100874048[Gene ID] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 2865010	NM_080916.3(DGUOK):c.708-19A>C	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1918027	NM_080916.3(DGUOK):c.708-18C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2998829	NM_080916.3(DGUOK):c.708-17G>T	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1919707	NM_080916.3(DGUOK):c.708-17G>A	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2970340	NM_080916.3(DGUOK):c.708-12C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3023329	NM_080916.3(DGUOK):c.708-11G>A	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2970092	NM_080916.3(DGUOK):c.708-10C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2741055	NM_080916.3(DGUOK):c.708-4A>G	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 214279	NM_080916.3(DGUOK):c.708-3T>C	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2993744	NM_080916.3(DGUOK):c.708-2A>G	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 3006596	NM_080916.3(DGUOK):c.711C>T (p.Leu237=)	DGUOK-AS1, DGUOK	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2864470	NM_080916.3(DGUOK):c.723T>G (p.Ala241=)	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2755115	NM_080916.3(DGUOK):c.735T>C (p.Ile245=)	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3050741	NM_080916.3(DGUOK):c.736C>T (p.Pro246Ser)	DGUOK, DGUOK-AS1 (P143S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	DGUOK-related disorder	GUncertain significance
Select item 2203106	NM_080916.3(DGUOK):c.737C>G (p.Pro246Arg)	DGUOK, DGUOK-AS1 (P143R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 488491	NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser)	DGUOK, DGUOK-AS1 (L250S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 447247	NM_080916.3(DGUOK):c.757_759del (p.Asn253del)	DGUOK, DGUOK-AS1 (N253del +4 more)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214289	NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser)	DGUOK, DGUOK-AS1 (N253S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 8155	NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)	DGUOK, DGUOK-AS1 (F162* +4 more)	Duplication (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 8159	NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr)	DGUOK, DGUOK-AS1 (D255Y +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GPathogenic
Select item 1012944	NM_080916.3(DGUOK):c.771T>C (p.Ser257=)	DGUOK, DGUOK-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1492090	NM_080916.3(DGUOK):c.772G>A (p.Glu258Lys)	DGUOK, DGUOK-AS1 (E161K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2843953	NM_080916.3(DGUOK):c.787_789del (p.Gln263del)	DGUOK, DGUOK-AS1 (Q169del +4 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1526089	NM_080916.3(DGUOK):c.789AGA[1] (p.Glu264del)	DGUOK, DGUOK-AS1 (E161del +4 more)	Microsatellite (inframe_deletion +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	GUncertain significance
Select item 1430616	NM_080916.3(DGUOK):c.792A>C (p.Glu264Asp)	DGUOK, DGUOK-AS1 (E264D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2040263	NM_080916.3(DGUOK):c.796C>T (p.Leu266Phe)	DGUOK, DGUOK-AS1 (L266F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253063	NM_080916.3(DGUOK):c.797T>G (p.Leu266Arg)	DGUOK, DGUOK-AS1 (L266R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2238979	NM_080916.3(DGUOK):c.800T>C (p.Met267Thr)	DGUOK, DGUOK-AS1 (M164T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2755482	NM_080916.3(DGUOK):c.807+11C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697585	NM_080916.3(DGUOK):c.807+14del	DGUOK, DGUOK-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2875517	NM_080916.3(DGUOK):c.807+19C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949915	NM_080916.3(DGUOK):c.807+20C>G	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783353	NM_080916.3(DGUOK):c.808-20T>C	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006937	NM_080916.3(DGUOK):c.808-19G>C	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822889	NM_080916.3(DGUOK):c.808-15T>G	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991704	NM_080916.3(DGUOK):c.808-10C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 594070	NM_080916.3(DGUOK):c.808-10C>G	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1934183	NM_080916.3(DGUOK):c.808-6C>G	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957959	NM_080916.3(DGUOK):c.810A>G (p.Val270=)	DGUOK, DGUOK-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214280	NM_080916.3(DGUOK):c.815C>A (p.Thr272Asn)	DGUOK-AS1, DGUOK (T272N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2004480	NM_080916.3(DGUOK):c.827A>C (p.Asn276Thr)	DGUOK, DGUOK-AS1 (N276T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2581440	NM_080916.3(DGUOK):c.834A>T (p.Ter278Tyr)	DGUOK, DGUOK-AS1	Single nucleotide variant (stop lost +1 more)	not specified	GUncertain significance
Select item 391680	NM_080916.3(DGUOK):c.*1C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 897204	NM_080916.3(DGUOK):c.*7C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 137083	NM_080916.3(DGUOK):c.*13A>T	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign
Select item 897205	NM_080916.3(DGUOK):c.*119C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GBenign
Select item 337052	NM_080916.3(DGUOK):c.*120G>A	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 337053	NM_080916.3(DGUOK):c.206_210dup	DGUOK, DGUOK-AS1	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 50