ClinVar for MedGen (Select 886881) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24408851.	NM_004409.5(DMPK):c.1754T>C (p.Leu585Pro) GRCh37: Chr19:46273882 GRCh38: Chr19:45770624	DMPK, DM1-AS, LOC107075317	L580P, L585P, L595P, L611P, Y495H, Y579H	Steinert myotonic dystrophy syndrome	Uncertain significance (Jan 3, 2020)	criteria provided, single submitter
Select item 24408842.	NM_004409.5(DMPK):c.983G>A (p.Gly328Asp) GRCh37: Chr19:46280748 GRCh38: Chr19:45777490	DMPK	G239D, G328D, G338D, G354D	Steinert myotonic dystrophy syndrome	Uncertain significance (Feb 28, 2019)	criteria provided, single submitter
Select item 24408833.	NM_004409.5(DMPK):c.1580T>G (p.Leu527Arg) GRCh37: Chr19:46274846 GRCh38: Chr19:45771588	DMPK, DM1-AS, LOC107075317	L438R, L522R, L527R, L537R, L553R	Steinert myotonic dystrophy syndrome	Uncertain significance (Apr 4, 2019)	criteria provided, single submitter
Select item 24408824.	NM_004409.5(DMPK):c.628C>T (p.Arg210Cys) GRCh37: Chr19:46281432 GRCh38: Chr19:45778174	DMPK	R121C, R210C, R220C, R236C	Steinert myotonic dystrophy syndrome	Uncertain significance (Mar 5, 2019)	criteria provided, single submitter
Select item 24408815.	NM_004409.5(DMPK):c.1178C>T (p.Pro393Leu) GRCh37: Chr19:46278261 GRCh38: Chr19:45775003	DMPK	P304L, P388L, P393L, P403L, P419L	Steinert myotonic dystrophy syndrome	Uncertain significance (Jul 18, 2019)	criteria provided, single submitter
Select item 24408806.	NM_004409.5(DMPK):c.161-131G>T GRCh37: Chr19:46283258 GRCh38: Chr19:45780000	DMPK	W20C	Steinert myotonic dystrophy syndrome	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 24408797.	NM_004409.5(DMPK):c.1685C>T (p.Pro562Leu) GRCh37: Chr19:46274281 GRCh38: Chr19:45771023	LOC107075317, DMPK, DM1-AS	P557L, P562L, P572L, P588L, R472C, R556C	Steinert myotonic dystrophy syndrome	Uncertain significance (Jun 6, 2019)	criteria provided, single submitter
Select item 9736118.	NC_000019.9:g.46273465GCA[(?_35)] GRCh37: Chr19:46273465	DMPK		Steinert myotonic dystrophy syndrome	Benign (Oct 8, 2015)	practice guideline
Select item 9736099.	NC_000019.9:g.46273465GCA[(49_?)] GRCh37: Chr19:46273465	DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Oct 8, 2015)	practice guideline
Select item 81084810.	NM_004409.5(DMPK):c.*224CTG[32] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC109461477, LOC107075317, DM1-AS, DMPK		Steinert myotonic dystrophy syndrome	Conflicting interpretations of pathogenicity (Nov 26, 2019)	criteria provided, conflicting interpretations
Select item 81082811.	NM_004409.5(DMPK):c.*224CTG[330] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DMPK, LOC107075317, DM1-AS, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81082712.	NM_004409.5(DMPK):c.*224CTG[25] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, LOC107075317, DMPK, LOC109461477		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81082613.	NM_004409.5(DMPK):c.*224CTG[230] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, LOC107075317, LOC109461477, DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81082514.	NM_004409.5(DMPK):c.*224CTG[280] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC109461477, DMPK, DM1-AS, LOC107075317		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81082415.	NM_004409.5(DMPK):c.*224CTG[17] GRCh37: Chr19:46273463-46273471 GRCh38: Chr19:45770205-45770213	LOC109461477, DMPK, LOC107075317, DM1-AS		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81082316.	NM_004409.5(DMPK):c.*224CTG[1] GRCh37: Chr19:46273463-46273519 GRCh38: Chr19:45770205-45770261	LOC109461477, DMPK, LOC107075317, DM1-AS		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81082217.	NM_004409.5(DMPK):c.*224CTG[36] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC109461477, LOC107075317		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81082118.	NM_004409.5(DMPK):c.*224CTG[58] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC107075317, DMPK, LOC109461477, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81082019.	NM_004409.5(DMPK):c.*224CTG[42] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC107075317, DM1-AS, LOC109461477, DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81081920.	NM_004409.5(DMPK):c.*224CTG[37] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC107075317, LOC109461477, DMPK, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81081821.	NM_004409.5(DMPK):c.*224CTG[45] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DMPK, LOC107075317, LOC109461477, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81081722.	NM_004409.5(DMPK):c.*224CTG[61] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, LOC109461477, DMPK, LOC107075317		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81081623.	NM_004409.5(DMPK):c.*224CTG[57] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC109461477, LOC107075317, DMPK, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81081524.	NM_004409.5(DMPK):c.*224CTG[130] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC107075317, DM1-AS, LOC109461477, DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81081425.	NM_004409.5(DMPK):c.*224CTG[73] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, LOC109461477, LOC107075317, DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81081326.	NM_004409.5(DMPK):c.*224CTG[49] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DMPK, LOC107075317, DM1-AS, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81081227.	NM_004409.5(DMPK):c.*224CTG[33] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81081128.	NM_004409.5(DMPK):c.*224CTG[29] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DMPK, LOC109461477, DM1-AS, LOC107075317		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81081029.	NM_004409.5(DMPK):c.*224CTG[23] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, LOC109461477, DMPK, LOC107075317		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81080830.	NM_004409.5(DMPK):c.*224CTG[86] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DMPK, LOC109461477, LOC107075317, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81080731.	NM_004409.5(DMPK):c.*224CTG[100] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC109461477, DM1-AS, LOC107075317, DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81080632.	NM_004409.5(DMPK):c.*224CTG[55] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC107075317, DMPK, DM1-AS, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81080533.	NM_004409.5(DMPK):c.*224CTG[21] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, LOC109461477, LOC107075317, DMPK		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81080434.	NM_004409.5(DMPK):c.*224CTG[30] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, LOC109461477, LOC107075317, DMPK		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81080335.	NM_004409.5(DMPK):c.*224CTG[22] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC109461477, LOC107075317, DM1-AS, DMPK		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81080236.	NM_004409.5(DMPK):c.*224CTG[51] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC107075317, DM1-AS, DMPK, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81080137.	NM_004409.5(DMPK):c.*224CTG[43] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DMPK, LOC109461477, LOC107075317, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81080038.	NM_004409.5(DMPK):c.*224CTG[40] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC107075317, DM1-AS, DMPK, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81079939.	NM_004409.5(DMPK):c.*224CTG[34] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, LOC107075317, LOC109461477, DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81079840.	NM_004409.5(DMPK):c.*224CTG[27] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC107075317, DM1-AS, DMPK, LOC109461477		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81079741.	NM_004409.5(DMPK):c.*224CTG[28] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC109461477, LOC107075317, DM1-AS, DMPK		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81079642.	NM_004409.5(DMPK):c.*224CTG[47] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DMPK, LOC109461477, LOC107075317, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81079543.	NM_004409.5(DMPK):c.*224CTG[31] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DMPK, LOC107075317, LOC109461477, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81079444.	NM_004409.5(DMPK):c.224_283= GRCh37: Chr19:46273463-46273522 GRCh38: Chr19:45770205-45770264	DMPK, DM1-AS, LOC109461477, LOC107075317		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81079345.	NM_004409.5(DMPK):c.*224CTG[35] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC109461477, DMPK, DM1-AS, LOC107075317		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81079246.	NM_004409.5(DMPK):c.*224CTG[44] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, LOC109461477, DMPK, LOC107075317		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81079147.	NM_004409.5(DMPK):c.*224CTG[39] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC109461477, DMPK, LOC107075317, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81079048.	NM_004409.5(DMPK):c.*224CTG[41] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81078949.	NM_004409.5(DMPK):c.*224CTG[24] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, LOC107075317, DMPK, LOC109461477		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 81078850.	NM_004409.5(DMPK):c.*224CTG[117] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81078751.	NM_004409.5(DMPK):c.*224CTG[180] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DMPK, LOC109461477, LOC107075317, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81078652.	NM_004409.5(DMPK):c.*224CTG[38] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 81078553.	NM_004409.5(DMPK):c.*224CTG[19] GRCh37: Chr19:46273463-46273465 GRCh38: Chr19:45770205-45770207	DMPK, LOC107075317, LOC109461477, DM1-AS		Steinert myotonic dystrophy syndrome	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 80586954.	NM_004409.4:c.224_283CTG[(271_852)]CCG[1]CTG[17]CCG[1]CTG[29]	DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Sep 13, 2019)	no assertion criteria provided
Select item 80586855.	NM_004409.4:c.224_283CTG[(510_860)]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[2]CCG[3]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[18]	DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Sep 13, 2019)	no assertion criteria provided
Select item 80586756.	NM_004409.4:c.224_283CTG[329]NNN[(?)]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[18]	DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Sep 13, 2019)	no assertion criteria provided
Select item 80586657.	NM_004409.4:c.224_283CTG[(192_602)]CCG[1]CTG[8]CCG[2]CTG[2]CCG[1]CTG[4]CCG[1]CTG[30]	DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Sep 13, 2019)	no assertion criteria provided
Select item 80586558.	NM_004409.4:c.*224CTG[173_283]CCG[1]CTG[8]CCG[2]CTG[2]CCG[1]CTG[4]CCG[1]CTG[30]	DMPK		Steinert myotonic dystrophy syndrome	Likely pathogenic (Sep 13, 2019)	no assertion criteria provided
Select item 63852459.	NM_004409.5(DMPK):c.395C>G (p.Thr132Arg) GRCh37: Chr19:46282559 GRCh38: Chr19:45779301	DMPK	T132R, T142R, T158R, T43R	Steinert myotonic dystrophy syndrome	Uncertain significance (Apr 27, 2019)	criteria provided, single submitter
Select item 63456460.	NM_004409.5(DMPK):c.1789G>A (p.Val597Ile) GRCh37: Chr19:46273847 GRCh38: Chr19:45770589	DM1-AS, DMPK, LOC107075317	V597I, V607I, V592I, V623I	Steinert myotonic dystrophy syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 62336061.	NM_004409.5(DMPK):c.*224CTG[110] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Dec 30, 2017)	criteria provided, single submitter
Select item 58752162.	NM_004409.5(DMPK):c.931C>T (p.Arg311Ter) GRCh37: Chr19:46280800 GRCh38: Chr19:45777542	DMPK	R311, R321, R337, R222	Steinert myotonic dystrophy syndrome	Uncertain significance (Feb 6, 2021)	criteria provided, single submitter
Select item 52376463.	NM_004409.5(DMPK):c.*224CTG[496] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Mar 14, 2018)	no assertion criteria provided
Select item 52376164.	NM_004409.5(DMPK):c.*224CTG[90] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Mar 14, 2018)	no assertion criteria provided
Select item 52376065.	NM_004409.5(DMPK):c.*224CTG[288] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Mar 14, 2018)	no assertion criteria provided
Select item 52375966.	NM_004409.5(DMPK):c.*224CTG[105] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Mar 14, 2018)	no assertion criteria provided
Select item 52375867.	NM_004409.5(DMPK):c.*224CTG[383] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Mar 14, 2018)	no assertion criteria provided
Select item 52375768.	NM_004409.5(DMPK):c.*224CTG[597] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Mar 14, 2018)	no assertion criteria provided
Select item 52375669.	NC_000019.10:g.45770205_45770264CAG[(15_23)]CAGCAGCGG[(10_14)]CAG[(260_320)] GRCh38: Chr19:45770205-45770264	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Mar 14, 2018)	no assertion criteria provided
Select item 52375570.	NC_000019.10:g.45770205_45770264CAG[(41_59)]CGG[1]CAG[(200_300)] GRCh38: Chr19:45770205-45770264	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Mar 14, 2018)	no assertion criteria provided
Select item 52375471.	NC_000019.10:g.45770205_45770264CAG[(53_67)]CAGGCC[(53_67)]CAG[(180_230)] GRCh38: Chr19:45770205-45770264	LOC109461477, DM1-AS, DMPK, LOC107075317		Steinert myotonic dystrophy syndrome	Pathogenic (Mar 14, 2018)	no assertion criteria provided
Select item 52304472.	NM_004409.5(DMPK):c.1837G>T (p.Ala613Ser) GRCh37: Chr19:46273799 GRCh38: Chr19:45770541	DM1-AS, DMPK, LOC107075317	A613S, A639S, A623S, A608S	Steinert myotonic dystrophy syndrome	Likely benign (May 3, 2020)	criteria provided, single submitter
Select item 37495073.	NM_004409.5(DMPK):c.1324G>A (p.Val442Met) GRCh37: Chr19:46275919 GRCh38: Chr19:45772661	DMPK, LOC107075317	V437M, V442M, V468M, V353M, V452M	Inborn genetic diseases	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 25421474.	NM_001081563.2(DMPK):c.224_283CTG[28]CCG[2]CTG[2]CCG[1]CTG[88] GRCh38: Chr19:45770205-45770264	LOC109461477, DM1-AS, DMPK, LOC107075317		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 25421375.	NM_001081563.2(DMPK):c.224_283CTG[30]CCG[2]CTG[2]CCG[1]CTG[105] GRCh38: Chr19:45770205-45770264	DM1-AS, LOC109461477, LOC107075317, DMPK		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18804376.	NM_004409.5(DMPK):c.*224CTG[98] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18804277.	NM_004409.5(DMPK):c.*224CTG[96] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18804178.	NM_004409.5(DMPK):c.*224CTG[93] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18804079.	NM_004409.5(DMPK):c.*224CTG[92] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 18803980.	NM_004409.5(DMPK):c.*224CTG[887] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18803881.	NM_004409.5(DMPK):c.*224CTG[88] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DMPK, LOC107075317, LOC109461477, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18803782.	NM_004409.5(DMPK):c.*224CTG[84] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18803683.	NM_004409.5(DMPK):c.*224CTG[83] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18803584.	NM_004409.5(DMPK):c.*224CTG[823] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18803485.	NM_004409.5(DMPK):c.*224CTG[82] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18803386.	NM_004409.5(DMPK):c.*224CTG[816] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18803287.	NM_004409.5(DMPK):c.*224CTG[814] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18803188.	NM_004409.5(DMPK):c.*224CTG[80] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC107075317, LOC109461477, DM1-AS, DMPK		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 18803089.	NM_004409.5(DMPK):c.*224CTG[780] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC107075317, DM1-AS, DMPK, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18802990.	NM_004409.5(DMPK):c.*224CTG[76] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DMPK, LOC107075317, LOC109461477, DM1-AS		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18802891.	NM_004409.5(DMPK):c.*224CTG[758] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18802792.	NM_004409.5(DMPK):c.*224CTG[75] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 18802693.	NM_004409.5(DMPK):c.*224CTG[74] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	LOC109461477, DM1-AS, DMPK, LOC107075317		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18802594.	NM_004409.5(DMPK):c.*224CTG[721] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18802495.	NM_004409.5(DMPK):c.*224CTG[72] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 18802396.	NM_004409.5(DMPK):c.*224CTG[71] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 18802297.	NM_004409.5(DMPK):c.*224CTG[69] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 18802198.	NM_004409.5(DMPK):c.*224CTG[688] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 18802099.	NM_004409.5(DMPK):c.*224CTG[68] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided
Select item 188019100.	NM_004409.5(DMPK):c.*224CTG[666] GRCh37: Chr19:46273462-46273463 GRCh38: Chr19:45770204-45770205	DM1-AS, DMPK, LOC107075317, LOC109461477		Steinert myotonic dystrophy syndrome	Pathogenic	no assertion criteria provided

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