ClinVar for MedGen (Select 886881) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440885	NM_004409.5(DMPK):c.1754T>C (p.Leu585Pro)	DM1-AS, DMPK +1 more (L580P +5 more)	Single nucleotide variant (missense variant +1 more)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2440884	NM_004409.5(DMPK):c.983G>A (p.Gly328Asp)	DMPK (G239D +3 more)	Single nucleotide variant (missense variant)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2440883	NM_004409.5(DMPK):c.1580T>G (p.Leu527Arg)	DM1-AS, DMPK +1 more (L438R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2440882	NM_004409.5(DMPK):c.628C>T (p.Arg210Cys)	DMPK (R121C +3 more)	Single nucleotide variant (missense variant)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2440881	NM_004409.5(DMPK):c.1178C>T (p.Pro393Leu)	DMPK (P304L +4 more)	Single nucleotide variant (missense variant)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2440880	NM_004409.5(DMPK):c.161-131G>T	DMPK (W20C)	Single nucleotide variant (missense variant +1 more)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2440879	NM_004409.5(DMPK):c.1685C>T (p.Pro562Leu)	LOC129929042, DM1-AS +2 more (P557L +5 more)	Single nucleotide variant (missense variant +1 more)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 973611	NC_000019.9:g.46273465GCA[(?_35)]	DMPK	Microsatellite	Steinert myotonic dystrophy syndrome	GBenign
Select item 973609	NC_000019.9:g.46273465GCA[(49_?)]	DMPK	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810848	NM_004409.5(DMPK):c.*224CTG[32]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GConflicting classifications of pathogenicity
Select item 810828	NM_004409.5(DMPK):c.*224CTG[330]	DMPK, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810827	NM_004409.5(DMPK):c.*224CTG[25]	DM1-AS, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810826	NM_004409.5(DMPK):c.*224CTG[230]	DM1-AS, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810825	NM_004409.5(DMPK):c.*224CTG[280]	LOC109461477, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810824	NM_004409.5(DMPK):c.*224CTG[17]	LOC109461477, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810823	NM_004409.5(DMPK):c.*224CTG[1]	DM1-AS, DMPK +3 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810822	NM_004409.5(DMPK):c.*224CTG[36]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810821	NM_004409.5(DMPK):c.*224CTG[58]	LOC107075317, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810820	NM_004409.5(DMPK):c.*224CTG[42]	LOC107075317, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810819	NM_004409.5(DMPK):c.*224CTG[37]	LOC107075317, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810818	NM_004409.5(DMPK):c.*224CTG[45]	DMPK, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810817	NM_004409.5(DMPK):c.*224CTG[61]	DM1-AS, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810816	NM_004409.5(DMPK):c.*224CTG[57]	LOC109461477, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810815	NM_004409.5(DMPK):c.*224CTG[130]	LOC107075317, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810814	NM_004409.5(DMPK):c.*224CTG[73]	DM1-AS, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810813	NM_004409.5(DMPK):c.*224CTG[49]	DMPK, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810812	NM_004409.5(DMPK):c.*224CTG[33]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810811	NM_004409.5(DMPK):c.*224CTG[29]	DMPK, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810810	NM_004409.5(DMPK):c.*224CTG[23]	DM1-AS, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810808	NM_004409.5(DMPK):c.*224CTG[86]	DMPK, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810807	NM_004409.5(DMPK):c.*224CTG[100]	LOC109461477, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810806	NM_004409.5(DMPK):c.*224CTG[55]	LOC107075317, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810805	NM_004409.5(DMPK):c.*224CTG[21]	DM1-AS, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810804	NM_004409.5(DMPK):c.*224CTG[30]	DM1-AS, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810803	NM_004409.5(DMPK):c.*224CTG[22]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	not provided +1 more	GBenign
Select item 810802	NM_004409.5(DMPK):c.*224CTG[51]	LOC107075317, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810801	NM_004409.5(DMPK):c.*224CTG[43]	DMPK, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810800	NM_004409.5(DMPK):c.*224CTG[40]	LOC107075317, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810799	NM_004409.5(DMPK):c.*224CTG[34]	DM1-AS, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810798	NM_004409.5(DMPK):c.*224CTG[27]	LOC107075317, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810797	NM_004409.5(DMPK):c.*224CTG[28]	LOC109461477, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810796	NM_004409.5(DMPK):c.*224CTG[47]	DMPK, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810795	NM_004409.5(DMPK):c.*224CTG[31]	DMPK, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810794	NM_004409.5(DMPK):c.224_283=	DM1-AS, DMPK +3 more	Microsatellite (no sequence alteration)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810793	NM_004409.5(DMPK):c.*224CTG[35]	LOC109461477, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810792	NM_004409.5(DMPK):c.*224CTG[44]	DM1-AS, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810791	NM_004409.5(DMPK):c.*224CTG[39]	LOC109461477, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810790	NM_004409.5(DMPK):c.*224CTG[41]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810789	NM_004409.5(DMPK):c.*224CTG[24]	DM1-AS, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810788	NM_004409.5(DMPK):c.*224CTG[117]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810787	NM_004409.5(DMPK):c.*224CTG[180]	DMPK, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810786	NM_004409.5(DMPK):c.*224CTG[38]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810785	NM_004409.5(DMPK):c.*224CTG[19]	DMPK, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 805869	NM_004409.4:c.224_283CTG[(271_852)]CCG[1]CTG[17]CCG[1]CTG[29]	DMPK	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 805868	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	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 805867	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	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 805866	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	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 805865	NM_004409.4:c.*224CTG[173_283]CCG[1]CTG[8]CCG[2]CTG[2]CCG[1]CTG[4]CCG[1]CTG[30]	DMPK	Microsatellite	Steinert myotonic dystrophy syndrome	GLikely pathogenic
Select item 638524	NM_004409.5(DMPK):c.395C>G (p.Thr132Arg)	DMPK (T132R +3 more)	Single nucleotide variant (missense variant)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 634564	NM_004409.5(DMPK):c.1789G>A (p.Val597Ile)	LOC107075317, LOC129929041 +2 more (V597I +3 more)	Single nucleotide variant (missense variant +2 more)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 623360	NM_004409.5(DMPK):c.*224CTG[110]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 587521	NM_004409.5(DMPK):c.931C>T (p.Arg311Ter)	DMPK (R311* +3 more)	Single nucleotide variant (nonsense)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 523764	NM_004409.5(DMPK):c.*224CTG[496]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523761	NM_004409.5(DMPK):c.*224CTG[90]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523760	NM_004409.5(DMPK):c.*224CTG[288]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523759	NM_004409.5(DMPK):c.*224CTG[105]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523758	NM_004409.5(DMPK):c.*224CTG[383]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523757	NM_004409.5(DMPK):c.*224CTG[597]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523756	NC_000019.10:g.45770205_45770264CAG[(15_23)]CAGCAGCGG[(10_14)]CAG[(260_320)]	DM1-AS, DMPK +3 more	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523755	NC_000019.10:g.45770205_45770264CAG[(41_59)]CGG[1]CAG[(200_300)]	DM1-AS, DMPK +3 more	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523754	NC_000019.10:g.45770205_45770264CAG[(53_67)]CAGGCC[(53_67)]CAG[(180_230)]	DM1-AS, DMPK +3 more	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523044	NM_004409.5(DMPK):c.1837G>T (p.Ala613Ser)	DM1-AS, DMPK +2 more (A613S +3 more)	Single nucleotide variant (missense variant +2 more)	Steinert myotonic dystrophy syndrome	GLikely benign
Select item 374950	NM_004409.5(DMPK):c.1324G>A (p.Val442Met)	DMPK, LOC107075317 (V437M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 254214	NM_001081563.2(DMPK):c.224_283CTG[28]CCG[2]CTG[2]CCG[1]CTG[88]	DM1-AS, DMPK +3 more	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 254213	NM_001081563.2(DMPK):c.224_283CTG[30]CCG[2]CTG[2]CCG[1]CTG[105]	DM1-AS, DMPK +3 more	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188043	NM_004409.5(DMPK):c.*224CTG[98]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188042	NM_004409.5(DMPK):c.*224CTG[96]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188041	NM_004409.5(DMPK):c.*224CTG[93]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188040	NM_004409.5(DMPK):c.*224CTG[92]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188039	NM_004409.5(DMPK):c.*224CTG[887]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188038	NM_004409.5(DMPK):c.*224CTG[88]	DMPK, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188037	NM_004409.5(DMPK):c.*224CTG[84]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188036	NM_004409.5(DMPK):c.*224CTG[83]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188035	NM_004409.5(DMPK):c.*224CTG[823]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188034	NM_004409.5(DMPK):c.*224CTG[82]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188033	NM_004409.5(DMPK):c.*224CTG[816]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188032	NM_004409.5(DMPK):c.*224CTG[814]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188031	NM_004409.5(DMPK):c.*224CTG[80]	LOC107075317, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188030	NM_004409.5(DMPK):c.*224CTG[780]	LOC107075317, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188029	NM_004409.5(DMPK):c.*224CTG[76]	DMPK, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188028	NM_004409.5(DMPK):c.*224CTG[758]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188027	NM_004409.5(DMPK):c.*224CTG[75]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188026	NM_004409.5(DMPK):c.*224CTG[74]	LOC109461477, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188025	NM_004409.5(DMPK):c.*224CTG[721]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188024	NM_004409.5(DMPK):c.*224CTG[72]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188023	NM_004409.5(DMPK):c.*224CTG[71]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188022	NM_004409.5(DMPK):c.*224CTG[69]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188021	NM_004409.5(DMPK):c.*224CTG[688]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188020	NM_004409.5(DMPK):c.*224CTG[68]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188019	NM_004409.5(DMPK):c.*224CTG[666]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic

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