ClinVar for Gene (Select 10059) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3084768	NM_012062.5(DNM1L):c.323G>A (p.Arg108Gln)	DNM1L (R108Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084767	NM_012062.5(DNM1L):c.2094T>A (p.Asp698Glu)	DNM1L (D661E +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084766	NM_012062.5(DNM1L):c.2093A>T (p.Asp698Val)	DNM1L (D661V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084765	NM_012062.5(DNM1L):c.1946G>A (p.Arg649Gln)	DNM1L (R623Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3061183	NM_012062.5(DNM1L):c.1603A>G (p.Lys535Glu)	DNM1L (K332E +2 more)	Single nucleotide variant (missense variant +1 more)	DNM1L-related disorder	GUncertain significance
Select item 3050744	NM_012062.5(DNM1L):c.*3del	DNM1L	Deletion (3 prime UTR variant)	DNM1L-related disorder	GLikely benign
Select item 3050276	NM_012062.5(DNM1L):c.*7C>T	DNM1L	Single nucleotide variant (3 prime UTR variant)	DNM1L-related disorder	GLikely benign
Select item 3050179	NM_012062.5(DNM1L):c.5_6del	DNM1L	Deletion (3 prime UTR variant)	DNM1L-related disorder	GLikely benign
Select item 3037094	NM_012062.5(DNM1L):c.250+2T>G	DNM1L	Single nucleotide variant (splice donor variant)	DNM1L-related disorder	GUncertain significance
Select item 3023647	NM_012062.5(DNM1L):c.1696G>T (p.Glu566Ter)	DNM1L (E566* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3022272	NM_012062.5(DNM1L):c.1994+9T>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019814	NM_012062.5(DNM1L):c.1150C>T (p.Leu384Phe)	DNM1L (L181F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019660	NM_012062.5(DNM1L):c.174C>T (p.Val58=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018814	NM_012062.5(DNM1L):c.1127G>A (p.Arg376Gln)	DNM1L (R173Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018682	NM_012062.5(DNM1L):c.220G>C (p.Asp74His)	DNM1L (D74H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017891	NM_012062.5(DNM1L):c.750A>G (p.Leu250=)	DNM1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013364	NM_012062.5(DNM1L):c.1674+14C>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012429	NM_012062.5(DNM1L):c.37G>A (p.Asp13Asn)	DNM1L (D13N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011444	NM_012062.5(DNM1L):c.370-17T>C	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004198	NM_012062.5(DNM1L):c.2149C>T (p.Leu717=)	DNM1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000561	NM_012062.5(DNM1L):c.1985T>C (p.Ile662Thr)	DNM1L (I675T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997768	NM_012062.5(DNM1L):c.414C>T (p.Asn138=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982567	NM_012062.5(DNM1L):c.1995-14G>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977515	NM_012062.5(DNM1L):c.1596+11G>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974048	NM_012062.5(DNM1L):c.370-8A>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970457	NM_012062.5(DNM1L):c.741-10T>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970048	NM_012062.5(DNM1L):c.1597-26_1597-9del	DNM1L	Deletion (intron variant)	not provided	GLikely benign
Select item 2969759	NM_012062.5(DNM1L):c.593A>C (p.Lys198Thr)	DNM1L (K211T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968160	NM_012062.5(DNM1L):c.1552A>T (p.Asn518Tyr)	DNM1L (N531Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966416	NM_012062.5(DNM1L):c.1539+11T>C	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965806	NM_012062.5(DNM1L):c.1624C>T (p.Pro542Ser)	DNM1L (P339S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2916074	NM_012062.5(DNM1L):c.1754C>T (p.Thr585Ile)	DNM1L (T548I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910826	NM_012062.5(DNM1L):c.1769G>A (p.Arg590Lys)	DNM1L (R553K +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901320	NM_012062.5(DNM1L):c.1509T>C (p.Asp503=)	DNM1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899027	NM_012062.5(DNM1L):c.2154+24dup	DNM1L	Duplication (intron variant)	not provided	GBenign
Select item 2887096	NM_012062.5(DNM1L):c.1885-15C>T	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879696	NM_012062.5(DNM1L):c.1902A>G (p.Arg634=)	DNM1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879695	NM_012062.5(DNM1L):c.1900C>A (p.Arg634=)	DNM1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878656	NM_012062.5(DNM1L):c.1843G>C (p.Ala615Pro)	DNM1L (A604P +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876488	NM_012062.5(DNM1L):c.515G>T (p.Arg172Leu)	DNM1L (R172L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2876160	NM_012062.5(DNM1L):c.7G>A (p.Ala3Thr)	DNM1L (A3T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2872743	NM_012062.5(DNM1L):c.1446+8_1446+9insTTA	DNM1L	Insertion (intron variant)	not provided	GLikely benign
Select item 2872478	NM_012062.5(DNM1L):c.1884+8A>C	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870173	NM_012062.5(DNM1L):c.1357-3T>C	DNM1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2865318	NM_012062.5(DNM1L):c.1962T>C (p.Tyr654=)	DNM1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864806	NM_012062.5(DNM1L):c.1487C>G (p.Thr496Arg)	DNM1L (T509R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2864667	NM_012062.5(DNM1L):c.620-10C>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860397	NM_012062.5(DNM1L):c.1541A>C (p.Glu514Ala)	DNM1L (E514A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859946	NM_012062.5(DNM1L):c.338A>G (p.Asn113Ser)	DNM1L (N113S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2859356	NM_012062.5(DNM1L):c.1775T>C (p.Met592Thr)	DNM1L (M555T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857041	NM_012062.5(DNM1L):c.456+14A>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856888	NM_012062.5(DNM1L):c.139G>T (p.Gly47Trp)	DNM1L (G47W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2852597	NM_012062.5(DNM1L):c.871A>G (p.Arg291Gly)	DNM1L (R304G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849835	NM_012062.5(DNM1L):c.797A>G (p.Tyr266Cys)	DNM1L (Y279C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849288	NM_012062.5(DNM1L):c.1707+17A>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849167	NM_012062.5(DNM1L):c.1597-16G>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846755	NM_012062.5(DNM1L):c.250+10A>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844234	NM_012062.5(DNM1L):c.1885-8C>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843966	NM_012062.5(DNM1L):c.602G>C (p.Arg201Thr)	DNM1L (R201T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2839650	NM_012062.5(DNM1L):c.1357-7T>C	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837884	NM_012062.5(DNM1L):c.1447-14T>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837644	NM_012062.5(DNM1L):c.667G>C (p.Gly223Arg)	DNM1L (G236R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2831145	NM_012062.5(DNM1L):c.1034G>T (p.Cys345Phe)	DNM1L (C345F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827542	NM_012062.5(DNM1L):c.1597-9del	DNM1L	Deletion (intron variant)	not provided	GBenign
Select item 2827535	NM_012062.5(DNM1L):c.1773A>C (p.Gly591=)	DNM1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824835	NM_012062.5(DNM1L):c.2205T>G (p.Leu735=)	DNM1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818094	NM_012062.5(DNM1L):c.613C>G (p.Pro205Ala)	DNM1L (P218A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2817995	NM_012062.5(DNM1L):c.271G>A (p.Gly91Ser)	DNM1L (G91S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2815598	NM_012062.5(DNM1L):c.1271T>C (p.Leu424Pro)	DNM1L (L424P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814424	NM_012062.5(DNM1L):c.2154+8G>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813615	NM_012062.5(DNM1L):c.1675-16A>T	DNM1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2811626	NM_012062.5(DNM1L):c.297+1G>A	DNM1L	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2811328	NM_012062.5(DNM1L):c.251-10T>C	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810445	NM_012062.5(DNM1L):c.572T>C (p.Met191Thr)	DNM1L (M191T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2809428	NM_012062.5(DNM1L):c.344_349del (p.Thr115_Glu116del)	DNM1L	Deletion (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 2809348	NM_012062.5(DNM1L):c.1512T>A (p.Ala504=)	DNM1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808109	NM_012062.5(DNM1L):c.2097T>C (p.Leu699=)	DNM1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802846	NM_012062.5(DNM1L):c.619+19_619+23del	DNM1L	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2801829	NM_012062.5(DNM1L):c.103-19G>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801329	NM_012062.5(DNM1L):c.1104T>C (p.Tyr368=)	DNM1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801212	NM_012062.5(DNM1L):c.1561G>A (p.Ala521Thr)	DNM1L (A534T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800865	NM_012062.5(DNM1L):c.227G>A (p.Arg76Gln)	DNM1L (R76Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797773	NM_012062.5(DNM1L):c.1079+11A>T	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794431	NM_012062.5(DNM1L):c.1200+19T>C	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791314	NM_012062.5(DNM1L):c.1200+14G>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784325	NM_012062.5(DNM1L):c.1825C>T (p.Pro609Ser)	DNM1L (P609S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781011	NM_012062.5(DNM1L):c.740+7A>T	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777746	NM_012062.5(DNM1L):c.1447-13dup	DNM1L	Duplication (intron variant)	not provided	GLikely benign
Select item 2771401	NM_012062.5(DNM1L):c.1652C>T (p.Ala551Val)	DNM1L (A564V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2769054	NM_012062.5(DNM1L):c.1708-5T>C	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768274	NM_012062.5(DNM1L):c.1687A>G (p.Ser563Gly)	DNM1L (S360G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2767526	NM_012062.5(DNM1L):c.496del (p.Ile166fs)	DNM1L (I166fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2767519	NM_012062.5(DNM1L):c.1844C>A (p.Ala615Asp)	DNM1L (A589D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767448	NM_012062.5(DNM1L):c.1447-18A>C	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767435	NM_012062.5(DNM1L):c.1493A>T (p.His498Leu)	DNM1L (H295L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766532	NM_012062.5(DNM1L):c.486T>A (p.Ile162=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2764429	NM_012062.5(DNM1L):c.622C>T (p.Arg208Cys)	DNM1L (R208C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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