ClinVar for MedGen (Select 322993) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24325111.	NM_031372.4(HNRNPDL):c.316C>G (p.Arg106Gly) GRCh37: Chr4:83350528 GRCh38: Chr4:82429375	HNRNPDL	R106G	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jan 30, 2020)	criteria provided, single submitter
Select item 24325102.	NM_031372.4(HNRNPDL):c.266_300del (p.His89fs) GRCh37: Chr4:83350544-83350578 GRCh38: Chr4:82429391-82429425	HNRNPDL	H89fs	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 24325093.	NM_031372.4(HNRNPDL):c.101C>G (p.Pro34Arg) GRCh37: Chr4:83350743 GRCh38: Chr4:82429590	HNRNPDL	P34R	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 24325084.	NM_031372.4(HNRNPDL):c.248C>A (p.Pro83Gln) GRCh37: Chr4:83350596 GRCh38: Chr4:82429443	HNRNPDL	P83Q	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jan 31, 2022)	criteria provided, single submitter
Select item 24325075.	NM_031372.4(HNRNPDL):c.88T>G (p.Trp30Gly) GRCh37: Chr4:83350756 GRCh38: Chr4:82429603	HNRNPDL	W30G	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Sep 9, 2019)	criteria provided, single submitter
Select item 24325066.	NM_031372.4(HNRNPDL):c.110_113delinsCGCC (p.Gln37_Leu38delinsProPro) GRCh37: Chr4:83350731-83350734 GRCh38: Chr4:82429578-82429581	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 24283587.	NM_031372.4(HNRNPDL):c.710T>G (p.Val237Gly) GRCh37: Chr4:83349235 GRCh38: Chr4:82428082	HNRNPDL	V237G	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 24269688.	NC_000004.11:g.(?_83347212)_(83350843_?)del GRCh37: Chr4:83347212-83350843	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 24267849.	NM_031372.4(HNRNPDL):c.318G>C (p.Arg106=) GRCh37: Chr4:83350526 GRCh38: Chr4:82429373	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 242035410.	NM_031372.4(HNRNPDL):c.443+17C>T GRCh37: Chr4:83350384 GRCh38: Chr4:82429231	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 242018411.	NM_031372.4(HNRNPDL):c.119C>T (p.Pro40Leu) GRCh37: Chr4:83350725 GRCh38: Chr4:82429572	HNRNPDL	P40L	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 241561412.	NM_031372.4(HNRNPDL):c.270T>G (p.Phe90Leu) GRCh37: Chr4:83350574 GRCh38: Chr4:82429421	HNRNPDL	F90L	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 241488913.	NM_031372.4(HNRNPDL):c.985G>C (p.Ala329Pro) GRCh37: Chr4:83348379 GRCh38: Chr4:82427226	HNRNPDL	A329P	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 220366414.	NM_031372.4(HNRNPDL):c.338C>T (p.Pro113Leu) GRCh37: Chr4:83350506 GRCh38: Chr4:82429353	HNRNPDL	P113L	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 220097615.	NM_031372.4(HNRNPDL):c.441C>T (p.Asp147=) GRCh37: Chr4:83350403 GRCh38: Chr4:82429250	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Mar 21, 2021)	criteria provided, single submitter
Select item 220043416.	NM_031372.4(HNRNPDL):c.105G>A (p.Pro35=) GRCh37: Chr4:83350739 GRCh38: Chr4:82429586	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 219500717.	NM_031372.4(HNRNPDL):c.117C>T (p.Ala39=) GRCh37: Chr4:83350727 GRCh38: Chr4:82429574	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 219416118.	NM_031372.4(HNRNPDL):c.287A>G (p.Gln96Arg) GRCh37: Chr4:83350557 GRCh38: Chr4:82429404	HNRNPDL	Q96R	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 219198419.	NM_031372.4(HNRNPDL):c.906+19T>C GRCh37: Chr4:83348567 GRCh38: Chr4:82427414	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 218707820.	NM_031372.4(HNRNPDL):c.178C>G (p.His60Asp) GRCh37: Chr4:83350666 GRCh38: Chr4:82429513	HNRNPDL	H60D	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 218401621.	NM_031372.4(HNRNPDL):c.153G>C (p.Arg51=) GRCh37: Chr4:83350691 GRCh38: Chr4:82429538	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 217611122.	NM_031372.4(HNRNPDL):c.907-15G>A GRCh37: Chr4:83348472 GRCh38: Chr4:82427319	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 217360323.	NM_031372.4(HNRNPDL):c.246C>A (p.Arg82=) GRCh37: Chr4:83350598 GRCh38: Chr4:82429445	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 217275024.	NM_031372.4(HNRNPDL):c.83C>T (p.Ser28Phe) GRCh37: Chr4:83350761 GRCh38: Chr4:82429608	HNRNPDL	S28F	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 217091025.	NM_031372.4(HNRNPDL):c.775-12T>C GRCh37: Chr4:83348729 GRCh38: Chr4:82427576	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 216946026.	NM_031372.4(HNRNPDL):c.939A>G (p.Val313=) GRCh37: Chr4:83348425 GRCh38: Chr4:82427272	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 216793727.	NM_031372.4(HNRNPDL):c.19C>T (p.Leu7Phe) GRCh37: Chr4:83350825 GRCh38: Chr4:82429672	HNRNPDL	L7F	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 216793328.	NM_031372.4(HNRNPDL):c.33G>T (p.Pro11=) GRCh37: Chr4:83350811 GRCh38: Chr4:82429658	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 216539229.	NM_031372.4(HNRNPDL):c.177C>A (p.Arg59=) GRCh37: Chr4:83350667 GRCh38: Chr4:82429514	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 216228730.	NM_031372.4(HNRNPDL):c.244C>T (p.Arg82Cys) GRCh37: Chr4:83350600 GRCh38: Chr4:82429447	HNRNPDL	R82C	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215608031.	NM_031372.4(HNRNPDL):c.885C>T (p.Tyr295=) GRCh37: Chr4:83348607 GRCh38: Chr4:82427454	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 215464332.	NM_031372.4(HNRNPDL):c.74G>A (p.Arg25His) GRCh37: Chr4:83350770 GRCh38: Chr4:82429617	HNRNPDL	R25H	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 215396333.	NM_031372.4(HNRNPDL):c.338del (p.Pro113fs) GRCh37: Chr4:83350506 GRCh38: Chr4:82429353	HNRNPDL	P113fs	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 214877334.	NM_031372.4(HNRNPDL):c.245G>A (p.Arg82His) GRCh37: Chr4:83350599 GRCh38: Chr4:82429446	HNRNPDL	R82H	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Sep 18, 2022)	criteria provided, single submitter
Select item 213831435.	NM_031372.4(HNRNPDL):c.95C>T (p.Pro32Leu) GRCh37: Chr4:83350749 GRCh38: Chr4:82429596	HNRNPDL	P32L	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 213702236.	NM_031372.4(HNRNPDL):c.333C>G (p.His111Gln) GRCh37: Chr4:83350511 GRCh38: Chr4:82429358	HNRNPDL	H111Q	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 213287237.	NM_031372.4(HNRNPDL):c.10C>G (p.Pro4Ala) GRCh37: Chr4:83350834 GRCh38: Chr4:82429681	HNRNPDL	P4A	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213278038.	NM_031372.4(HNRNPDL):c.989G>C (p.Gly330Ala) GRCh37: Chr4:83348375 GRCh38: Chr4:82427222	HNRNPDL	G330A	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213113939.	NM_031372.4(HNRNPDL):c.293C>G (p.Ser98Cys) GRCh37: Chr4:83350551 GRCh38: Chr4:82429398	HNRNPDL	S98C	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 212635840.	NM_031372.4(HNRNPDL):c.809_812del (p.Thr270fs) GRCh37: Chr4:83348680-83348683 GRCh38: Chr4:82427527-82427530	HNRNPDL	T270fs	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212261441.	NM_031372.4(HNRNPDL):c.462C>T (p.Gly154=) GRCh37: Chr4:83349581 GRCh38: Chr4:82428428	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 211809342.	NM_031372.4(HNRNPDL):c.955CAA[2] (p.Gln321del) GRCh37: Chr4:83348401-83348403 GRCh38: Chr4:82427248-82427250	HNRNPDL	Q321del	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 211658943.	NM_031372.4(HNRNPDL):c.87T>C (p.His29=) GRCh37: Chr4:83350757 GRCh38: Chr4:82429604	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 210465044.	NM_031372.4(HNRNPDL):c.1105C>G (p.Gln369Glu) GRCh37: Chr4:83347703 GRCh38: Chr4:82426550	HNRNPDL	Q369E	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 210412945.	NM_031372.4(HNRNPDL):c.998G>A (p.Gly333Asp) GRCh37: Chr4:83348366 GRCh38: Chr4:82427213	HNRNPDL	G333D	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 209510146.	NM_031372.4(HNRNPDL):c.146C>T (p.Ser49Phe) GRCh37: Chr4:83350698 GRCh38: Chr4:82429545	HNRNPDL	S49F	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 208176247.	NM_031372.4(HNRNPDL):c.407C>T (p.Ser136Phe) GRCh37: Chr4:83350437 GRCh38: Chr4:82429284	HNRNPDL	S136F	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 207912248.	NM_031372.4(HNRNPDL):c.307G>A (p.Ala103Thr) GRCh37: Chr4:83350537 GRCh38: Chr4:82429384	HNRNPDL	A103T	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 207817249.	NM_031372.4(HNRNPDL):c.133C>T (p.Leu45Phe) GRCh37: Chr4:83350711 GRCh38: Chr4:82429558	HNRNPDL	L45F	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 207703150.	NM_031372.4(HNRNPDL):c.336C>A (p.Pro112=) GRCh37: Chr4:83350508 GRCh38: Chr4:82429355	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 207327951.	NM_031372.4(HNRNPDL):c.105_113del (p.Arg36_Leu38del) GRCh37: Chr4:83350731-83350739 GRCh38: Chr4:82429578-82429586	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 207308752.	NM_031372.4(HNRNPDL):c.327C>T (p.Arg109=) GRCh37: Chr4:83350517 GRCh38: Chr4:82429364	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 206714353.	NM_031372.4(HNRNPDL):c.178C>T (p.His60Tyr) GRCh37: Chr4:83350666 GRCh38: Chr4:82429513	HNRNPDL	H60Y	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 206692354.	NM_031372.4(HNRNPDL):c.868T>C (p.Leu290=) GRCh37: Chr4:83348624 GRCh38: Chr4:82427471	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 206658555.	NM_031372.4(HNRNPDL):c.1022-14G>C GRCh37: Chr4:83347800 GRCh38: Chr4:82426647	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 206650656.	NM_031372.4(HNRNPDL):c.1193-16T>C GRCh37: Chr4:83347298 GRCh38: Chr4:82426145	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 206137757.	NM_031372.4(HNRNPDL):c.153G>T (p.Arg51=) GRCh37: Chr4:83350691 GRCh38: Chr4:82429538	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 205884058.	NM_031372.4(HNRNPDL):c.594T>G (p.Asp198Glu) GRCh37: Chr4:83349449 GRCh38: Chr4:82428296	HNRNPDL	D198E	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 205752159.	NM_031372.4(HNRNPDL):c.352G>A (p.Val118Ile) GRCh37: Chr4:83350492 GRCh38: Chr4:82429339	HNRNPDL	V118I	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 205605360.	NM_031372.4(HNRNPDL):c.444-15C>T GRCh37: Chr4:83349614 GRCh38: Chr4:82428461	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 205358161.	NM_031372.4(HNRNPDL):c.443+13T>G GRCh37: Chr4:83350388 GRCh38: Chr4:82429235	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 205163962.	NM_031372.4(HNRNPDL):c.303T>C (p.Ala101=) GRCh37: Chr4:83350541 GRCh38: Chr4:82429388	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 205133463.	NM_031372.4(HNRNPDL):c.774+3G>A GRCh37: Chr4:83349168 GRCh38: Chr4:82428015	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 205016764.	NM_031372.4(HNRNPDL):c.48C>T (p.Pro16=) GRCh37: Chr4:83350796 GRCh38: Chr4:82429643	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 204781865.	NM_031372.4(HNRNPDL):c.284T>C (p.Ile95Thr) GRCh37: Chr4:83350560 GRCh38: Chr4:82429407	HNRNPDL	I95T	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 204641766.	NM_031372.4(HNRNPDL):c.180C>G (p.His60Gln) GRCh37: Chr4:83350664 GRCh38: Chr4:82429511	HNRNPDL	H60Q	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 204441267.	NM_031372.4(HNRNPDL):c.444-14_444-13del GRCh37: Chr4:83349612-83349613 GRCh38: Chr4:82428459-82428460	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 204034868.	NM_031372.4(HNRNPDL):c.42G>T (p.Leu14Phe) GRCh37: Chr4:83350802 GRCh38: Chr4:82429649	HNRNPDL	L14F	Autosomal dominant limb-girdle muscular dystrophy type 1G, Inborn genetic diseases	Uncertain significance (May 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 203974369.	NM_031372.4(HNRNPDL):c.135C>G (p.Leu45=) GRCh37: Chr4:83350709 GRCh38: Chr4:82429556	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 203635570.	NM_031372.4(HNRNPDL):c.1021+7C>G GRCh37: Chr4:83348336 GRCh38: Chr4:82427183	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203191971.	NM_031372.4(HNRNPDL):c.1248T>C (p.Asn416=) GRCh37: Chr4:83347227 GRCh38: Chr4:82426074	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 203069772.	NM_031372.4(HNRNPDL):c.747T>C (p.Ile249=) GRCh37: Chr4:83349198 GRCh38: Chr4:82428045	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 202943473.	NM_031372.4(HNRNPDL):c.6G>A (p.Glu2=) GRCh37: Chr4:83350838 GRCh38: Chr4:82429685	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 202349774.	NM_031372.4(HNRNPDL):c.1018C>A (p.Arg340=) GRCh37: Chr4:83348346 GRCh38: Chr4:82427193	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 202092475.	NM_031372.4(HNRNPDL):c.831T>C (p.Cys277=) GRCh37: Chr4:83348661 GRCh38: Chr4:82427508	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 200813076.	NM_031372.4(HNRNPDL):c.840A>C (p.Thr280=) GRCh37: Chr4:83348652 GRCh38: Chr4:82427499	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Apr 27, 2022)	criteria provided, single submitter
Select item 199587877.	NM_031372.4(HNRNPDL):c.45C>A (p.Phe15Leu) GRCh37: Chr4:83350799 GRCh38: Chr4:82429646	HNRNPDL	F15L	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Sep 4, 2022)	criteria provided, single submitter
Select item 199527078.	NM_031372.4(HNRNPDL):c.443+14C>A GRCh37: Chr4:83350387 GRCh38: Chr4:82429234	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 197645179.	NM_031372.4(HNRNPDL):c.22T>C (p.Ser8Pro) GRCh37: Chr4:83350822 GRCh38: Chr4:82429669	HNRNPDL	S8P	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 197253280.	NM_031372.4(HNRNPDL):c.123C>T (p.Leu41=) GRCh37: Chr4:83350721 GRCh38: Chr4:82429568	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 196607881.	NM_031372.4(HNRNPDL):c.133C>G (p.Leu45Val) GRCh37: Chr4:83350711 GRCh38: Chr4:82429558	HNRNPDL	L45V	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 196552282.	NM_031372.4(HNRNPDL):c.845C>G (p.Thr282Ser) GRCh37: Chr4:83348647 GRCh38: Chr4:82427494	HNRNPDL	T282S	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 196363783.	NM_031372.4(HNRNPDL):c.213C>A (p.Gly71=) GRCh37: Chr4:83350631 GRCh38: Chr4:82429478	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 196325084.	NM_031372.4(HNRNPDL):c.29T>C (p.Val10Ala) GRCh37: Chr4:83350815 GRCh38: Chr4:82429662	HNRNPDL	V10A	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 196296785.	NM_031372.4(HNRNPDL):c.385A>G (p.Ile129Val) GRCh37: Chr4:83350459 GRCh38: Chr4:82429306	HNRNPDL	I129V	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 195918986.	NM_031372.4(HNRNPDL):c.734C>G (p.Ser245Cys) GRCh37: Chr4:83349211 GRCh38: Chr4:82428058	HNRNPDL	S245C	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 195617287.	NM_031372.4(HNRNPDL):c.1021+9T>C GRCh37: Chr4:83348334 GRCh38: Chr4:82427181	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 195277788.	NM_031372.4(HNRNPDL):c.443+19C>T GRCh37: Chr4:83350382 GRCh38: Chr4:82429229	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 195146489.	NM_031372.4(HNRNPDL):c.103C>A (p.Pro35Thr) GRCh37: Chr4:83350741 GRCh38: Chr4:82429588	HNRNPDL	P35T	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 194820790.	NM_031372.4(HNRNPDL):c.906+12T>C GRCh37: Chr4:83348574 GRCh38: Chr4:82427421	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 194721991.	NM_031372.4(HNRNPDL):c.1192+12_1192+13insG GRCh37: Chr4:83347603-83347604 GRCh38: Chr4:82426450-82426451	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 194577292.	NM_031372.4(HNRNPDL):c.32C>G (p.Pro11Arg) GRCh37: Chr4:83350812 GRCh38: Chr4:82429659	HNRNPDL	P11R	Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 193717893.	NM_031372.4(HNRNPDL):c.775-15G>A GRCh37: Chr4:83348732 GRCh38: Chr4:82427579	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 169388394.	NM_031372.4(HNRNPDL):c.642T>G (p.Asp214Glu) GRCh37: Chr4:83349303 GRCh38: Chr4:82428150	HNRNPDL	D214E	not provided, Autosomal dominant limb-girdle muscular dystrophy type 1G	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167342095.	NM_031372.4(HNRNPDL):c.444-20A>T GRCh37: Chr4:83349619 GRCh38: Chr4:82428466	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 166928296.	NM_031372.4(HNRNPDL):c.294C>T (p.Ser98=) GRCh37: Chr4:83350550 GRCh38: Chr4:82429397	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 165711597.	NM_031372.4(HNRNPDL):c.775-20A>T GRCh37: Chr4:83348737 GRCh38: Chr4:82427584	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 165110398.	NM_031372.4(HNRNPDL):c.613-17A>G GRCh37: Chr4:83349349 GRCh38: Chr4:82428196	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Benign (Oct 26, 2022)	criteria provided, single submitter
Select item 164925899.	NM_031372.4(HNRNPDL):c.443+9C>T GRCh37: Chr4:83350392 GRCh38: Chr4:82429239	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 1648948100.	NM_031372.4(HNRNPDL):c.1062T>C (p.Tyr354=) GRCh37: Chr4:83347746 GRCh38: Chr4:82426593	HNRNPDL		Autosomal dominant limb-girdle muscular dystrophy type 1G	Likely benign (Jun 20, 2022)	criteria provided, single submitter

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