DMPK[gene] and "single gene"[properties] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2592198	NM_004409.5(DMPK):c.1208A>G (p.Tyr403Cys)	DMPK (Y314C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440881	NM_004409.5(DMPK):c.1178C>T (p.Pro393Leu)	DMPK (P304L +5 more)	Single nucleotide variant (missense variant)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2265990	NM_004409.5(DMPK):c.1137C>A (p.Ser379Arg)	DMPK (S290R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083097	NM_004409.5(DMPK):c.1126G>C (p.Ala376Pro)	DMPK (A229P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083096	NM_004409.5(DMPK):c.1117G>A (p.Gly373Arg)	DMPK (G226R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283931	NM_004409.5(DMPK):c.1075G>A (p.Glu359Lys)	DMPK (E369K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053136	NM_004409.5(DMPK):c.1010C>G (p.Pro337Arg)	DMPK (P190R +4 more)	Single nucleotide variant (missense variant)	DMPK-related disorder	GLikely benign
Select item 2485290	NM_004409.5(DMPK):c.989C>T (p.Ala330Val)	DMPK (A241V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440884	NM_004409.5(DMPK):c.983G>A (p.Gly328Asp)	DMPK (G239D +4 more)	Single nucleotide variant (missense variant)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 3046916	NM_004409.5(DMPK):c.978C>T (p.Gly326=)	DMPK	Single nucleotide variant (synonymous variant)	DMPK-related disorder	GLikely benign
Select item 2395625	NM_004409.5(DMPK):c.932G>A (p.Arg311Gln)	DMPK (R321Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 587521	NM_004409.5(DMPK):c.931C>T (p.Arg311Ter)	DMPK (R311* +4 more)	Single nucleotide variant (nonsense)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2347046	NM_004409.5(DMPK):c.910G>A (p.Glu304Lys)	DMPK (E330K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256961	NM_004409.5(DMPK):c.893C>T (p.Ser298Phe)	DMPK (S151F +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3050143	NM_004409.5(DMPK):c.888C>T (p.His296=)	DMPK	Single nucleotide variant (synonymous variant)	DMPK-related disorder	GLikely benign
Select item 445722	NM_004409.5(DMPK):c.882+8C>T	DMPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2478123	NM_004409.5(DMPK):c.869T>A (p.Ile290Asn)	DMPK (I290N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272402	NM_004409.5(DMPK):c.863G>T (p.Gly288Val)	DMPK (G288V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083106	NM_004409.5(DMPK):c.848C>T (p.Thr283Met)	DMPK (T194M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382743	NM_004409.5(DMPK):c.818A>G (p.Tyr273Cys)	DMPK (Y273C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037145	NM_004409.5(DMPK):c.675G>A (p.Thr225=)	DMPK	Single nucleotide variant (synonymous variant)	DMPK-related disorder	GLikely benign
Select item 183365	NM_004409.5(DMPK):c.674C>T (p.Thr225Met)	DMPK (T225M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 496654	NM_004409.5(DMPK):c.643G>A (p.Gly215Ser)	DMPK (G215S +4 more)	Single nucleotide variant (missense variant)	Myotonic dystrophy	GUncertain significance
Select item 2440882	NM_004409.5(DMPK):c.628C>T (p.Arg210Cys)	DMPK (R121C +4 more)	Single nucleotide variant (missense variant)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2234083	NM_004409.5(DMPK):c.586A>C (p.Ile196Leu)	DMPK (I196L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 222552	NM_004409.5(DMPK):c.582-6G>C	DMPK	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 128902	NM_004409.5(DMPK):c.581+6T>C	DMPK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3083104	NM_004409.5(DMPK):c.515C>T (p.Ala172Val)	DMPK (A198V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 128901	NM_004409.5(DMPK):c.504G>A (p.Pro168=)	DMPK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 128900	NM_004409.5(DMPK):c.456G>A (p.Val152=)	DMPK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2215954	NM_004409.5(DMPK):c.454G>A (p.Val152Met)	DMPK (V178M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280155	NM_004409.5(DMPK):c.428A>C (p.Tyr143Ser)	DMPK (Y153S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 638524	NM_004409.5(DMPK):c.395C>G (p.Thr132Arg)	DMPK (T132R +3 more)	Single nucleotide variant (missense variant +1 more)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2609071	NM_004409.5(DMPK):c.305T>C (p.Met102Thr)	DMPK (M102T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083103	NM_004409.5(DMPK):c.276G>C (p.Gln92His)	DMPK (Q3H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524379	NM_004409.5(DMPK):c.272A>G (p.Lys91Arg)	DMPK (K117R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3047270	NM_004409.5(DMPK):c.267G>A (p.Lys89=)	DMPK	Single nucleotide variant (synonymous variant +1 more)	DMPK-related disorder	GLikely benign
Select item 3043661	NM_004409.5(DMPK):c.205G>A (p.Asp69Asn)	DMPK (D69N +2 more)	Single nucleotide variant (missense variant +1 more)	DMPK-related disorder	GBenign
Select item 1878426	NM_004409.5(DMPK):c.171del (p.Ile57fs)	DMPK (I67fs +2 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1298773	NM_004409.5(DMPK):c.161C>G (p.Ala54Gly)	DMPK (A54G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1175073	NM_004409.5(DMPK):c.161-3dup	DMPK (A64fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3053326	NM_004409.5(DMPK):c.161-5C>G	DMPK	Single nucleotide variant (synonymous variant +1 more)	DMPK-related disorder	GLikely benign
Select item 2292406	NM_004409.5(DMPK):c.161-48G>C	DMPK (S48T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 402594	NM_004409.5(DMPK):c.161-58dup	DMPK (L45fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3272407	NM_004409.5(DMPK):c.161-90A>G	DMPK (K34R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3083107	NM_004409.5(DMPK):c.161-99G>T	DMPK (G31V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523255	NM_004409.5(DMPK):c.161-106C>A	DMPK (L29M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083105	NM_004409.5(DMPK):c.161-115A>G	DMPK (R26G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 222551	NM_004409.5(DMPK):c.161-189T>C	DMPK (M1T)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GUncertain significance
Select item 1285222	NM_004409.5(DMPK):c.161-459C>T	DMPK (S78F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2596393	NM_004409.5(DMPK):c.103G>A (p.Glu35Lys)	DMPK (E35K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392281	NM_004409.5(DMPK):c.97C>T (p.His33Tyr)	DMPK (P39L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545254	NM_004409.5(DMPK):c.44T>G (p.Leu15Trp)	DMPK (L15W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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

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Items: 61