DNM1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705841	NM_004408.4(DNM1):c.590-2A>G	DNM1	Single nucleotide variant (splice acceptor variant)	Lennox-Gastaut syndrome +1 more	GPathogenic
Select item 1499073	NM_004408.4(DNM1):c.595C>T (p.Arg199Cys)	DNM1 (R199C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 833851	NM_004408.4(DNM1):c.599C>T (p.Thr200Ile)	DNM1 (T200I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 3009478	NM_004408.4(DNM1):c.603C>G (p.Ile201Met)	DNM1 (I201M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1566298	NM_004408.4(DNM1):c.603C>T (p.Ile201=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1721519	NM_004408.4(DNM1):c.604G>T (p.Gly202Trp)	DNM1 (G202W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 392616	NM_004408.4(DNM1):c.604G>A (p.Gly202Arg)	DNM1 (G202R)	Single nucleotide variant (missense variant)	DNM1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1140017	NM_004408.4(DNM1):c.609C>T (p.Val203=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 388121	NM_004408.4(DNM1):c.612C>T (p.Ile204=)	DNM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 156558	NM_004408.4(DNM1):c.618G>C (p.Lys206Asn)	DNM1 (K206N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GPathogenic
Select item 476067	NM_004408.4(DNM1):c.624C>T (p.Asp208=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1803022	NM_004408.4(DNM1):c.632A>T (p.Asp211Val)	DNM1 (D211V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GLikely pathogenic
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 654007	NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr)	DNM1	Indel (inframe_indel)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2088873	NM_004408.4(DNM1):c.644A>T (p.Asp215Val)	DNM1 (D215V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2573062	NM_004408.4(DNM1):c.646G>A (p.Ala216Thr)	DNM1 (A216T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2581492	NM_004408.4(DNM1):c.649C>T (p.Arg217Cys)	DNM1 (R217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 957158	NM_004408.4(DNM1):c.650G>A (p.Arg217His)	DNM1 (R217H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2085838	NM_004408.4(DNM1):c.654T>G (p.Asp218Glu)	DNM1 (D218E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1555679	NM_004408.4(DNM1):c.669G>A (p.Lys223=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2581857	NM_004408.4(DNM1):c.679dup (p.Leu227fs)	DNM1 (L227fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2167117	NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)	DNM1 (P226S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1674611	NM_004408.4(DNM1):c.678C>G (p.Pro226=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2797778	NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)	DNM1 (L227R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1019613	NM_004408.4(DNM1):c.682C>T (p.Arg228Cys)	DNM1 (R228C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1531375	NM_004408.4(DNM1):c.683G>A (p.Arg228His)	DNM1 (R228H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +1 more	GConflicting classifications of pathogenicity
Select item 1015698	NM_004408.4(DNM1):c.685A>G (p.Arg229Gly)	DNM1 (R229G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1559750	NM_004408.4(DNM1):c.688+11C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2975203	NM_004408.4(DNM1):c.688+13T>C	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2185556	NM_004408.4(DNM1):c.688+16C>G	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2143302	NM_004408.4(DNM1):c.688+16C>A	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2778141	NM_004408.4(DNM1):c.688+17C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2820542	NM_004408.4(DNM1):c.688+18C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1663435	NM_004408.4(DNM1):c.688+18C>G	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 679300	NM_004408.4(DNM1):c.689-44C>T	DNM1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2996665	NM_004408.4(DNM1):c.689-11A>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1546919	NM_004408.4(DNM1):c.689-8G>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2760222	NM_004408.4(DNM1):c.689-7T>C	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 972317	NM_004408.4(DNM1):c.689G>A (p.Gly230Asp)	DNM1 (G230D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1919043	NM_004408.4(DNM1):c.694A>G (p.Ile232Val)	DNM1 (I232V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 649956	NM_004408.4(DNM1):c.695T>C (p.Ile232Thr)	DNM1 (I232T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2577737	NM_004408.4(DNM1):c.701T>G (p.Val234Gly)	DNM1 (V234G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589912	NM_004408.4(DNM1):c.702G>A (p.Val234=)	DNM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1395355	NM_004408.4(DNM1):c.703G>A (p.Val235Met)	DNM1 (V235M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 280148	NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)	DNM1 (R237W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2866713	NM_004408.4(DNM1):c.718_720del (p.Lys240del)	DNM1 (K240del)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1659783	NM_004408.4(DNM1):c.720G>A (p.Lys240=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2798057	NM_004408.4(DNM1):c.723C>T (p.Asp241=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2440954	NM_004408.4(DNM1):c.724A>G (p.Ile242Val)	DNM1 (I242V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388064	NM_004408.4(DNM1):c.725T>C (p.Ile242Thr)	DNM1 (I242T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2662564	NM_004408.4(DNM1):c.739G>A (p.Asp247Asn)	DNM1 (D247N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870760	NM_004408.4(DNM1):c.741C>T (p.Asp247=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2828918	NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)	DNM1 (T249A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 388205	NM_004408.4(DNM1):c.747C>T (p.Thr249=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 476068	NM_004408.4(DNM1):c.748G>A (p.Ala250Thr)	DNM1 (A250T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GBenign
Select item 1603972	NM_004408.4(DNM1):c.750C>T (p.Ala250=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1135829	NM_004408.4(DNM1):c.753C>T (p.Ala251=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1482353	NM_004408.4(DNM1):c.757G>T (p.Ala253Ser)	DNM1 (A253S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +1 more	GConflicting classifications of pathogenicity
Select item 833818	NM_004408.4(DNM1):c.766C>T (p.Arg256Ter)	DNM1 (R256*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 3014477	NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)	DNM1 (R256Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1386547	NM_004408.4(DNM1):c.767del (p.Arg256fs)	DNM1 (R256fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 31	GPathogenic
Select item 1000714	NM_004408.4(DNM1):c.774C>G (p.Phe258Leu)	DNM1 (F258L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 838926	NM_004408.4(DNM1):c.775T>C (p.Phe259Leu)	DNM1 (F259L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2971442	NM_004408.4(DNM1):c.780C>G (p.Leu260=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1426692	NM_004408.4(DNM1):c.786T>A (p.His262Gln)	DNM1 (H262Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1315543	NM_004408.4(DNM1):c.788C>T (p.Pro263Leu)	DNM1 (P263L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508025	NM_004408.4(DNM1):c.791C>A (p.Ser264Tyr)	DNM1 (S264Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1761283	NM_004408.4(DNM1):c.792T>A (p.Ser264=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1438580	NM_004408.4(DNM1):c.796C>A (p.Arg266Ser)	DNM1 (R266S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 658850	NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)	DNM1 (R266C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 476069	NM_004408.4(DNM1):c.797G>A (p.Arg266His)	DNM1 (R266H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2812880	NM_004408.4(DNM1):c.801C>T (p.His267=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 847899	NM_004408.4(DNM1):c.804G>A (p.Leu268=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 792199	NM_004408.4(DNM1):c.807T>C (p.Ala269=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1009862	NM_004408.4(DNM1):c.811C>T (p.Arg271Cys)	DNM1 (R271C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +1 more	GUncertain significance
Select item 1478262	NM_004408.4(DNM1):c.812G>A (p.Arg271His)	DNM1 (R271H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +2 more	GUncertain significance
Select item 1430126	NM_004408.4(DNM1):c.821C>T (p.Thr274Met)	DNM1 (T274M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +1 more	GUncertain significance
Select item 392029	NM_004408.4(DNM1):c.822G>A (p.Thr274=)	DNM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 857447	NM_004408.4(DNM1):c.824C>T (p.Pro275Leu)	DNM1 (P275L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 665090	NM_004408.4(DNM1):c.825C>G (p.Pro275=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GBenign
Select item 1690581	NM_004408.4(DNM1):c.827A>G (p.Tyr276Cys)	DNM1 (Y276C)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
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 1649333	NM_004408.4(DNM1):c.843C>T (p.Leu281=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2741867	NM_004408.4(DNM1):c.845A>G (p.Asn282Ser)	DNM1 (N282S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2440951	NM_004408.4(DNM1):c.849+3A>G	DNM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 389002	NM_004408.4(DNM1):c.849+6C>T	DNM1	Single nucleotide variant (intron variant)	DNM1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1109200	NM_004408.4(DNM1):c.849+7G>A	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1139750	NM_004408.4(DNM1):c.849+10C>A	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1217386	NM_004408.4(DNM1):c.849+95T>G	DNM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679301	NM_004408.4(DNM1):c.850-46C>A	DNM1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 677417	NM_004408.4(DNM1):c.850-23C>G	DNM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511122	NM_004408.4(DNM1):c.850-18C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31 +1 more	GLikely benign
Select item 387214	NM_004408.4(DNM1):c.850-17C>G	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31 +1 more	GLikely benign
Select item 760641	NM_004408.4(DNM1):c.850-8A>G	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2500127	NM_004408.4(DNM1):c.850C>T (p.Gln284Ter)	DNM1 (Q284*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 31B	GPathogenic
Select item 793092	NM_004408.4(DNM1):c.853C>T (p.Leu285=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 430274	NM_004408.4(DNM1):c.854T>A (p.Leu285Gln)	DNM1 (L285Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2148462	NM_004408.4(DNM1):c.858G>A (p.Thr286=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign

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