ClinVar for MedGen (Select 482290) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066175	NM_012062.5(DNM1L):c.1916G>A (p.Arg639Gln)	DNM1L (R436Q +7 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 3065954	NM_012062.5(DNM1L):c.2155-20T>A	DNM1L	Single nucleotide variant (intron variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 2692372	NM_012062.5(DNM1L):c.456G>T (p.Lys152Asn)	DNM1L (K152N +1 more)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 2585623	NM_012062.5(DNM1L):c.770G>C (p.Ser257Thr)	DNM1L (S270T +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 2584374	NM_012062.5(DNM1L):c.176C>T (p.Thr59Ile)	DNM1L (T59I)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 2572539	NM_001278464.2(DNM1L):c.254del (p.Pro85fs)	DNM1L (L17fs +1 more)	Deletion (frameshift variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 2572010	NM_012062.5(DNM1L):c.1049G>C (p.Gly350Ala)	DNM1L (G147A +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 2572009	NM_012062.5(DNM1L):c.2161C>T (p.Gln721Ter)	DNM1L (Q518* +7 more)	Single nucleotide variant (nonsense)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 2500693	NM_012062.5(DNM1L):c.115A>C (p.Ser39Arg)	DNM1L (S39R)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 2500314	NM_012062.5(DNM1L):c.1325T>A (p.Ile442Asn)	DNM1L (I239N +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 2431879	NM_012062.5(DNM1L):c.571A>G (p.Met191Val)	DNM1L (M191V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1803961	NM_012062.5(DNM1L):c.428C>G (p.Thr143Arg)	DNM1L (T143R +1 more)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 1803023	NM_012062.5(DNM1L):c.1247T>C (p.Leu416Pro)	DNM1L (L213P +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 1683649	NM_012062.5(DNM1L):c.1289G>A (p.Arg430His)	DNM1L (R227H +2 more)	Single nucleotide variant (missense variant)	Optic atrophy 5 +1 more	GUncertain significance
Select item 1503004	NM_012062.5(DNM1L):c.1596+2T>A	DNM1L	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 1342886	NM_012062.5(DNM1L):c.2035A>C (p.Lys679Gln)	DNM1L (K476Q +7 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 1320222	NM_012062.5(DNM1L):c.1227_1228del (p.Glu410fs)	DNM1L (E207fs +2 more)	Deletion (frameshift variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GPathogenic
Select item 1195874	NM_012062.5(DNM1L):c.176C>A (p.Thr59Asn)	DNM1L (T59N)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GPathogenic
Select item 1031737	NM_012062.5(DNM1L):c.505C>T (p.Leu169Phe)	DNM1L (L169F +1 more)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 985169	NM_012062.5(DNM1L):c.1228G>A (p.Glu410Lys)	DNM1L (E207K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 976414	NM_012062.5(DNM1L):c.1087G>A (p.Gly363Ser)	DNM1L (G160S +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 974819	NM_012062.5(DNM1L):c.115A>G (p.Ser39Gly)	DNM1L (S39G)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GPathogenic
Select item 931487	NM_012062.5(DNM1L):c.344C>G (p.Thr115Arg)	DNM1L (T115R +1 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 802836	NM_012062.5(DNM1L):c.1915C>T (p.Arg639Trp)	DNM1L (R602W +7 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +1 more	GUncertain significance
Select item 802835	NM_012062.5(DNM1L):c.1822A>C (p.Lys608Gln)	DNM1L (K405Q +7 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 802834	NM_012062.5(DNM1L):c.1571T>C (p.Leu524Ser)	DNM1L (L524S +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely benign
Select item 802833	NM_012062.5(DNM1L):c.1108T>C (p.Phe370Leu)	DNM1L (F167L +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 689730	NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)	DNM1L (K53fs +2 more)	Duplication (frameshift variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +1 more	GPathogenic
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 619028	NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys)	DNM1L (Y691C +7 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +2 more	GPathogenic/Likely pathogenic
Select item 599329	NM_145798.3(OSBPL7):c.1078G>A (p.Asp360Asn)	OSBPL7 (D360N)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 599328	NM_018131.5(CEP55):c.910A>T (p.Ile304Leu)	CEP55 (I304L)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 449012	NM_012062.5(DNM1L):c.25_28delinsCACT (p.Asn9_Lys10delinsHisTer)	DNM1L	Indel (nonsense +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +1 more	GConflicting classifications of pathogenicity
Select item 374321	NM_012062.5(DNM1L):c.1135G>A (p.Glu379Lys)	DNM1L (E379K +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
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 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 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 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 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 253267	NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg)	DNM1L (G350R +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 253266	NM_012062.5(DNM1L):c.106A>G (p.Ser36Gly)	DNM1L (S36G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 253264	NM_012062.5(DNM1L):c.346_347del (p.Glu116fs)	DNM1L (E129fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 253263	NM_001278464.2(DNM1L):c.261dup (p.Trp88fs)	DNM1L (W88fs +1 more)	Duplication (frameshift variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GPathogenic
Select item 253262	NM_012062.5(DNM1L):c.1084G>A (p.Gly362Ser)	DNM1L (G362S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 253261	NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp)	DNM1L (G362D +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 243096	NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe)	DNM1L (C446F +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 214313	NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	DNM1L (R403C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 214308	NM_012062.5(DNM1L):c.305C>T (p.Thr102Met)	DNM1L (T102M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 214306	NM_012062.5(DNM1L):c.1885-15del	DNM1L	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 214305	NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe)	DNM1L (I612F +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 214301	NM_012062.5(DNM1L):c.741-19G>A	DNM1L	Single nucleotide variant (intron variant)	Optic atrophy 5 +3 more	GBenign/Likely benign
Select item 6015	NM_012062.5(DNM1L):c.1184C>A (p.Ala395Asp)	DNM1L (A395D +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GPathogenic

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Items: 52