2973[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 464402	NC_000012.11:g.(?_32729272)_(33049685_?)dup	DNM1L, FGD4 +7 more	Duplication	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 152632	GRCh38/hg38 12p11.21(chr12:32646222-32689862)x3	DNM1L, LOC126861496 +1 more	Copy number gain	See cases	GLikely benign
Select item 146276	GRCh38/hg38 12p11.21-11.1(chr12:32672401-33313056)x3	DNM1L, LOC126861496 +10 more	Copy number gain	See cases	GUncertain significance
Select item 1226362	NC_000012.12:g.32678892dup	DNM1L	Duplication	not provided	GBenign
Select item 1216448	NC_000012.12:g.32678891_32678892dup	DNM1L	Duplication	not provided	GLikely benign
Select item 1212106	NC_000012.12:g.32678892del	DNM1L	Deletion	not provided	GLikely benign
Select item 1233957	NC_000012.12:g.32678883_32678884insT	DNM1L	Insertion	not provided	GBenign
Select item 1244387	NC_000012.12:g.32678886_32678887insT	DNM1L	Insertion	not provided	GBenign
Select item 1289492	NC_000012.12:g.32678889_32678890insT	DNM1L	Insertion	not provided	GBenign
Select item 1180084	NC_000012.12:g.32678889A>T	DNM1L	Single nucleotide variant	not provided	GBenign
Select item 1186801	NC_000012.12:g.32678890A>T	DNM1L	Single nucleotide variant	not provided	GLikely benign
Select item 1180944	NC_000012.12:g.32678890_32678891insT	DNM1L	Insertion	not provided	GLikely benign
Select item 1266530	NC_000012.12:g.32678893T>A	DNM1L	Single nucleotide variant	not provided	GBenign
Select item 1247532	NC_000012.12:g.32679092C>G	DNM1L	Single nucleotide variant	not provided	GBenign
Select item 380124	NM_012062.5(DNM1L):c.-48A>G	DNM1L	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137129	NM_012062.5(DNM1L):c.-32G>T	DNM1L	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 308384	NM_012062.5(DNM1L):c.-25A>G	DNM1L	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 1243549	NM_012062.5(DNM1L):c.-18C>T	DNM1L	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 214307	NM_012062.5(DNM1L):c.-14G>A	DNM1L	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 446169	NM_012062.5(DNM1L):c.5A>C (p.Glu2Ala)	DNM1L (E2A)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 5	GPathogenic
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 1577895	NM_012062.5(DNM1L):c.9G>C (p.Ala3=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2742727	NM_012062.5(DNM1L):c.10C>A (p.Leu4Ile)	DNM1L (L4I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2702643	NM_012062.5(DNM1L):c.10C>G (p.Leu4Val)	DNM1L (L4V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2729597	NM_012062.5(DNM1L):c.22A>C (p.Ile8Leu)	DNM1L (I8L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1402420	NM_012062.5(DNM1L):c.25A>C (p.Asn9His)	DNM1L (N9H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 631530	NM_012062.5(DNM1L):c.28A>T (p.Lys10Ter)	DNM1L (K10*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1381221	NM_012062.5(DNM1L):c.29A>G (p.Lys10Arg)	DNM1L (K10R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1634033	NM_012062.5(DNM1L):c.51G>T (p.Thr17=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2746592	NM_012062.5(DNM1L):c.55G>A (p.Gly19Ser)	DNM1L (G19S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1653376	NM_012062.5(DNM1L):c.57C>T (p.Gly19=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1895704	NM_012062.5(DNM1L):c.66C>T (p.Ile22=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2089017	NM_012062.5(DNM1L):c.73C>T (p.Leu25=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1997049	NM_012062.5(DNM1L):c.76C>A (p.Pro26Thr)	DNM1L (P26T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093266	NM_012062.5(DNM1L):c.81A>C (p.Gln27His)	DNM1L (Q27H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337043	NM_012062.5(DNM1L):c.88G>T (p.Val30Leu)	DNM1L, LOC130007663 (V30L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1524121	NM_012062.5(DNM1L):c.90A>C (p.Val30=)	DNM1L, LOC130007663	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 388124	NM_012062.5(DNM1L):c.95G>C (p.Gly32Ala)	LOC130007663, DNM1L (G32A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1246691	NM_012062.5(DNM1L):c.102+87_102+104del	DNM1L, LOC130007663	Microsatellite (intron variant)	not provided	GBenign
Select item 680565	NM_012062.5(DNM1L):c.103-267C>T	DNM1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208718	NM_012062.5(DNM1L):c.103-225C>T	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680941	NM_012062.5(DNM1L):c.103-215C>T	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678476	NM_012062.5(DNM1L):c.103-198A>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218258	NM_012062.5(DNM1L):c.103-166C>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676283	NM_012062.5(DNM1L):c.103-149A>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221037	NM_012062.5(DNM1L):c.103-144C>T	DNM1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223533	NM_012062.5(DNM1L):c.103-124dup	DNM1L	Duplication (intron variant)	not provided	GBenign
Select item 1298120	NM_012062.5(DNM1L):c.103-124del	DNM1L	Deletion (intron variant)	not provided	GBenign
Select item 1222706	NM_012062.5(DNM1L):c.103-123T>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2801829	NM_012062.5(DNM1L):c.103-19G>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1623412	NM_012062.5(DNM1L):c.105C>T (p.Ser35=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 806858	NM_012062.5(DNM1L):c.108C>T (p.Ser36=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2103596	NM_012062.5(DNM1L):c.114_115delinsAT (p.Ser39Cys)	DNM1L (S39C)	Indel (missense variant +1 more)	not provided	GUncertain significance
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 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 2136102	NM_012062.5(DNM1L):c.116G>A (p.Ser39Asn)	DNM1L (S39N)	Single nucleotide variant (missense variant +1 more)	DNM1L-related disorder +1 more	GLikely pathogenic
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 2000003	NM_012062.5(DNM1L):c.122T>C (p.Val41Ala)	DNM1L (V41A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1666057	NM_012062.5(DNM1L):c.133C>T (p.Leu45=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 386428	NM_012062.5(DNM1L):c.138G>A (p.Val46=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not specified	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 1962116	NM_012062.5(DNM1L):c.148C>G (p.Leu50Val)	DNM1L (L50V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2694260	NM_012062.5(DNM1L):c.151C>T (p.Leu51Phe)	DNM1L (L51F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1947703	NM_012062.5(DNM1L):c.168A>C (p.Gly56=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 745098	NM_012062.5(DNM1L):c.171T>C (p.Ile57=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2197615	NM_012062.5(DNM1L):c.190A>C (p.Ile64Leu)	DNM1L (I64L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1312033	NM_012062.5(DNM1L):c.198A>G (p.Gln66=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2061099	NM_012062.5(DNM1L):c.201G>C (p.Leu67=)	DNM1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2132326	NM_012062.5(DNM1L):c.207T>C (p.His69=)	DNM1L (M1T)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 2728406	NM_012062.5(DNM1L):c.245A>G (p.Glu82Gly)	DNM1L (K14E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1398101	NM_012062.5(DNM1L):c.250+3A>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1346533	NM_012062.5(DNM1L):c.250+5A>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 514211	NM_012062.5(DNM1L):c.250+7T>A	DNM1L	Single nucleotide variant (intron variant)	not specified +1 more	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 2083482	NM_012062.5(DNM1L):c.250+11G>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629245	NM_012062.5(DNM1L):c.250+16G>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671551	NM_012062.5(DNM1L):c.250+106G>A	DNM1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298232	NM_012062.5(DNM1L):c.250+155dup	DNM1L	Duplication (intron variant)	not provided	GBenign
Select item 680942	NM_012062.5(DNM1L):c.250+191G>T	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680566	NM_012062.5(DNM1L):c.250+262T>C	DNM1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271468	NM_012062.5(DNM1L):c.250+322T>C	DNM1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201559	NM_012062.5(DNM1L):c.251-1796A>G	DNM1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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