"Illumina Laboratory Services, Illumina"[submitter] AND "DNM1L"[gene] - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 308390	NM_012062.5(DNM1L):c.1597-3_1597-2dup	DNM1L	Duplication (splice acceptor variant +1 more)	Lethal Encephalopathy +1 more	GLikely benign
Select item 308395	NM_012062.5(DNM1L):c.21_22delinsCT	DNM1L	Indel (3 prime UTR variant)	Lethal Encephalopathy	GUncertain significance
Select item 308394	NM_012062.5(DNM1L):c.*21G>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 308396	NM_012062.5(DNM1L):c.*22A>T	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +4 more	GBenign/Likely benign
Select item 308400	NM_012062.5(DNM1L):c.*271C>G	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +2 more	GBenign/Likely benign
Select item 308401	NM_012062.5(DNM1L):c.275_278dup	DNM1L	Duplication (3 prime UTR variant)	Lethal Encephalopathy	GUncertain significance
Select item 308402	NM_012062.5(DNM1L):c.335_338dup	DNM1L	Duplication (3 prime UTR variant)	Lethal Encephalopathy	GLikely benign
Select item 308403	NM_012062.5(DNM1L):c.*393A>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +2 more	GLikely benign
Select item 308408	NM_012062.5(DNM1L):c.*600C>T	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +2 more	GBenign/Likely benign
Select item 308409	NM_012062.5(DNM1L):c.*744A>T	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +1 more	GLikely benign
Select item 308411	NM_012062.5(DNM1L):c.*1093T>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +1 more	GBenign
Select item 308413	NM_012062.5(DNM1L):c.*1120A>G	DNM1L	Single nucleotide variant (3 prime UTR variant)	Lethal Encephalopathy	GLikely benign
Select item 308414	NM_012062.5(DNM1L):c.*1156G>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +1 more	GLikely benign
Select item 308416	NM_012062.5(DNM1L):c.*1213G>T	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +1 more	GLikely benign
Select item 308418	NM_012062.5(DNM1L):c.*1242G>A	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +2 more	GBenign/Likely benign
Select item 308420	NM_012062.5(DNM1L):c.*1315dup	DNM1L	Duplication (3 prime UTR variant)	Lethal Encephalopathy	GUncertain significance
Select item 308422	NM_012062.5(DNM1L):c.*1338C>T	DNM1L	Single nucleotide variant (3 prime UTR variant)	Lethal Encephalopathy	GLikely benign
Select item 308425	NM_012062.5(DNM1L):c.*1415T>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +2 more	GBenign/Likely benign
Select item 308426	NM_012062.5(DNM1L):c.1471_1475dup	DNM1L	Duplication (3 prime UTR variant)	Lethal Encephalopathy	GUncertain significance
Select item 308427	NM_012062.5(DNM1L):c.*1526T>C	DNM1L	Single nucleotide variant (3 prime UTR variant)	Lethal Encephalopathy	GLikely benign
Select item 308429	NM_012062.5(DNM1L):c.*1538del	DNM1L	Deletion (3 prime UTR variant)	Lethal Encephalopathy	GLikely benign
Select item 308437	NM_012062.5(DNM1L):c.2102_2103dup	DNM1L	Duplication (3 prime UTR variant)	Lethal Encephalopathy	GLikely benign
Select item 308438	NM_012062.5(DNM1L):c.*2206dup	DNM1L	Duplication (3 prime UTR variant)	Lethal Encephalopathy	GUncertain significance
Select item 308439	NM_001040436.3(YARS2):c.*643G>A	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +3 more	GBenign/Likely benign
Select item 308441	NM_001040436.3(YARS2):c.*406C>T	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 308442	NM_001040436.3(YARS2):c.*360A>G	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +3 more	GConflicting classifications of pathogenicity
Select item 308443	NM_001040436.3(YARS2):c.*230A>G	YARS2, DNM1L	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +3 more	GConflicting classifications of pathogenicity
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 308447	NM_001040436.3(YARS2):c.*142T>C	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +3 more	GConflicting classifications of pathogenicity
Select item 308448	NM_001040436.3(YARS2):c.126_127del	DNM1L, YARS2	Deletion (3 prime UTR variant)	Lethal Encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 308449	NM_001040436.3(YARS2):c.*62G>A	DNM1L, YARS2	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia +3 more	GConflicting classifications of pathogenicity
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 +4 more	GBenign/Likely benign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35