DNM1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002653, LOC130002654 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 3245266	NC_000009.11:g.(?_130911805)_(131302617_?)dup	LOC130002710, LOC130002711 +43 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1182484	NM_012127.3(CIZ1):c.-6+926T>C	CIZ1, DNM1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384396	NM_004408.4(DNM1):c.-35C>T	CIZ1, DNM1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 385211	NM_004408.4(DNM1):c.-33G>A	CIZ1, DNM1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 512176	NM_004408.4(DNM1):c.-27T>G	CIZ1, DNM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 384406	NM_004408.4(DNM1):c.-17C>A	CIZ1, DNM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 384606	NM_004408.4(DNM1):c.-15G>T	CIZ1, DNM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 515167	NM_004408.4(DNM1):c.-13G>A	CIZ1, DNM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2826088	NM_004408.4(DNM1):c.2T>C (p.Met1Thr)	CIZ1, DNM1 (M1T)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1114663	NM_004408.4(DNM1):c.3G>T (p.Met1Ile)	CIZ1, DNM1 (M1I)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 833577	NM_004408.4(DNM1):c.6C>T (p.Gly2=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GBenign
Select item 2915858	NM_004408.4(DNM1):c.11G>A (p.Arg4His)	CIZ1, DNM1 (R4H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1385023	NM_004408.4(DNM1):c.13G>A (p.Gly5Ser)	CIZ1, DNM1 (G5S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
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 2440946	NM_004408.4(DNM1):c.30_35del (p.Ile10_Leu12delinsMet)	CIZ1, DNM1	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2915480	NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)	CIZ1, DNM1 (L12M)	Indel (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	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)	CIZ1, DNM1 (L12M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1507649	NM_004408.4(DNM1):c.38T>C (p.Val13Ala)	DNM1, CIZ1 (V13A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1444460	NM_004408.4(DNM1):c.43C>G (p.Arg15Gly)	CIZ1, DNM1 (R15G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 476066	NM_004408.4(DNM1):c.44G>A (p.Arg15Gln)	CIZ1, DNM1 (R15Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31 +1 more	GConflicting classifications of pathogenicity
Select item 380950	NM_004408.4(DNM1):c.46C>A (p.Leu16Met)	CIZ1, DNM1 (L16M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1127242	NM_004408.4(DNM1):c.54C>T (p.Asp18=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 429467	NM_004408.4(DNM1):c.55G>T (p.Ala19Ser)	CIZ1, DNM1 (A19S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 751209	NM_004408.4(DNM1):c.81G>A (p.Ala27=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
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, 31 +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 1038491	NM_004408.4(DNM1):c.95C>T (p.Pro32Leu)	CIZ1, DNM1 (P32L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2500126	NM_004408.4(DNM1):c.97C>T (p.Gln33Ter)	CIZ1, DNM1 (Q33*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy 31B	GPathogenic
Select item 2659522	NM_004408.4(DNM1):c.102C>T (p.Ile34=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 574393	NM_004408.4(DNM1):c.103G>T (p.Ala35Ser)	CIZ1, DNM1 (A35S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1980946	NM_004408.4(DNM1):c.108G>T (p.Val36=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 430561	NM_004408.4(DNM1):c.112G>A (p.Gly38Ser)	CIZ1, DNM1 (G38S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2007740	NM_004408.4(DNM1):c.114C>A (p.Gly38=)	DNM1, CIZ1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1618715	NM_004408.4(DNM1):c.114C>T (p.Gly38=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 391413	NM_004408.4(DNM1):c.117C>T (p.Gly39=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31 +1 more	GLikely benign
Select item 1285467	NM_004408.4(DNM1):c.119A>C (p.Gln40Pro)	DNM1, CIZ1 (Q40P)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 520545	NM_004408.4(DNM1):c.127G>A (p.Gly43Ser)	CIZ1, DNM1 (G43S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31 +1 more	GPathogenic/Likely pathogenic
Select item 968753	NM_004408.4(DNM1):c.128G>A (p.Gly43Asp)	CIZ1, DNM1 (G43D)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely pathogenic
Select item 430565	NM_004408.4(DNM1):c.132G>T (p.Lys44Asn)	CIZ1, DNM1 (K44N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 520840	NM_004408.4(DNM1):c.134G>A (p.Ser45Asn)	DNM1, CIZ1 (S45N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31 +1 more	GPathogenic/Likely pathogenic
Select item 1079367	NM_004408.4(DNM1):c.138G>A (p.Ser46=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 224142	NM_004408.4(DNM1):c.139G>A (p.Val47Met)	CIZ1, DNM1 (V47M)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 1674345	NM_004408.4(DNM1):c.141G>T (p.Val47=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1131320	NM_004408.4(DNM1):c.150T>C (p.Asn50=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1064170	NM_004408.4(DNM1):c.152T>C (p.Phe51Ser)	CIZ1, DNM1 (F51S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2816526	NM_004408.4(DNM1):c.161+5_161+6delinsTT	CIZ1, DNM1	Indel (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2034285	NM_004408.4(DNM1):c.161+8C>T	CIZ1, DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1565866	NM_004408.4(DNM1):c.161+11C>G	CIZ1, DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2123441	NM_004408.4(DNM1):c.161+14G>A	CIZ1, DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 677619	NM_004408.4(DNM1):c.161+164G>C	CIZ1, DNM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197753	NM_004408.4(DNM1):c.161+308C>T	CIZ1, DNM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295712	NM_004408.4(DNM1):c.162-106G>A	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677416	NM_004408.4(DNM1):c.162-34T>A	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392023	NM_004408.4(DNM1):c.162-17C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1056324	NM_004408.4(DNM1):c.162-9T>G	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1617900	NM_004408.4(DNM1):c.162-8C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2801298	NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)	DNM1, LOC113839516 (R59Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2630523	NM_004408.4(DNM1):c.179G>A (p.Gly60Glu)	DNM1, LOC113839516 (G60E)	Single nucleotide variant (missense variant)	DNM1-related disorder	GLikely 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 1321293	NM_004408.4(DNM1):c.194C>T (p.Thr65Ile)	DNM1, LOC113839516 (T65I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2755885	NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)	DNM1, LOC113839516 (R66P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 429456	NM_004408.4(DNM1):c.199C>T (p.Arg67Cys)	DNM1, LOC113839516 (R67C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +1 more	GConflicting classifications of pathogenicity
Select item 2440953	NM_004408.4(DNM1):c.204C>G (p.Pro68=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2713346	NM_004408.4(DNM1):c.208G>A (p.Val70Ile)	DNM1, LOC113839516 (V70I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2440955	NM_004408.4(DNM1):c.208G>C (p.Val70Leu)	DNM1, LOC113839516 (V70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797515	NM_004408.4(DNM1):c.216G>A (p.Gln72=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2818003	NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)	DNM1, LOC113839516 (N75I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 588416	NM_004408.4(DNM1):c.224A>G (p.Asn75Ser)	LOC113839516, DNM1 (N75S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +1 more	GLikely benign
Select item 2201189	NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)	DNM1, LOC113839516 (T78K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 493492	NM_004408.4(DNM1):c.235+8C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1095894	NM_004408.4(DNM1):c.235+9C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 681559	NM_004408.4(DNM1):c.235+10C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31 +1 more	GLikely benign
Select item 2913511	NM_004408.4(DNM1):c.235+18C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2135542	NM_004408.4(DNM1):c.236-17G>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2854004	NM_004408.4(DNM1):c.236-2A>C	DNM1, LOC113839516	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 31	GLikely pathogenic
Select item 2869199	NM_004408.4(DNM1):c.243C>A (p.Ala81=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2021851	NM_004408.4(DNM1):c.246G>A (p.Glu82=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 959310	NM_004408.4(DNM1):c.261G>A (p.Lys87=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 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, 31 +1 more	GConflicting classifications of pathogenicity
Select item 2746451	NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)	DNM1, LOC113839516 (K89E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1412439	NM_004408.4(DNM1):c.267G>T (p.Lys89Asn)	DNM1, LOC113839516 (K89N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1339244	NM_004408.4(DNM1):c.284A>G (p.Glu95Gly)	DNM1, LOC113839516 (E95G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance

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