Related gene-specific medical variations for Gene (Select 25792) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2816526	NM_004408.4(DNM1):c.161+5_161+6delinsTT	CIZ1, DNM1	Indel (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2688786	NM_001131016.2(CIZ1):c.703C>T (p.Pro235Ser)	CIZ1 (P134S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2440946	NM_004408.4(DNM1):c.30_35del (p.Ile10_Leu12delinsMet)	CIZ1, DNM1	Deletion (inframe_indel +1 more)	not provided	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 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 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 2007740	NM_004408.4(DNM1):c.114C>A (p.Gly38=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
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 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 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 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 1674345	NM_004408.4(DNM1):c.141G>T (p.Val47=)	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=)	DNM1, CIZ1	Single nucleotide variant (synonymous variant +1 more)	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 1507649	NM_004408.4(DNM1):c.38T>C (p.Val13Ala)	CIZ1, DNM1 (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 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 1285467	NM_004408.4(DNM1):c.119A>C (p.Gln40Pro)	CIZ1, DNM1 (Q40P)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1197753	NM_004408.4(DNM1):c.161+308C>T	CIZ1, DNM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 1038491	NM_004408.4(DNM1):c.95C>T (p.Pro32Leu)	DNM1, CIZ1 (P32L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
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 968753	NM_004408.4(DNM1):c.128G>A (p.Gly43Asp)	DNM1, CIZ1 (G43D)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely pathogenic
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 832764	NC_000009.12:g.(?_128203451)_(128203651_?)dup	CIZ1, DNM1	Duplication	Developmental and epileptic encephalopathy, 31	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 677619	NM_004408.4(DNM1):c.161+164G>C	CIZ1, DNM1	Single nucleotide variant (intron variant)	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 520840	NM_004408.4(DNM1):c.134G>A (p.Ser45Asn)	CIZ1, DNM1 (S45N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31 +1 more	GPathogenic/Likely pathogenic
Select item 520545	NM_004408.4(DNM1):c.127G>A (p.Gly43Ser)	DNM1, CIZ1 (G43S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31 +1 more	GPathogenic/Likely pathogenic
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 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 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 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 430561	NM_004408.4(DNM1):c.112G>A (p.Gly38Ser)	CIZ1, DNM1 (G38S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 384406	NM_004408.4(DNM1):c.-17C>A	CIZ1, DNM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 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 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

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Links from Gene

Items: 53