"Genome-Nilou Lab"[submitter] AND "DNM1L"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260165	NM_012062.5(DNM1L):c.120A>C (p.Ser40=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +3 more	GBenign
Select item 260167	NM_012062.5(DNM1L):c.252G>A (p.Gly84=)	DNM1L (G29E)	Single nucleotide variant (synonymous variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +3 more	GBenign
Select item 260168	NM_012062.5(DNM1L):c.918A>G (p.Thr306=)	DNM1L	Single nucleotide variant (synonymous variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +3 more	GBenign
Select item 671645	NM_012062.5(DNM1L):c.1674+36T>A	DNM1L	Single nucleotide variant (intron variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +2 more	GBenign
Select item 308394	NM_012062.5(DNM1L):c.*21G>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Optic atrophy 5 +4 more	GBenign/Likely benign
Select item 308396	NM_012062.5(DNM1L):c.*22A>T	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Optic atrophy 5 +4 more	GBenign/Likely benign
Select item 308441	NM_001040436.3(YARS2):c.*406C>T	YARS2, DNM1L	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +4 more	GBenign/Likely benign
Select item 308444	NM_001040436.3(YARS2):c.*209G>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +4 more	GBenign/Likely benign
Select item 308445	NM_001040436.3(YARS2):c.*191T>C	YARS2, DNM1L	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +4 more	GBenign/Likely benign
Select item 308446	NM_001040436.3(YARS2):c.*162A>G	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 308451	NM_001040436.3(YARS2):c.1356A>G (p.Gln452=)	DNM1L, YARS2	Single nucleotide variant (synonymous variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +4 more	GBenign/Likely benign