ODF2[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 3245266	NC_000009.11:g.(?_130911805)_(131302617_?)dup	BBLN, CERCAM +43 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 2254085	NM_001351578.2(ODF2):c.131G>A (p.Arg44Lys)	ODF2 (R44K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2241560	NM_001351578.2(ODF2):c.197G>A (p.Ser66Asn)	ODF2 (S22N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2374519	NM_001351578.2(ODF2):c.203C>T (p.Thr68Met)	ODF2 (T24M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2342461	NM_001351578.2(ODF2):c.235G>A (p.Ala79Thr)	ODF2 (A79T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3204046	NM_001351578.2(ODF2):c.334A>T (p.Ile112Leu)	ODF2 (I112L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204047	NM_001351578.2(ODF2):c.416G>A (p.Arg139Gln)	ODF2 (R100Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510878	NM_001351578.2(ODF2):c.419G>A (p.Arg140Gln)	ODF2 (R52Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348794	NM_001351578.2(ODF2):c.427C>T (p.Arg143Trp)	ODF2 (R104W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342787	NM_001351578.2(ODF2):c.524C>T (p.Thr175Met)	ODF2, ODF2-AS1 (T117M +8 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2405285	NM_001351578.2(ODF2):c.627G>T (p.Lys209Asn)	ODF2, ODF2-AS1 (K102N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282087	NM_001351578.2(ODF2):c.647C>T (p.Ala216Val)	ODF2, ODF2-AS1 (A109V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204048	NM_001351578.2(ODF2):c.691C>G (p.Arg231Gly)	ODF2, ODF2-AS1 (R124G +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292816	NM_001351578.2(ODF2):c.779C>T (p.Thr260Met)	ODF2, ODF2-AS1 (T153M +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309613	NM_001351578.2(ODF2):c.799G>A (p.Glu267Lys)	ODF2, ODF2-AS1 (E103K +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357306	NM_001351578.2(ODF2):c.803G>T (p.Arg268Leu)	ODF2, ODF2-AS1 (R104L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250501	NM_001351578.2(ODF2):c.830+7T>C	ODF2, ODF2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2620470	NM_001351578.2(ODF2):c.865T>C (p.Cys289Arg)	ODF2, ODF2-AS1 (C182R +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2290902	NM_001351578.2(ODF2):c.890C>T (p.Ala297Val)	ODF2, ODF2-AS1 (A133V +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2369068	NM_001351578.2(ODF2):c.959C>T (p.Thr320Ile)	ODF2 (T218I +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455238	NM_001351578.2(ODF2):c.988A>C (p.Asn330His)	ODF2 (N185H +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204049	NM_001351578.2(ODF2):c.1052G>A (p.Arg351His)	ODF2 (R249H +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259889	NM_001351578.2(ODF2):c.1054A>T (p.Thr352Ser)	ODF2 (T188S +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610414	NM_001351578.2(ODF2):c.1061G>A (p.Arg354Gln)	ODF2 (R354Q +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302176	NM_001351578.2(ODF2):c.1064A>G (p.Asp355Gly)	ODF2 (D210G +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273939	NM_001351578.2(ODF2):c.1160A>G (p.Lys387Arg)	ODF2 (K343R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302178	NM_001351578.2(ODF2):c.1165C>T (p.Arg389Cys)	ODF2 (R306C +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659535	NM_001351578.2(ODF2):c.1200G>A (p.Glu400=)	ODF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589099	NM_001351578.2(ODF2):c.1368C>A (p.Ser456Arg)	ODF2 (S311R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302175	NM_001351578.2(ODF2):c.1369G>A (p.Gly457Arg)	ODF2 (G350R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204042	NM_001351578.2(ODF2):c.1376A>G (p.Gln459Arg)	ODF2 (Q314R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204043	NM_001351578.2(ODF2):c.1537A>G (p.Lys513Glu)	ODF2 (K425E +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560089	NM_001351578.2(ODF2):c.1657A>G (p.Thr553Ala)	ODF2 (T408A +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204044	NM_001351578.2(ODF2):c.1901T>C (p.Met634Thr)	ODF2 (M489T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302177	NM_001351578.2(ODF2):c.2053A>T (p.Ile685Phe)	ODF2 (I583F +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302174	NM_001351578.2(ODF2):c.2122A>G (p.Ile708Val)	ODF2 (I544V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659536	NM_001351578.2(ODF2):c.2193G>A (p.Ala731=)	LOC113839524, ODF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768326	NM_001351578.2(ODF2):c.2378C>G (p.Thr793Ser)	ODF2 (T754S +11 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2244820	NM_001351578.2(ODF2):c.2419A>G (p.Arg807Gly)	ODF2 (R662G +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743428	NM_001351578.2(ODF2):c.2662G>A (p.Ala888Thr)	ODF2 (A844T +11 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31A +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341013	GRCh37/hg19 9q34.11(chr9:130948822-131227396)x3	CERCAM, CIZ1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 984763	GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1	COQ4, DNM1 +33 more	Copy number loss	Infantile epilepsy syndrome	GPathogenic
Select item 831938	NC_000009.12:g.(?_127815672)_(128541180_?)del	AK1, BBLN +22 more	Deletion	not provided	GPathogenic
Select item 815298	GRCh37/hg19 9q34.11(chr9:131094304-131863858)x3	GLE1, SH3GLB2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 815297	GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1	ENDOG, SET +31 more	Copy number loss	not provided	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 441058	GRCh37/hg19 9q34.11(chr9:131184326-131503894)x1	CERCAM, DYNC2I2 +7 more	Copy number loss	not provided	Gnot provided
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 81