ClinVar for MedGen (Select 1648441) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24409391.	NM_058246.4(DNAJB6):c.838G>A (p.Glu280Lys) GRCh37: Chr7:157202635 GRCh38: Chr7:157409941	DNAJB6	E165K, E280K	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 24409382.	NM_058246.4(DNAJB6):c.274A>C (p.Thr92Pro) GRCh37: Chr7:157160105 GRCh38: Chr7:157367411	DNAJB6	T92P	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter
Select item 24409373.	NM_058246.4(DNAJB6):c.172G>C (p.Asp58His) GRCh37: Chr7:157155961 GRCh38: Chr7:157363267	DNAJB6	D58H	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Apr 24, 2019)	criteria provided, single submitter
Select item 24409354.	NM_058246.4(DNAJB6):c.488C>T (p.Ser163Leu) GRCh37: Chr7:157177570 GRCh38: Chr7:157384876	DNAJB6	S163L	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 24409345.	NM_058246.4(DNAJB6):c.866C>G (p.Pro289Arg) GRCh37: Chr7:157202663 GRCh38: Chr7:157409969	DNAJB6	P174R, P289R	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 24409336.	NM_058246.4(DNAJB6):c.725G>T (p.Arg242Leu) GRCh37: Chr7:157202522 GRCh38: Chr7:157409828	DNAJB6	R127L, R242L	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Nov 20, 2020)	criteria provided, single submitter
Select item 24409327.	NM_058246.4(DNAJB6):c.779C>T (p.Pro260Leu) GRCh37: Chr7:157202576 GRCh38: Chr7:157409882	DNAJB6	P145L, P260L	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Dec 21, 2022)	criteria provided, single submitter
Select item 24409318.	NM_058246.4(DNAJB6):c.236-1G>C GRCh37: Chr7:157160066 GRCh38: Chr7:157367372	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Feb 10, 2021)	criteria provided, single submitter
Select item 24409309.	NM_058246.4(DNAJB6):c.425C>T (p.Ser142Phe) GRCh37: Chr7:157175018 GRCh38: Chr7:157382324	DNAJB6	S142F	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Jun 30, 2020)	criteria provided, single submitter
Select item 244092910.	NM_058246.4(DNAJB6):c.236-3C>G GRCh37: Chr7:157160064 GRCh38: Chr7:157367370	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 244092811.	NM_058246.4(DNAJB6):c.376C>T (p.Arg126Ter) GRCh37: Chr7:157174969 GRCh38: Chr7:157382275	DNAJB6	R126*	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Feb 16, 2021)	criteria provided, single submitter
Select item 242717712.	NC_000007.13:g.(?_157202469)_(157208792_?)dup GRCh37: Chr7:157202469-157208792	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 242717613.	NC_000007.13:g.(?_157177541)_(157208792_?)dup GRCh37: Chr7:157177541-157208792	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 241671114.	NM_058246.4(DNAJB6):c.749_757dup (p.Ala252_Gln253insLeuProAla) GRCh37: Chr7:157202541-157202542 GRCh38: Chr7:157409847-157409848	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 224857215.	NM_058246.4(DNAJB6):c.868G>A (p.Gly290Arg) GRCh37: Chr7:157202665 GRCh38: Chr7:157409971	DNAJB6	G175R, G290R	Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220225116.	NM_058246.4(DNAJB6):c.347-17T>A GRCh37: Chr7:157174923 GRCh38: Chr7:157382229	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 220069317.	NM_058246.4(DNAJB6):c.478+5T>G GRCh37: Chr7:157175076 GRCh38: Chr7:157382382	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 220008018.	NM_058246.4(DNAJB6):c.636T>G (p.Gly212=) GRCh37: Chr7:157178250 GRCh38: Chr7:157385556	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 219895319.	NM_058246.4(DNAJB6):c.621-16A>T GRCh37: Chr7:157178219 GRCh38: Chr7:157385525	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 219769620.	NM_058246.4(DNAJB6):c.27C>T (p.Gly9=) GRCh37: Chr7:157151293 GRCh38: Chr7:157358599	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 219721721.	NM_058246.4(DNAJB6):c.204T>C (p.Tyr68=) GRCh37: Chr7:157159224 GRCh38: Chr7:157366530	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 219541422.	NM_058246.4(DNAJB6):c.235+20C>T GRCh37: Chr7:157159275 GRCh38: Chr7:157366581	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 218233223.	NM_058246.4(DNAJB6):c.611C>T (p.Thr204Ile) GRCh37: Chr7:157177693 GRCh38: Chr7:157384999	DNAJB6	T204I	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 217470324.	NM_058246.4(DNAJB6):c.235+18T>G GRCh37: Chr7:157159273 GRCh38: Chr7:157366579	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 217389125.	NM_058246.4(DNAJB6):c.478+12C>G GRCh37: Chr7:157175083 GRCh38: Chr7:157382389	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 217184926.	NM_058246.4(DNAJB6):c.371G>A (p.Gly124Glu) GRCh37: Chr7:157174964 GRCh38: Chr7:157382270	DNAJB6	G124E	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 214665127.	NM_058246.4(DNAJB6):c.892G>A (p.Ala298Thr) GRCh37: Chr7:157202689 GRCh38: Chr7:157409995	DNAJB6	A183T, A298T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 214304328.	NM_058246.4(DNAJB6):c.574T>C (p.Ser192Pro) GRCh37: Chr7:157177656 GRCh38: Chr7:157384962	DNAJB6	S192P	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 213663529.	NM_058246.4(DNAJB6):c.287C>T (p.Pro96Leu) GRCh37: Chr7:157160118 GRCh38: Chr7:157367424	DNAJB6	P96L	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Pathogenic (Aug 12, 2022)	criteria provided, single submitter
Select item 212343130.	NM_058246.4(DNAJB6):c.385C>A (p.Pro129Thr) GRCh37: Chr7:157174978 GRCh38: Chr7:157382284	DNAJB6	P129T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 211092431.	NM_058246.4(DNAJB6):c.233G>A (p.Gly78Glu) GRCh37: Chr7:157159253 GRCh38: Chr7:157366559	DNAJB6	G78E	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210451132.	NM_058246.4(DNAJB6):c.48C>G (p.Pro16=) GRCh37: Chr7:157151314 GRCh38: Chr7:157358620	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 210244333.	NM_058246.4(DNAJB6):c.236-9T>C GRCh37: Chr7:157160058 GRCh38: Chr7:157367364	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 210119034.	NM_058246.4(DNAJB6):c.620+17C>T GRCh37: Chr7:157177719 GRCh38: Chr7:157385025	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Dec 8, 2021)	criteria provided, single submitter
Select item 208503735.	NM_058246.4(DNAJB6):c.219A>G (p.Leu73=) GRCh37: Chr7:157159239 GRCh38: Chr7:157366545	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 207410036.	NM_058246.4(DNAJB6):c.685A>G (p.Ile229Val) GRCh37: Chr7:157178299 GRCh38: Chr7:157385605	DNAJB6	I229V	Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Aug 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206766937.	NM_058246.4(DNAJB6):c.970G>T (p.Gly324Cys) GRCh37: Chr7:157208781 GRCh38: Chr7:157416087	DNAJB6	G209C, G324C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 206691438.	NM_058246.4(DNAJB6):c.692-13G>A GRCh37: Chr7:157202476 GRCh38: Chr7:157409782	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 206360039.	NM_058246.4(DNAJB6):c.691+9C>A GRCh37: Chr7:157178314 GRCh38: Chr7:157385620	DNAJB6	Q234K	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 205653540.	NM_058246.4(DNAJB6):c.620+16G>C GRCh37: Chr7:157177718 GRCh38: Chr7:157385024	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 205362041.	NM_058246.4(DNAJB6):c.183A>G (p.Lys61=) GRCh37: Chr7:157159203 GRCh38: Chr7:157366509	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 205137442.	NM_058246.4(DNAJB6):c.640G>C (p.Glu214Gln) GRCh37: Chr7:157178254 GRCh38: Chr7:157385560	DNAJB6	E214Q	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), not provided	Uncertain significance (Mar 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 203935243.	NM_058246.4(DNAJB6):c.772C>T (p.Arg258Cys) GRCh37: Chr7:157202569 GRCh38: Chr7:157409875	DNAJB6	R258C, R143C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 203701244.	NM_058246.4(DNAJB6):c.691+18C>T GRCh37: Chr7:157178323 GRCh38: Chr7:157385629	DNAJB6	R237C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 203097545.	NM_058246.4(DNAJB6):c.49G>T (p.Glu17Ter) GRCh37: Chr7:157151315 GRCh38: Chr7:157358621	DNAJB6	E17*	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 202891946.	NM_058246.4(DNAJB6):c.65+12del GRCh37: Chr7:157151340 GRCh38: Chr7:157358646	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Benign (Sep 6, 2022)	criteria provided, single submitter
Select item 201592847.	NM_058246.4(DNAJB6):c.65+9T>C GRCh37: Chr7:157151340 GRCh38: Chr7:157358646	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 201025448.	NM_058246.4(DNAJB6):c.766G>A (p.Gly256Ser) GRCh37: Chr7:157202563 GRCh38: Chr7:157409869	DNAJB6	G141S, G256S	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 201010949.	NM_058246.4(DNAJB6):c.617A>C (p.Lys206Thr) GRCh37: Chr7:157177699 GRCh38: Chr7:157385005	DNAJB6	K206T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 200029050.	NM_058246.4(DNAJB6):c.754G>A (p.Ala252Thr) GRCh37: Chr7:157202551 GRCh38: Chr7:157409857	DNAJB6	A137T, A252T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 199692951.	NM_058246.4(DNAJB6):c.340T>G (p.Phe114Val) GRCh37: Chr7:157160171 GRCh38: Chr7:157367477	DNAJB6	F114V	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 198446252.	NM_058246.4(DNAJB6):c.635G>A (p.Gly212Asp) GRCh37: Chr7:157178249 GRCh38: Chr7:157385555	DNAJB6	G212D	not provided, Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197947253.	NM_058246.4(DNAJB6):c.951G>A (p.Lys317=) GRCh37: Chr7:157208762 GRCh38: Chr7:157416068	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 197803454.	NM_058246.4(DNAJB6):c.135A>G (p.Lys45=) GRCh37: Chr7:157155924 GRCh38: Chr7:157363230	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 197732755.	NM_058246.4(DNAJB6):c.822C>T (p.His274=) GRCh37: Chr7:157202619 GRCh38: Chr7:157409925	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 196361556.	NM_058246.4(DNAJB6):c.754G>C (p.Ala252Pro) GRCh37: Chr7:157202551 GRCh38: Chr7:157409857	DNAJB6	A252P, A137P	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 195122057.	NM_058246.4(DNAJB6):c.700G>A (p.Asp234Asn) GRCh37: Chr7:157202497 GRCh38: Chr7:157409803	DNAJB6	D234N, D119N	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 195078258.	NM_058246.4(DNAJB6):c.710C>T (p.Ala237Val) GRCh37: Chr7:157202507 GRCh38: Chr7:157409813	DNAJB6	A122V, A237V	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 194795259.	NM_058246.4(DNAJB6):c.412G>A (p.Gly138Arg) GRCh37: Chr7:157175005 GRCh38: Chr7:157382311	DNAJB6	G138R	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 194274060.	NM_058246.4(DNAJB6):c.692-14C>T GRCh37: Chr7:157202475 GRCh38: Chr7:157409781	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 193506661.	NM_058246.4(DNAJB6):c.747C>T (p.Ala249=) GRCh37: Chr7:157202544 GRCh38: Chr7:157409850	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 193252562.	NM_058246.4(DNAJB6):c.976C>A (p.His326Asn) GRCh37: Chr7:157208787 GRCh38: Chr7:157416093	DNAJB6	H211N, H326N	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 193241063.	NM_058246.4(DNAJB6):c.898+15G>T GRCh37: Chr7:157202710 GRCh38: Chr7:157410016	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 192888464.	NM_058246.4(DNAJB6):c.182A>G (p.Lys61Arg) GRCh37: Chr7:157159202 GRCh38: Chr7:157366508	DNAJB6	K61R	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 192456965.	NM_058246.4(DNAJB6):c.898+17A>G GRCh37: Chr7:157202712 GRCh38: Chr7:157410018	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 191226566.	NM_058246.4(DNAJB6):c.55A>G (p.Ile19Val) GRCh37: Chr7:157151321 GRCh38: Chr7:157358627	DNAJB6	I19V	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 189550267.	NM_058246.4(DNAJB6):c.362A>G (p.Asp121Gly) GRCh37: Chr7:157174955 GRCh38: Chr7:157382261	DNAJB6	D121G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 181010068.	NM_058246.4(DNAJB6):c.499C>G (p.Leu167Val) GRCh37: Chr7:157177581 GRCh38: Chr7:157384887	DNAJB6	L167V	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), not provided	Uncertain significance (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167410769.	NM_058246.4(DNAJB6):c.620+18A>G GRCh37: Chr7:157177720 GRCh38: Chr7:157385026	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Benign (Aug 27, 2022)	criteria provided, single submitter
Select item 167285270.	NM_058246.4(DNAJB6):c.678C>T (p.Ser226=) GRCh37: Chr7:157178292 GRCh38: Chr7:157385598	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 166922371.	NM_058246.4(DNAJB6):c.65+17C>A GRCh37: Chr7:157151348 GRCh38: Chr7:157358654	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 166663572.	NM_058246.4(DNAJB6):c.66-9C>G GRCh37: Chr7:157155846 GRCh38: Chr7:157363152	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Dec 27, 2020)	criteria provided, single submitter
Select item 163706673.	NM_058246.4(DNAJB6):c.177T>C (p.Ala59=) GRCh37: Chr7:157159197 GRCh38: Chr7:157366503	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Oct 18, 2021)	criteria provided, single submitter
Select item 163448174.	NM_058246.4(DNAJB6):c.397A>C (p.Arg133=) GRCh37: Chr7:157174990 GRCh38: Chr7:157382296	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jul 7, 2021)	criteria provided, single submitter
Select item 163379675.	NM_058246.4(DNAJB6):c.621-18T>A GRCh37: Chr7:157178217 GRCh38: Chr7:157385523	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 163024576.	NM_058246.4(DNAJB6):c.691+19G>A GRCh37: Chr7:157178324 GRCh38: Chr7:157385630	DNAJB6	R237H	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 162896877.	NM_058246.4(DNAJB6):c.684A>G (p.Thr228=) GRCh37: Chr7:157178298 GRCh38: Chr7:157385604	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 160830278.	NM_058246.4(DNAJB6):c.867C>T (p.Pro289=) GRCh37: Chr7:157202664 GRCh38: Chr7:157409970	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 160504479.	NM_058246.4(DNAJB6):c.567A>G (p.Lys189=) GRCh37: Chr7:157177649 GRCh38: Chr7:157384955	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Oct 30, 2021)	criteria provided, single submitter
Select item 160462980.	NM_058246.4(DNAJB6):c.899-13C>T GRCh37: Chr7:157208697 GRCh38: Chr7:157416003	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 160191481.	NM_058246.4(DNAJB6):c.21T>G (p.Val7=) GRCh37: Chr7:157151287 GRCh38: Chr7:157358593	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Aug 30, 2021)	criteria provided, single submitter
Select item 159456382.	NM_058246.4(DNAJB6):c.825T>C (p.Cys275=) GRCh37: Chr7:157202622 GRCh38: Chr7:157409928	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 159281083.	NM_058246.4(DNAJB6):c.176-11T>A GRCh37: Chr7:157159185 GRCh38: Chr7:157366491	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 158873284.	NM_058246.4(DNAJB6):c.171G>A (p.Ser57=) GRCh37: Chr7:157155960 GRCh38: Chr7:157363266	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 158590985.	NM_058246.4(DNAJB6):c.899-12G>A GRCh37: Chr7:157208698 GRCh38: Chr7:157416004	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 158108486.	NM_058246.4(DNAJB6):c.235+9G>A GRCh37: Chr7:157159264 GRCh38: Chr7:157366570	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 157745187.	NM_058246.4(DNAJB6):c.166C>T (p.Leu56=) GRCh37: Chr7:157155955 GRCh38: Chr7:157363261	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Oct 16, 2021)	criteria provided, single submitter
Select item 157164388.	NM_058246.4(DNAJB6):c.444G>A (p.Pro148=) GRCh37: Chr7:157175037 GRCh38: Chr7:157382343	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Oct 20, 2021)	criteria provided, single submitter
Select item 157148089.	NM_058246.4(DNAJB6):c.691+8G>A GRCh37: Chr7:157178313 GRCh38: Chr7:157385619	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jul 13, 2021)	criteria provided, single submitter
Select item 155653990.	NM_058246.4(DNAJB6):c.702C>T (p.Asp234=) GRCh37: Chr7:157202499 GRCh38: Chr7:157409805	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Oct 1, 2021)	criteria provided, single submitter
Select item 155449791.	NM_058246.4(DNAJB6):c.66-12A>G GRCh37: Chr7:157155843 GRCh38: Chr7:157363149	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Sep 21, 2021)	criteria provided, single submitter
Select item 153487392.	NM_058246.4(DNAJB6):c.534G>A (p.Thr178=) GRCh37: Chr7:157177616 GRCh38: Chr7:157384922	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 153464593.	NM_058246.4(DNAJB6):c.898+20C>T GRCh37: Chr7:157202715 GRCh38: Chr7:157410021	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 153292394.	NM_058246.4(DNAJB6):c.258A>G (p.Pro86=) GRCh37: Chr7:157160089 GRCh38: Chr7:157367395	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 153184795.	NM_058246.4(DNAJB6):c.816G>A (p.Ala272=) GRCh37: Chr7:157202613 GRCh38: Chr7:157409919	DNAJB6		Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 152370496.	NM_058246.4(DNAJB6):c.932A>G (p.Lys311Arg) GRCh37: Chr7:157208743 GRCh38: Chr7:157416049	DNAJB6	K196R, K311R	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151510997.	NM_058246.4(DNAJB6):c.770T>A (p.Leu257His) GRCh37: Chr7:157202567 GRCh38: Chr7:157409873	DNAJB6	L257H, L142H	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 150943098.	NM_058246.4(DNAJB6):c.329T>C (p.Phe110Ser) GRCh37: Chr7:157160160 GRCh38: Chr7:157367466	DNAJB6	F110S	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 150925899.	NM_058246.4(DNAJB6):c.45dup (p.Pro16fs) GRCh37: Chr7:157151310-157151311 GRCh38: Chr7:157358616-157358617	DNAJB6	P16fs	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 1501373100.	NM_058246.4(DNAJB6):c.173A>G (p.Asp58Gly) GRCh37: Chr7:157155962 GRCh38: Chr7:157363268	DNAJB6	D58G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter

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