C3278664[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 341990	NM_018006.4(TRMU):c.-312G>A	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 341991	NM_018006.4(TRMU):c.-281G>A	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 341992	NM_018006.4(TRMU):c.-279G>A	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 341993	NM_018006.4(TRMU):c.-190A>T	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 341994	NM_018006.4(TRMU):c.-178G>A	TRMU	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 341995	NM_018006.4(TRMU):c.-161A>C	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 341996	NM_018006.4(TRMU):c.-151G>A	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 341997	NM_018006.4(TRMU):c.-147C>A	TRMU	Single nucleotide variant	Aminoglycoside-induced deafness +1 more	GUncertain significance
Select item 341998	NM_018006.4(TRMU):c.-128A>G	TRMU	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 341999	NM_018006.4(TRMU):c.-117G>C	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GBenign/Likely benign
Select item 342000	NM_018006.4(TRMU):c.-113G>C	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342001	NM_018006.4(TRMU):c.-87T>C	TRMU	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 342002	NM_018006.5(TRMU):c.-44G>A	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 342003	NM_018006.5(TRMU):c.-35G>A	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GUncertain significance
Select item 342004	NM_018006.5(TRMU):c.-19G>C	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 342005	NM_018006.5(TRMU):c.-15T>C	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 137719	NM_018006.5(TRMU):c.9C>G (p.Ala3=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GBenign
Select item 137720	NM_018006.5(TRMU):c.10T>G (p.Leu4Val)	TRMU (L4V)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GBenign/Likely benign
Select item 1290	NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)	TRMU (A10S)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +3 more	GBenign/Likely benign
Select item 137721	NM_018006.5(TRMU):c.75G>T (p.Arg25Ser)	TRMU (R25S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 631899	NM_018006.5(TRMU):c.96_97del (p.Phe35fs)	TRMU (F35fs)	Deletion (5 prime UTR variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GConflicting classifications of pathogenicity
Select item 903483	NM_018006.5(TRMU):c.175A>G (p.Arg59Gly)	TRMU (R59G)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 215284	NM_018006.5(TRMU):c.238G>A (p.Asp80Asn)	TRMU (D80N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 903484	NM_018006.5(TRMU):c.256T>C (p.Leu86=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342006	NM_018006.5(TRMU):c.271A>G (p.Lys91Glu)	TRMU (K91E)	Single nucleotide variant (missense variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 215285	NM_018006.5(TRMU):c.272A>G (p.Lys91Arg)	TRMU (K91R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 137708	NM_018006.5(TRMU):c.387A>G (p.Ala129=)	TRMU (Q9R)	Single nucleotide variant (synonymous variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +3 more	GBenign/Likely benign
Select item 137709	NM_018006.5(TRMU):c.442G>A (p.Glu148Lys)	TRMU (E148K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 342007	NM_018006.5(TRMU):c.461G>A (p.Arg154Gln)	TRMU (R154Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 215279	NM_018006.5(TRMU):c.469G>A (p.Val157Ile)	TRMU (V157I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 137710	NM_018006.5(TRMU):c.479C>T (p.Ala160Val)	TRMU (A160V +1 more)	Single nucleotide variant (missense variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GBenign
Select item 137711	NM_018006.5(TRMU):c.552C>T (p.Ala184=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 596117	NM_018006.5(TRMU):c.705+4C>T	TRMU	Single nucleotide variant (intron variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GUncertain significance
Select item 899870	NM_018006.5(TRMU):c.705+10G>A	TRMU	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899871	NM_018006.5(TRMU):c.773-4G>A	TRMU	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 342008	NM_018006.5(TRMU):c.853G>A (p.Val285Ile)	TRMU (V285I +2 more)	Single nucleotide variant (missense variant +1 more)	TRMU-related condition +3 more	GConflicting classifications of pathogenicity
Select item 137713	NM_018006.5(TRMU):c.864C>T (p.Asp288=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GBenign
Select item 342009	NM_018006.5(TRMU):c.865G>A (p.Val289Met)	TRMU (V289M +2 more)	Single nucleotide variant (missense variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342010	NM_018006.5(TRMU):c.873+11C>T	TRMU	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 378762	NM_018006.5(TRMU):c.873+12G>A	TRMU	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 342011	NM_018006.5(TRMU):c.879C>T (p.Pro293=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137714	NM_018006.5(TRMU):c.900G>T (p.Leu300=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 901050	NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys)	TRMU (Y187C +2 more)	Single nucleotide variant (missense variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GUncertain significance
Select item 763623	NM_018006.5(TRMU):c.910C>G (p.Leu304Val)	TRMU (L164V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 342012	NM_018006.5(TRMU):c.927C>T (p.Arg309=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	TRMU-related condition +2 more	GBenign
Select item 342013	NM_018006.5(TRMU):c.941C>G (p.Ala314Gly)	TRMU (A314G +2 more)	Single nucleotide variant (missense variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342014	NM_018006.5(TRMU):c.952C>G (p.Pro318Ala)	TRMU (P318A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 500143	NM_018006.5(TRMU):c.954C>T (p.Pro318=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 215280	NM_018006.5(TRMU):c.968G>A (p.Arg323Gln)	TRMU (R323Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 901602	NM_018006.5(TRMU):c.1000C>T (p.Arg334Cys)	TRMU (R194C +2 more)	Single nucleotide variant (missense variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342015	NM_018006.5(TRMU):c.1018+9C>T	TRMU	Single nucleotide variant (intron variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GConflicting classifications of pathogenicity
Select item 215281	NM_018006.5(TRMU):c.1093A>C (p.Thr365Pro)	TRMU (T365P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 903538	NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu)	TRMU (G241E +2 more)	Single nucleotide variant (missense variant +2 more)	Aminoglycoside-induced deafness +2 more	GConflicting classifications of pathogenicity
Select item 342016	NM_018006.5(TRMU):c.1158G>A (p.Leu386=)	TRMU (G219R +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 903539	NM_018006.5(TRMU):c.1163C>T (p.Pro388Leu)	TRMU (P388L +2 more)	Single nucleotide variant (missense variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342017	NM_018006.5(TRMU):c.1164G>A (p.Pro388=)	TRMU (V221I +1 more)	Single nucleotide variant (synonymous variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +3 more	GConflicting classifications of pathogenicity
Select item 137715	NM_018006.5(TRMU):c.1176G>A (p.Thr392=)	TRMU (A225T +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 342018	NM_018006.5(TRMU):c.1188C>G (p.Gly396=)	TRMU (P229A +1 more)	Single nucleotide variant (synonymous variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GConflicting classifications of pathogenicity
Select item 137716	NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys)	TRMU (R398C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 342019	NM_018006.5(TRMU):c.1218C>T (p.Ser406=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137717	NM_018006.5(TRMU):c.*8G>C	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 899936	NM_018006.5(TRMU):c.*28G>A	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342020	NM_018006.5(TRMU):c.*43T>G	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 342021	NM_018006.5(TRMU):c.*51C>T	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely benign
Select item 899937	NM_018006.5(TRMU):c.*105A>G	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342022	NM_018006.5(TRMU):c.*113G>A	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342023	NM_018006.5(TRMU):c.*124G>C	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 342024	NM_018006.5(TRMU):c.*149G>A	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342025	NM_018006.5(TRMU):c.*151C>T	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 342026	NM_018006.5(TRMU):c.*210G>C	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 342027	NM_018006.5(TRMU):c.*266AG[1]	TRMU	Microsatellite (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely benign
Select item 342028	NM_018006.5(TRMU):c.*276G>A	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 901107	NM_018006.5(TRMU):c.*320A>G	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance

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Items: 73