"Ambry Genetics"[submitter] AND "DNM1"[gene] - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2296981	NM_004408.4(DNM1):c.14G>T (p.Gly5Val)	CIZ1, DNM1 (G5V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1731036	NM_004408.4(DNM1):c.33G>A (p.Pro11=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 985462	NM_004408.4(DNM1):c.34C>A (p.Leu12Met)	DNM1, CIZ1 (L12M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 380950	NM_004408.4(DNM1):c.46C>A (p.Leu16Met)	CIZ1, DNM1 (L16M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 1763636	NM_004408.4(DNM1):c.84C>T (p.Asp28=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31A +1 more	GBenign
Select item 1764707	NM_004408.4(DNM1):c.87C>A (p.Leu29=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 520545	NM_004408.4(DNM1):c.127G>A (p.Gly43Ser)	CIZ1, DNM1 (G43S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 520840	NM_004408.4(DNM1):c.134G>A (p.Ser45Asn)	DNM1, CIZ1 (S45N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2243846	NM_004408.4(DNM1):c.185G>A (p.Gly62Asp)	DNM1, LOC113839516 (G62D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588416	NM_004408.4(DNM1):c.224A>G (p.Asn75Ser)	DNM1, LOC113839516 (N75S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +1 more	GLikely benign
Select item 959310	NM_004408.4(DNM1):c.261G>A (p.Lys87=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A +1 more	GBenign/Likely benign
Select item 1569925	NM_004408.4(DNM1):c.263_264delinsCT (p.Gly88Ala)	DNM1, LOC113839516 (G88A)	Indel (missense variant)	Developmental and epileptic encephalopathy, 31A +1 more	GConflicting classifications of pathogenicity
Select item 380778	NM_004408.4(DNM1):c.312G>A (p.Glu104=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 383891	NM_004408.4(DNM1):c.332C>G (p.Thr111Ser)	LOC113839516, DNM1 (T111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1732142	NM_004408.4(DNM1):c.350C>G (p.Pro117Arg)	DNM1, LOC113839516 (P117R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1732780	NM_004408.4(DNM1):c.356C>T (p.Pro119Leu)	DNM1, LOC113839516 (P119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 383230	NM_004408.4(DNM1):c.357T>C (p.Pro119=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 588754	NM_004408.4(DNM1):c.414C>T (p.Pro138=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588356	NM_004408.4(DNM1):c.415G>A (p.Gly139Arg)	DNM1, LOC113839516 (G139R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +1 more	GLikely pathogenic
Select item 2230348	NM_004408.4(DNM1):c.434_436del (p.Val145del)	DNM1, LOC113839516 (V145del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 388987	NM_004408.4(DNM1):c.450C>G (p.Pro150=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A +2 more	GBenign/Likely benign
Select item 587898	NM_004408.4(DNM1):c.474C>T (p.Asp158=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A +2 more	GBenign/Likely benign
Select item 1744042	NM_004408.4(DNM1):c.490G>A (p.Val164Ile)	DNM1, LOC113839516 (V164I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729749	NM_004408.4(DNM1):c.543G>A (p.Leu181=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A +1 more	GBenign/Likely benign
Select item 2256702	NM_004408.4(DNM1):c.583C>A (p.Pro195Thr)	DNM1, LOC113839516 (P195T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +1 more	GUncertain significance
Select item 587877	NM_004408.4(DNM1):c.589+4G>T	LOC113839516, DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A +1 more	GUncertain significance
Select item 509561	NM_004408.4(DNM1):c.633C>T (p.Asp211=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 590076	NM_004408.4(DNM1):c.636G>A (p.Glu212=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2167117	NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)	DNM1 (P226S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +1 more	GUncertain significance
Select item 589912	NM_004408.4(DNM1):c.702G>A (p.Val234=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 280148	NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)	DNM1 (R237W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +2 more	GPathogenic
Select item 520714	NM_004408.4(DNM1):c.713G>T (p.Ser238Ile)	DNM1 (S238I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 388205	NM_004408.4(DNM1):c.747C>T (p.Thr249=)	DNM1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1761283	NM_004408.4(DNM1):c.792T>A (p.Ser264=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A +1 more	GLikely benign
Select item 658850	NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)	DNM1 (R266C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1009862	NM_004408.4(DNM1):c.811C>T (p.Arg271Cys)	DNM1 (R271C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 392029	NM_004408.4(DNM1):c.822G>A (p.Thr274=)	DNM1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 3084764	NM_004408.4(DNM1):c.837G>C (p.Lys279Asn)	DNM1 (K279N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 389002	NM_004408.4(DNM1):c.849+6C>T	DNM1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1766136	NM_004408.4(DNM1):c.919A>G (p.Ile307Val)	DNM1 (I307V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 380777	NM_004408.4(DNM1):c.1008C>T (p.Phe336=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 1737200	NM_004408.4(DNM1):c.1013T>C (p.Val338Ala)	DNM1 (V338A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1766776	NM_004408.4(DNM1):c.1023G>A (p.Glu341=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1770174	NM_004408.4(DNM1):c.1028G>T (p.Arg343Leu)	DNM1 (R343L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1774566	NM_004408.4(DNM1):c.1042G>A (p.Gly348Arg)	DNM1 (G348R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 380913	NM_004408.4(DNM1):c.1062C>T (p.Tyr354=)	DNM1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 520737	NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg)	DNM1 (G359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 588520	NM_004408.4(DNM1):c.1116C>T (p.Phe372=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 542685	NM_004408.4(DNM1):c.1161G>A (p.Glu387=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A +1 more	GLikely benign
Select item 520569	NM_004408.4(DNM1):c.1190G>A (p.Gly397Asp)	DNM1 (G397D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 385288	NM_004408.4(DNM1):c.1200G>A (p.Thr400=)	DNM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 476058	NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter)	DNM1 (R421*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 31A +1 more	GConflicting classifications of pathogenicity
Select item 646235	NM_004408.4(DNM1):c.1315G>A (p.Val439Ile)	DNM1 (V439I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1091092	NM_004408.4(DNM1):c.1356A>G (p.Leu452=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A +1 more	GLikely benign
Select item 513534	NM_004408.4(DNM1):c.1386C>T (p.Thr462=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 521971	NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys)	DNM1 (R467C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 508345	NM_004408.4(DNM1):c.1437C>T (p.Ile479=)	DNM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 385482	NM_004408.4(DNM1):c.1558-3C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A +2 more	GConflicting classifications of pathogenicity
Select item 506647	NM_004408.4(DNM1):c.1586A>G (p.Asn529Ser)	DNM1 (N529S)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 521642	NM_004408.4(DNM1):c.1610G>A (p.Gly537Asp)	DNM1 (G537D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 746859	NM_004408.4(DNM1):c.1617G>A (p.Lys539=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 385138	NM_004408.4(DNM1):c.1707C>T (p.Asn569=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 383871	NM_004408.4(DNM1):c.1764C>T (p.Leu588=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 2551489	NM_004408.4(DNM1):c.1769A>G (p.Asn590Ser)	DNM1 (N590S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1779995	NM_004408.4(DNM1):c.1781+4C>A	DNM1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1780412	NM_004408.4(DNM1):c.1801C>T (p.Arg601Trp)	DNM1 (R601W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1782214	NM_004408.4(DNM1):c.1899A>G (p.Lys633=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589076	NM_004408.4(DNM1):c.2113C>T (p.Leu705=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1786636	NM_004408.4(DNM1):c.2144T>C (p.Met715Thr)	DNM1 (M715T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 514138	NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu)	DNM1 (D726E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 590036	NM_004408.4(DNM1):c.2232C>T (p.Asp744=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 542679	NM_004408.4(DNM1):c.2364G>A (p.Val788=)	DNM1, LOC130002698	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 589843	NM_004408.4(DNM1):c.2390G>T (p.Gly797Val)	DNM1, LOC130002698 (G797V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 387422	NM_004408.4(DNM1):c.2420C>G (p.Ser807Cys)	DNM1, LOC130002699 (S807C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +2 more	GConflicting classifications of pathogenicity
Select item 662595	NM_004408.4(DNM1):c.2429G>T (p.Gly810Val)	DNM1, LOC130002699 (G810V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +2 more	GBenign/Likely benign
Select item 476064	NM_004408.4(DNM1):c.2430G>A (p.Gly810=)	DNM1, LOC130002699	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 589563	NM_004408.4(DNM1):c.2447C>A (p.Pro816His)	DNM1, LOC130002699 (P816H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 854620	NM_004408.4(DNM1):c.2474C>T (p.Pro825Leu)	DNM1, LOC130002699 (P825L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 569003	NM_004408.4(DNM1):c.2531C>G (p.Pro844Arg)	DNM1 (P844R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +1 more	GConflicting classifications of pathogenicity
Select item 588096	NM_004408.4(DNM1):c.2535-2A>G	DNM1	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 476065	NM_004408.4(DNM1):c.2541G>A (p.Ser847=)	DNM1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 31A +2 more	GBenign/Likely benign
Select item 589826	NM_004408.4(DNM1):c.2560C>T (p.Arg854Cys)	DNM1 (R854C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 810426	NM_004408.4(DNM1):c.2561G>A (p.Arg854His)	DNM1 (R854H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 590032	NM_004408.4(DNM1):c.2582C>A (p.Pro861His)	DNM1 (P861H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 84