SUCLA2[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 467

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 312252	NM_003850.3(SUCLA2):c.*714dup	SUCLA2	Duplication (3 prime UTR variant)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 312254	NM_003850.3(SUCLA2):c.*661C>A	SUCLA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312253	NM_003850.3(SUCLA2):c.*661C>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GBenign
Select item 883329	NM_003850.3(SUCLA2):c.*581T>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GBenign
Select item 312255	NM_003850.3(SUCLA2):c.*468A>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 883330	NM_003850.3(SUCLA2):c.*435A>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 883331	NM_003850.3(SUCLA2):c.*434T>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 312256	NM_003850.3(SUCLA2):c.*431G>C	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 883332	NM_003850.3(SUCLA2):c.*391A>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 880964	NM_003850.3(SUCLA2):c.*380C>T	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 312257	NM_003850.3(SUCLA2):c.*349C>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 312258	NM_003850.3(SUCLA2):c.*331C>A	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 312259	NM_003850.3(SUCLA2):c.*328A>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GBenign
Select item 880965	NM_003850.3(SUCLA2):c.*319A>T	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 312260	NM_003850.3(SUCLA2):c.*294TTC[1]	SUCLA2	Microsatellite (3 prime UTR variant)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 880966	NM_003850.3(SUCLA2):c.*252C>T	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 312261	NM_003850.3(SUCLA2):c.*220C>T	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 312262	NM_003850.3(SUCLA2):c.*217T>C	SUCLA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312263	NM_003850.3(SUCLA2):c.*205T>C	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GBenign
Select item 312264	NM_003850.3(SUCLA2):c.*195A>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 882326	NM_003850.3(SUCLA2):c.*184G>A	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1219029	NM_003850.3(SUCLA2):c.*132A>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 312265	NM_003850.3(SUCLA2):c.*35T>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 203497	NM_003850.3(SUCLA2):c.*14T>A	SUCLA2	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2199085	NM_003850.3(SUCLA2):c.1365G>A (p.Val455=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 511394	NM_003850.3(SUCLA2):c.1353G>A (p.Lys451=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GLikely benign
Select item 259184	NM_003850.3(SUCLA2):c.1350G>A (p.Ala450=)	SUCLA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1626073	NM_003850.3(SUCLA2):c.1335A>G (p.Glu445=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2873018	NM_003850.3(SUCLA2):c.1332T>C (p.Ser444=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2758509	NM_003850.3(SUCLA2):c.1330T>C (p.Ser444Pro)	SUCLA2 (S444P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1898659	NM_003850.3(SUCLA2):c.1327C>T (p.Leu443Phe)	SUCLA2 (L443F)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 882327	NM_003850.3(SUCLA2):c.1320T>C (p.Val440=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 2722603	NM_003850.3(SUCLA2):c.1318-10T>A	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2785698	NM_003850.3(SUCLA2):c.1318-11T>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2120486	NM_003850.3(SUCLA2):c.1318-12C>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2199121	NM_003850.3(SUCLA2):c.1318-15G>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 882328	NM_003850.3(SUCLA2):c.1318-15G>A	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GConflicting classifications of pathogenicity
Select item 1644283	NM_003850.3(SUCLA2):c.1318-19C>T	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1219484	NM_003850.3(SUCLA2):c.1317+188C>T	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672219	NM_003850.3(SUCLA2):c.1317+167C>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672631	NM_003850.3(SUCLA2):c.1317+166A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2998941	NM_003850.3(SUCLA2):c.1317+9G>T	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1961020	NM_003850.3(SUCLA2):c.1313_1314delinsAC (p.Arg438Asn)	SUCLA2 (R438N)	Indel (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1998830	NM_003850.3(SUCLA2):c.1289G>C (p.Cys430Ser)	SUCLA2 (C430S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1030716	NM_003850.3(SUCLA2):c.1270G>A (p.Gly424Arg)	SUCLA2 (G424R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 817362	NM_003850.3(SUCLA2):c.1267del (p.Ser423fs)	SUCLA2 (S423fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1666631	NM_003850.3(SUCLA2):c.1263G>A (p.Ala421=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2047977	NM_003850.3(SUCLA2):c.1251G>A (p.Lys417=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2719917	NM_003850.3(SUCLA2):c.1248T>A (p.Ala416=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1528836	NM_003850.3(SUCLA2):c.1248T>C (p.Ala416=)	SUCLA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2151246	NM_003850.3(SUCLA2):c.1240G>A (p.Asp414Asn)	SUCLA2 (D414N)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 736472	NM_003850.3(SUCLA2):c.1239C>T (p.Val413=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2008146	NM_003850.3(SUCLA2):c.1229-9C>A	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2125089	NM_003850.3(SUCLA2):c.1229-11A>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2198084	NM_003850.3(SUCLA2):c.1229-15A>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1932827	NM_003850.3(SUCLA2):c.1229-16C>T	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 675586	NM_003850.3(SUCLA2):c.1229-124T>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670149	NM_003850.3(SUCLA2):c.1228+211G>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676449	NM_003850.3(SUCLA2):c.1228+51A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2989525	NM_003850.3(SUCLA2):c.1228+15T>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2053036	NM_003850.3(SUCLA2):c.1228+8T>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1694084	NM_003850.3(SUCLA2):c.1228+4A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1304196	NM_003850.3(SUCLA2):c.1227A>G (p.Gln409=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GUncertain significance
Select item 1679201	NM_003850.3(SUCLA2):c.1225C>T (p.Gln409Ter)	SUCLA2 (Q409*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely pathogenic
Select item 1432390	NM_003850.3(SUCLA2):c.1220_1225del (p.Arg407_Leu408del)	SUCLA2	Deletion (inframe_deletion)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 203962	NM_003850.3(SUCLA2):c.1220G>T (p.Arg407Leu)	SUCLA2 (R407L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1339498	NM_003850.3(SUCLA2):c.1219C>T (p.Arg407Trp)	SUCLA2 (R407W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 2780163	NM_003850.3(SUCLA2):c.1209T>A (p.Pro403=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign

<< First< Prev

Page of 5