	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 216719421.	NM_000023.4(SGCA):c.905T>C (p.Leu302Pro) GRCh37: Chr17:48247661 GRCh38: Chr17:50170300	SGCA	L302P	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 216351522.	NM_000023.4(SGCA):c.1001A>G (p.His334Arg) GRCh37: Chr17:48252635 GRCh38: Chr17:50175274	SGCA	H334R, H210R	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 214914623.	NM_000023.4(SGCA):c.313-5C>G GRCh37: Chr17:48245303 GRCh38: Chr17:50167942	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 214803724.	NM_000023.4(SGCA):c.523G>A (p.Val175Ile) GRCh37: Chr17:48245872 GRCh38: Chr17:50168511	SGCA	V175I	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 214523625.	NM_000023.4(SGCA):c.201G>A (p.Gln67=) GRCh37: Chr17:48244986 GRCh38: Chr17:50167625	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 214134426.	NM_000023.4(SGCA):c.946C>T (p.Arg316Trp) GRCh37: Chr17:48247702 GRCh38: Chr17:50170341	SGCA	R316W	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 213952627.	NM_000023.4(SGCA):c.584+10C>A GRCh37: Chr17:48245943 GRCh38: Chr17:50168582	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 213715828.	NM_000023.4(SGCA):c.750G>A (p.Val250=) GRCh37: Chr17:48247506 GRCh38: Chr17:50170145	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 211715429.	NM_000023.4(SGCA):c.157+20C>A GRCh37: Chr17:48244868 GRCh38: Chr17:50167507	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 210597130.	NM_000023.4(SGCA):c.1105G>A (p.Glu369Lys) GRCh37: Chr17:48252739 GRCh38: Chr17:50175378	SGCA	E245K, E369K	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 210197031.	NM_000023.4(SGCA):c.906G>C (p.Leu302=) GRCh37: Chr17:48247662 GRCh38: Chr17:50170301	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 209037932.	NM_000023.4(SGCA):c.229dup (p.Arg77fs) GRCh37: Chr17:48245012-48245013 GRCh38: Chr17:50167651-50167652	SGCA	R77fs	Autosomal recessive limb-girdle muscular dystrophy type 2D	Pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 208682933.	NM_000023.4(SGCA):c.285A>G (p.Pro95=) GRCh37: Chr17:48245070 GRCh38: Chr17:50167709	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 207688834.	NM_000023.4(SGCA):c.1114C>T (p.Pro372Ser) GRCh37: Chr17:48252748 GRCh38: Chr17:50175387	SGCA	P372S, P248S	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 207375935.	NM_000023.4(SGCA):c.296G>A (p.Gly99Glu) GRCh37: Chr17:48245081 GRCh38: Chr17:50167720	SGCA	G99E	Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely pathogenic (Jan 4, 2022)	criteria provided, single submitter
Select item 206559136.	NM_000023.4(SGCA):c.38-14T>C GRCh37: Chr17:48244715 GRCh38: Chr17:50167354	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 206247737.	NM_000023.4(SGCA):c.195C>T (p.His65=) GRCh37: Chr17:48244980 GRCh38: Chr17:50167619	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 205867138.	NM_000023.4(SGCA):c.319G>A (p.Ala107Thr) GRCh37: Chr17:48245314 GRCh38: Chr17:50167953	SGCA	A107T	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 205529139.	NM_000023.4(SGCA):c.312+11G>A GRCh37: Chr17:48245108 GRCh38: Chr17:50167747	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 205528840.	NM_000023.4(SGCA):c.103G>A (p.Val35Ile) GRCh37: Chr17:48244794 GRCh38: Chr17:50167433	SGCA	V35I	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 205292341.	NM_000023.4(SGCA):c.550C>T (p.Arg184Cys) GRCh37: Chr17:48245899 GRCh38: Chr17:50168538	SGCA	R184C	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 205111742.	NM_000023.4(SGCA):c.240G>A (p.Gln80=) GRCh37: Chr17:48245025 GRCh38: Chr17:50167664	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 204965943.	NM_000023.4(SGCA):c.646C>T (p.Pro216Ser) GRCh37: Chr17:48246514 GRCh38: Chr17:50169153	SGCA	P216S	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 203867944.	NM_000023.4(SGCA):c.342T>C (p.Asp114=) GRCh37: Chr17:48245337 GRCh38: Chr17:50167976	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 203736345.	NM_000023.4(SGCA):c.164C>T (p.Pro55Leu) GRCh37: Chr17:48244949 GRCh38: Chr17:50167588	SGCA	P55L	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 203673046.	NM_000023.4(SGCA):c.56G>A (p.Gly19Glu) GRCh37: Chr17:48244747 GRCh38: Chr17:50167386	SGCA	G19E	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 202963747.	NM_000023.4(SGCA):c.225del (p.Trp75fs) GRCh37: Chr17:48245009 GRCh38: Chr17:50167648	SGCA	W75fs	Autosomal recessive limb-girdle muscular dystrophy type 2D	Pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 202958048.	NM_000023.4(SGCA):c.983+10G>A GRCh37: Chr17:48248037 GRCh38: Chr17:50170676	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 202450349.	NM_000023.4(SGCA):c.957-16C>T GRCh37: Chr17:48247985 GRCh38: Chr17:50170624	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 201498950.	NM_000023.4(SGCA):c.237C>G (p.Thr79=) GRCh37: Chr17:48245022 GRCh38: Chr17:50167661	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 200737051.	NM_000023.4(SGCA):c.250dup (p.His84fs) GRCh37: Chr17:48245030-48245031 GRCh38: Chr17:50167669-50167670	SGCA	H84fs	Autosomal recessive limb-girdle muscular dystrophy type 2D	Pathogenic (Oct 15, 2022)	criteria provided, single submitter
Select item 200565352.	NM_000023.4(SGCA):c.957-5C>T GRCh37: Chr17:48247996 GRCh38: Chr17:50170635	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200512153.	NM_000023.4(SGCA):c.608C>T (p.Ala203Val) GRCh37: Chr17:48246476 GRCh38: Chr17:50169115	SGCA	A203V	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 200301654.	NM_000023.4(SGCA):c.1041G>A (p.Met347Ile) GRCh37: Chr17:48252675 GRCh38: Chr17:50175314	SGCA	M223I, M347I	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 199791555.	NM_000023.4(SGCA):c.286G>A (p.Glu96Lys) GRCh37: Chr17:48245071 GRCh38: Chr17:50167710	SGCA	E96K	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 199430656.	NM_000023.4(SGCA):c.386-8C>G GRCh37: Chr17:48245727 GRCh38: Chr17:50168366	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 199102757.	NM_000023.4(SGCA):c.1067C>G (p.Pro356Arg) GRCh37: Chr17:48252701 GRCh38: Chr17:50175340	SGCA	P232R, P356R	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 199055258.	NM_000023.4(SGCA):c.915C>G (p.Thr305=) GRCh37: Chr17:48247671 GRCh38: Chr17:50170310	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 198678159.	NM_000023.4(SGCA):c.668C>T (p.Ala223Val) GRCh37: Chr17:48246536 GRCh38: Chr17:50169175	SGCA	A223V	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 198323060.	NM_000023.4(SGCA):c.966A>G (p.Arg322=) GRCh37: Chr17:48248010 GRCh38: Chr17:50170649	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 198300261.	NM_000023.4(SGCA):c.385+5C>T GRCh37: Chr17:48245385 GRCh38: Chr17:50168024	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 197708062.	NM_000023.4(SGCA):c.669C>T (p.Ala223=) GRCh37: Chr17:48246537 GRCh38: Chr17:50169176	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 197453863.	NM_000023.4(SGCA):c.977C>T (p.Thr326Ile) GRCh37: Chr17:48248021 GRCh38: Chr17:50170660	SGCA	T326I, T202I	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 197063664.	NM_000023.4(SGCA):c.983+20G>A GRCh37: Chr17:48248047 GRCh38: Chr17:50170686	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 196784765.	NM_000023.4(SGCA):c.218C>G (p.Pro73Arg) GRCh37: Chr17:48245003 GRCh38: Chr17:50167642	SGCA	P73R	Autosomal recessive limb-girdle muscular dystrophy type 2D	Pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 195078066.	NM_000023.4(SGCA):c.805C>T (p.Leu269=) GRCh37: Chr17:48247561 GRCh38: Chr17:50170200	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 194600267.	NM_000023.4(SGCA):c.771T>G (p.Pro257=) GRCh37: Chr17:48247527 GRCh38: Chr17:50170166	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 194166268.	NM_000023.4(SGCA):c.388C>T (p.Pro130Ser) GRCh37: Chr17:48245737 GRCh38: Chr17:50168376	SGCA	P130S	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 193620769.	NM_000023.4(SGCA):c.488del (p.Gly163fs) GRCh37: Chr17:48245832 GRCh38: Chr17:50168471	SGCA	G163fs	Autosomal recessive limb-girdle muscular dystrophy type 2D	Pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 192822670.	NM_000023.4(SGCA):c.722G>A (p.Arg241His) GRCh37: Chr17:48246590 GRCh38: Chr17:50169229	SGCA	R241H	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192816871.	NM_000023.4(SGCA):c.627C>T (p.Cys209=) GRCh37: Chr17:48246495 GRCh38: Chr17:50169134	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 192081872.	NM_000023.4(SGCA):c.1043C>T (p.Ala348Val) GRCh37: Chr17:48252677 GRCh38: Chr17:50175316	SGCA	A224V, A348V	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 191614773.	NM_000023.4(SGCA):c.615T>G (p.Pro205=) GRCh37: Chr17:48246483 GRCh38: Chr17:50169122	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 191343374.	NM_000023.4(SGCA):c.956+14T>C GRCh37: Chr17:48247726 GRCh38: Chr17:50170365	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 191062475.	NM_000023.4(SGCA):c.366G>C (p.Leu122=) GRCh37: Chr17:48245361 GRCh38: Chr17:50168000	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 190952276.	NM_000023.4(SGCA):c.37+11G>A GRCh37: Chr17:48243449 GRCh38: Chr17:50166088	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 190831577.	NM_000023.4(SGCA):c.731G>C (p.Trp244Ser) GRCh37: Chr17:48246599 GRCh38: Chr17:50169238	SGCA	W244S	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 172683578.	NM_000023.4(SGCA):c.84_90del (p.His29fs) GRCh37: Chr17:48244775-48244781 GRCh38: Chr17:50167414-50167420	SGCA	H29fs	Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172682979.	NM_000023.4(SGCA):c.119del (p.Leu40fs) GRCh37: Chr17:48244809 GRCh38: Chr17:50167448	SGCA	L40fs	Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172442380.	NM_000023.4(SGCA):c.163_164del (p.Pro55fs) GRCh37: Chr17:48244947-48244948 GRCh38: Chr17:50167586-50167587	SGCA	P55fs	Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely pathogenic (Feb 15, 2022)	criteria provided, single submitter
Select item 171470981.	NM_000023.4(SGCA):c.1148T>A (p.Ile383Asn) GRCh37: Chr17:48252782 GRCh38: Chr17:50175421	SGCA	I259N, I383N	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 170421182.	NM_000023.4(SGCA):c.37G>A (p.Val13Ile) GRCh37: Chr17:48243438 GRCh38: Chr17:50166077	SGCA	V13I	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 169150283.	NM_000023.4(SGCA):c.956+1G>A GRCh37: Chr17:48247713 GRCh38: Chr17:50170352	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely pathogenic (Jun 14, 2022)	no assertion criteria provided
Select item 169150184.	NM_000023.4(SGCA):c.701del (p.Asp234fs) GRCh37: Chr17:48246569 GRCh38: Chr17:50169208	SGCA	D234fs	Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely pathogenic (Jun 14, 2022)	no assertion criteria provided
Select item 167911585.	NM_000023.4(SGCA):c.467G>A (p.Arg156His) GRCh37: Chr17:48245816 GRCh38: Chr17:50168455	SGCA	R156H	Autosomal recessive limb-girdle muscular dystrophy type 2D	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167499686.	NM_000023.4(SGCA):c.108T>C (p.Phe36=) GRCh37: Chr17:48244799 GRCh38: Chr17:50167438	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 167136587.	NM_000023.4(SGCA):c.158-7C>T GRCh37: Chr17:48244936 GRCh38: Chr17:50167575	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 166677588.	NM_000023.4(SGCA):c.158-12C>T GRCh37: Chr17:48244931 GRCh38: Chr17:50167570	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 166545689.	NM_000023.4(SGCA):c.385+8T>C GRCh37: Chr17:48245388 GRCh38: Chr17:50168027	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Dec 24, 2020)	criteria provided, single submitter
Select item 166310690.	NM_000023.4(SGCA):c.390C>T (p.Pro130=) GRCh37: Chr17:48245739 GRCh38: Chr17:50168378	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Dec 19, 2020)	criteria provided, single submitter
Select item 165997491.	NM_000023.4(SGCA):c.438G>A (p.Glu146=) GRCh37: Chr17:48245787 GRCh38: Chr17:50168426	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (May 18, 2021)	criteria provided, single submitter
Select item 165744192.	NM_000023.4(SGCA):c.441G>A (p.Glu147=) GRCh37: Chr17:48245790 GRCh38: Chr17:50168429	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Dec 2, 2020)	criteria provided, single submitter
Select item 165380993.	NM_000023.4(SGCA):c.804C>T (p.Ile268=) GRCh37: Chr17:48247560 GRCh38: Chr17:50170199	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 164638794.	NM_000023.4(SGCA):c.174C>T (p.Val58=) GRCh37: Chr17:48244959 GRCh38: Chr17:50167598	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Aug 23, 2021)	criteria provided, single submitter
Select item 163890495.	NM_000023.4(SGCA):c.894G>C (p.Leu298=) GRCh37: Chr17:48247650 GRCh38: Chr17:50170289	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 163821796.	NM_000023.4(SGCA):c.489A>G (p.Gly163=) GRCh37: Chr17:48245838 GRCh38: Chr17:50168477	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Oct 4, 2021)	criteria provided, single submitter
Select item 163639997.	NM_000023.4(SGCA):c.825C>T (p.Phe275=) GRCh37: Chr17:48247581 GRCh38: Chr17:50170220	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Feb 24, 2021)	criteria provided, single submitter
Select item 163593898.	NM_000023.4(SGCA):c.1047C>G (p.Ala349=) GRCh37: Chr17:48252681 GRCh38: Chr17:50175320	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Jun 11, 2021)	criteria provided, single submitter
Select item 163514499.	NM_000023.4(SGCA):c.525C>A (p.Val175=) GRCh37: Chr17:48245874 GRCh38: Chr17:50168513	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Nov 8, 2021)	criteria provided, single submitter
Select item 1629505100.	NM_000023.4(SGCA):c.246C>T (p.Ser82=) GRCh37: Chr17:48245031 GRCh38: Chr17:50167670	SGCA		Autosomal recessive limb-girdle muscular dystrophy type 2D	Likely benign (Jan 28, 2021)	criteria provided, single submitter

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