"PreventionGenetics, part of Exact Sciences"[submitter] AND "DGUOK"[ge - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047575	NM_080916.3(DGUOK):c.-10C>T	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	DGUOK-related disorder	GLikely benign
Select item 337043	NM_080916.3(DGUOK):c.-8T>C	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 3044817	NM_080916.3(DGUOK):c.-5G>A	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	DGUOK-related disorder	GLikely benign
Select item 3029487	NM_080916.3(DGUOK):c.-2G>T	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	DGUOK-related disorder	GLikely benign
Select item 193482	NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)	DGUOK, LOC129934096 (A2S)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1904667	NM_080916.3(DGUOK):c.50C>G (p.Ser17Cys)	DGUOK, LOC129934096 (S17C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 498112	NM_080916.3(DGUOK):c.60G>A (p.Lys20=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2101602	NM_080916.3(DGUOK):c.69C>G (p.Leu23=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3061717	NM_080916.3(DGUOK):c.120G>A (p.Arg40=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	DGUOK-related disorder	GLikely benign
Select item 214284	NM_080916.3(DGUOK):c.142+9C>T	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	DGUOK-related disorder +2 more	GBenign/Likely benign
Select item 3029419	NM_080916.3(DGUOK):c.143-19C>T	DGUOK	Single nucleotide variant (intron variant)	DGUOK-related disorder	GLikely benign
Select item 1970138	NM_080916.3(DGUOK):c.143-6T>C	DGUOK	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 735409	NM_080916.3(DGUOK):c.189A>C (p.Pro63=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	DGUOK-related disorder +1 more	GLikely benign
Select item 1989361	NM_080916.3(DGUOK):c.198C>T (p.His66=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	DGUOK-related disorder +1 more	GLikely benign
Select item 594276	NM_080916.3(DGUOK):c.198C>A (p.His66Gln)	DGUOK (H66Q)	Single nucleotide variant (missense variant +1 more)	DGUOK-related disorder +1 more	GUncertain significance
Select item 1319234	NM_080916.3(DGUOK):c.199G>A (p.Val67Ile)	DGUOK (V67I)	Single nucleotide variant (missense variant +1 more)	DGUOK-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 208752	NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)	DGUOK (P71A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 289982	NM_080916.3(DGUOK):c.256-7C>T	DGUOK	Single nucleotide variant (intron variant)	DGUOK-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 595486	NM_080916.3(DGUOK):c.256-6C>T	DGUOK	Single nucleotide variant (intron variant)	DGUOK-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 286174	NM_080916.3(DGUOK):c.353G>A (p.Arg118His)	DGUOK (R118H +1 more)	Single nucleotide variant (missense variant +1 more)	DGUOK-related disorder +1 more	GLikely pathogenic
Select item 337046	NM_080916.3(DGUOK):c.366G>C (p.Gln122His)	DGUOK (Q122H +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +2 more	GConflicting classifications of pathogenicity
Select item 137081	NM_080916.3(DGUOK):c.423G>A (p.Glu141=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 3055577	NM_080916.3(DGUOK):c.444-75TC[6]	DGUOK	Microsatellite (intron variant)	DGUOK-related disorder	GLikely benign
Select item 513734	NM_080916.3(DGUOK):c.444-75TC[5]	DGUOK	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 510593	NM_080916.3(DGUOK):c.444-62C>T	DGUOK	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 214285	NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)	DGUOK (N154K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 137082	NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)	DGUOK (Q170R +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 +4 more	GBenign/Likely benign
Select item 2629364	NM_080916.3(DGUOK):c.554C>T (p.Thr185Ile)	DGUOK (T185I +2 more)	Single nucleotide variant (missense variant +2 more)	DGUOK-related disorder	GUncertain significance
Select item 337048	NM_080916.3(DGUOK):c.592-9del	DGUOK	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 197867	NM_080916.3(DGUOK):c.630G>A (p.Glu210=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	DGUOK-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 337049	NM_080916.3(DGUOK):c.664C>T (p.Leu222=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +2 more	GConflicting classifications of pathogenicity
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 +1 more	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 1934183	NM_080916.3(DGUOK):c.808-6C>G	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	DGUOK-related disorder +1 more	GLikely benign
Select item 137083	NM_080916.3(DGUOK):c.*13A>T	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 +3 more	GBenign

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Items: 35