ClinVar for MedGen (Select 1682503) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2681151	NM_080916.3(DGUOK):c.384_385dup (p.Lys129fs)	DGUOK (K129fs +1 more)	Microsatellite (non-coding transcript variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GLikely pathogenic
Select item 2681150	NM_080916.3(DGUOK):c.173T>C (p.Leu58Pro)	DGUOK (L58P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GLikely pathogenic
Select item 2584542	NM_080916.3(DGUOK):c.142+4A>C	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GLikely pathogenic
Select item 2572386	NM_080916.3(DGUOK):c.173_176del (p.Leu58fs)	DGUOK (L58fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GPathogenic
Select item 1028542	NM_080916.3(DGUOK):c.13C>T (p.Arg5Cys)	DGUOK, LOC129934096 (R5C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 897203	NM_080916.3(DGUOK):c.684C>G (p.Ala228=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 896732	NM_080916.3(DGUOK):c.655C>T (p.Leu219=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 895311	NM_080916.3(DGUOK):c.265G>A (p.Ala89Thr)	DGUOK (A89T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 895310	NM_080916.3(DGUOK):c.9G>T (p.Ala3=)	DGUOK, LOC129934096	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 871763	NM_080916.3(DGUOK):c.707+3_707+6del	DGUOK	Microsatellite (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 801725	NM_080916.3(DGUOK):c.707+2T>G	DGUOK	Single nucleotide variant (splice donor variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GLikely pathogenic
Select item 559368	NM_080916.3(DGUOK):c.492C>T (p.Ile164=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523554	NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)	DGUOK, LOC129934096 (P22L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +8 more	GUncertain significance
Select item 523553	NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu)	DGUOK (G93E)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +7 more	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 +2 more	GConflicting classifications of pathogenicity
Select item 488490	NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe)	DGUOK (S52F)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GConflicting classifications of pathogenicity
Select item 420751	NM_080916.3(DGUOK):c.152A>G (p.Lys51Arg)	DGUOK (K51R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 337050	NM_080916.3(DGUOK):c.705G>A (p.Thr235=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 337047	NM_080916.3(DGUOK):c.568A>T (p.Ile190Phe)	DGUOK (I190F +2 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 337046	NM_080916.3(DGUOK):c.366G>C (p.Gln122His)	DGUOK (Q122H +1 more)	Single nucleotide variant (missense variant +1 more)	DGUOK-related condition +2 more	GConflicting classifications of pathogenicity
Select item 337045	NM_080916.3(DGUOK):c.142+1G>T	DGUOK, LOC129934096	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 337044	NM_080916.3(DGUOK):c.-1G>A	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 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 337042	NM_080916.3(DGUOK):c.-21G>T	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 289872	NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu)	DGUOK (F113L +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	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 253062	NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser)	DGUOK, LOC129934096 (N46S)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 214288	NM_080916.3(DGUOK):c.605_606del (p.Arg202fs)	DGUOK (R105fs +2 more)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 214286	NM_080916.3(DGUOK):c.591G>A (p.Gln197=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	DGUOK-Related Disorders +4 more	GPathogenic
Select item 214285	NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)	DGUOK (N154K +2 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +3 more	GConflicting classifications of pathogenicity
Select item 214283	NM_080916.3(DGUOK):c.123C>G (p.Leu41=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely 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 specified +3 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)	DGUOK-related condition +6 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 condition +2 more	GConflicting classifications of pathogenicity
Select item 193482	NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)	LOC129934096, DGUOK (A2S)	Single nucleotide variant (missense variant +2 more)	DGUOK-related condition +2 more	GConflicting classifications of pathogenicity
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
Select item 137082	NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)	DGUOK (Q170R +2 more)	Single nucleotide variant (missense variant +2 more)	Portal hypertension, noncirrhotic, 1 +4 more	GBenign/Likely benign
Select item 137081	NM_080916.3(DGUOK):c.423G>A (p.Glu141=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	DGUOK-related condition +3 more	GBenign/Likely benign
Select item 137080	NM_080916.3(DGUOK):c.159G>A (p.Thr53=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 135652	NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro)	DGUOK (L96P)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GLikely 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 8158	NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys)	DGUOK (E227K +2 more)	Single nucleotide variant (missense variant +2 more)	DGUOK-Related Disorders +2 more	GPathogenic
Select item 8157	NM_080916.3(DGUOK):c.425G>A (p.Arg142Lys)	DGUOK (R142K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 8156	NM_080916.3(DGUOK):c.609_610del (p.Tyr204fs)	DGUOK (Y204fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
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)	DGUOK-Related Disorders +2 more	GPathogenic/Likely pathogenic
Select item 8154	NM_080916.3(DGUOK):c.313C>T (p.Arg105Ter)	DGUOK (R105* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 8153	NM_080916.3(DGUOK):c.255del (p.Ala86fs)	DGUOK (A86fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic

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Items: 51