"Revvity Omics, Revvity"[submitter] AND "DNM1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2440953	NM_004408.4(DNM1):c.204C>G (p.Pro68=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not provided	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 2440945	NM_004408.4(DNM1):c.309C>G (p.Ala103=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2440947	NM_004408.4(DNM1):c.352G>C (p.Val118Leu)	DNM1, LOC113839516 (V118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 495249	NM_004408.4(DNM1):c.442C>A (p.Gln148Lys)	DNM1, LOC113839516 (Q148K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 2440954	NM_004408.4(DNM1):c.724A>G (p.Ile242Val)	DNM1 (I242V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2440951	NM_004408.4(DNM1):c.849+3A>G	DNM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2440948	NM_004408.4(DNM1):c.926A>G (p.Lys309Arg)	DNM1 (K309R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 476059	NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln)	DNM1 (R453Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2140334	NM_004408.4(DNM1):c.1557G>C (p.Leu519=)	DNM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 649733	NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys)	DNM1 (E604K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +1 more	GUncertain significance
Select item 2440952	NM_004408.4(DNM1):c.2008A>C (p.Met670Leu)	DNM1 (M670L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440949	NM_004408.4(DNM1):c.2515G>A (p.Ala839Thr)	DNM1 (A839T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440950	NM_004408.4(DNM1):c.2583del (p.Phe862fs)	DNM1 (F862fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance