C0000744[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 347008	NM_000253.3(MTTP):c.-252G>C	LOC126807124, MTTP	Single nucleotide variant	Abetalipoproteinaemia	GBenign
Select item 347009	NM_000253.3(MTTP):c.-241G>A	LOC126807124, MTTP	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GBenign
Select item 347010	NM_000253.3(MTTP):c.-214G>A	LOC126807124, MTTP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 347011	NM_000253.4(MTTP):c.-205G>A	LOC126807124, MTTP	Single nucleotide variant (5 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347012	NM_000253.4(MTTP):c.-153C>G	LOC126807124, MTTP	Single nucleotide variant (5 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347013	NM_000253.4(MTTP):c.-149C>A	MTTP, LOC126807124	Single nucleotide variant (5 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347014	NM_001386140.1(MTTP):c.-84T>C	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	Abetalipoproteinaemia	GUncertain significance
Select item 347015	NM_001386140.1(MTTP):c.-82C>T	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	Abetalipoproteinaemia	GUncertain significance
Select item 347016	NM_001386140.1(MTTP):c.-54C>T	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	Abetalipoproteinaemia	GUncertain significance
Select item 347017	NM_001386140.1(MTTP):c.-28T>C	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	Abetalipoproteinaemia	GUncertain significance
Select item 901151	NM_001386140.1(MTTP):c.-20G>A	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	Abetalipoproteinaemia	GUncertain significance
Select item 347018	NM_001386140.1(MTTP):c.-6G>A	MTTP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 347019	NM_001386140.1(MTTP):c.39C>G (p.Ser13=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 901696	NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr)	MTTP (S18T)	Single nucleotide variant (missense variant +1 more)	Abetalipoproteinaemia	GUncertain significance
Select item 901697	NM_001386140.1(MTTP):c.110C>T (p.Thr37Met)	MTTP (T37M)	Single nucleotide variant (missense variant +1 more)	Abetalipoproteinaemia +2 more	GUncertain significance
Select item 763318	NM_001386140.1(MTTP):c.111G>A (p.Thr37=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	MTTP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 716451	NM_001386140.1(MTTP):c.124G>A (p.Val42Ile)	MTTP (V42I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 347020	NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)	MTTP (R46G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 901698	NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu)	MTTP (D53E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 197124	NM_001386140.1(MTTP):c.285G>C (p.Gln95His)	MTTP (Q95H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 347021	NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp)	MTTP (E98D +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +2 more	GBenign/Likely benign
Select item 14242	NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)	MTTP (I128T +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +3 more	GBenign/Likely benign
Select item 903647	NM_001386140.1(MTTP):c.393+11G>A	MTTP	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347022	NM_001386140.1(MTTP):c.394-7C>T	MTTP	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197648	NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)	MTTP (N140S +1 more)	Single nucleotide variant (missense variant)	MTTP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 129625	NM_001386140.1(MTTP):c.453T>C (p.Gly151=)	MTTP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 347023	NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)	MTTP (T164A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 347024	NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser)	MTTP (N166S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 900055	NM_001386140.1(MTTP):c.502-12C>T	MTTP	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347025	NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)	MTTP (V168I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 129626	NM_001386140.1(MTTP):c.522T>C (p.Cys174=)	MTTP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 347026	NM_001386140.1(MTTP):c.660T>C (p.Tyr220=)	MTTP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 347027	NM_001386140.1(MTTP):c.695C>T (p.Ala232Val)	MTTP (A232V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129627	NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)	MTTP (Q244E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 900056	NM_001386140.1(MTTP):c.756G>A (p.Ser252=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901211	NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser)	MTTP (T261S +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 901212	NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp)	MTTP (G264D +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +1 more	GUncertain significance
Select item 347028	NM_001386140.1(MTTP):c.799T>C (p.Leu267=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347029	NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg)	MTTP (K278R +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +2 more	GUncertain significance
Select item 129628	NM_001386140.1(MTTP):c.891C>G (p.His297Gln)	MTTP (H297Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 347030	NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg)	MTTP (C301R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 719676	NM_001386140.1(MTTP):c.915G>A (p.Ser305=)	MTTP	Single nucleotide variant (synonymous variant)	Abetalipoproteinaemia +1 more	GConflicting classifications of pathogenicity
Select item 901760	NM_001386140.1(MTTP):c.927G>A (p.Arg309=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347031	NM_001386140.1(MTTP):c.933C>A (p.Thr311=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129629	NM_001386140.1(MTTP):c.969T>C (p.Ala323=)	MTTP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 735130	NM_001386140.1(MTTP):c.972G>A (p.Glu324=)	MTTP	Single nucleotide variant (synonymous variant)	Abetalipoproteinaemia +1 more	GConflicting classifications of pathogenicity
Select item 347032	NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val)	MTTP (A339V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 347033	NM_001386140.1(MTTP):c.1023A>G (p.Lys341=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901761	NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser)	MTTP (L379S +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 283193	NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)	MTTP (D384A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 347034	NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser)	MTTP (A493S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 347035	NM_001386140.1(MTTP):c.1557+7T>A	MTTP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 347036	NM_001386140.1(MTTP):c.1769+3A>G	MTTP	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 347037	NM_001386140.1(MTTP):c.1769+9C>T	MTTP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 902666	NM_001386140.1(MTTP):c.1769+12T>C	MTTP	Single nucleotide variant (intron variant)	Abetalipoproteinaemia +1 more	GConflicting classifications of pathogenicity
Select item 347038	NM_001386140.1(MTTP):c.1769+14C>T	MTTP	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 347039	NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala)	MTTP (T630A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 347040	NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)	MTTP (G661S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 289462	NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)	MTTP	Single nucleotide variant (synonymous variant)	Abetalipoproteinaemia +1 more	GConflicting classifications of pathogenicity
Select item 347041	NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys)	MTTP (E681K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 347042	NM_001386140.1(MTTP):c.2043G>A (p.Glu681=)	MTTP	Single nucleotide variant (synonymous variant)	Abetalipoproteinaemia +2 more	GBenign/Likely benign
Select item 347043	NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn)	MTTP (D723N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 900116	NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr)	MTTP (I732T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 900117	NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)	MTTP (S774A +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +1 more	GConflicting classifications of pathogenicity
Select item 285288	NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)	MTTP (L811F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347044	NM_001386140.1(MTTP):c.2513+13G>A	MTTP	Single nucleotide variant (intron variant)	Abetalipoproteinaemia +1 more	GBenign/Likely benign
Select item 347045	NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg)	MTTP (K879R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 347046	NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)	MTTP (P886L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 347047	NM_001386140.1(MTTP):c.*41A>G	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347048	NM_001386140.1(MTTP):c.*55G>C	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347049	NM_001386140.1(MTTP):c.*82G>A	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347050	NM_001386140.1(MTTP):c.*98T>A	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 901281	NM_001386140.1(MTTP):c.*113G>C	MTTP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 347051	NM_001386140.1(MTTP):c.*183C>T	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia +1 more	GBenign
Select item 901282	NM_001386140.1(MTTP):c.*184G>A	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 901829	NM_001386140.1(MTTP):c.*219G>A	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 901830	NM_001386140.1(MTTP):c.*267A>C	MTTP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 347052	NM_001386140.1(MTTP):c.*279C>G	MTTP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 347053	NM_001386140.1(MTTP):c.*382T>C	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 901831	NM_001386140.1(MTTP):c.*434G>A	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347054	NM_001386140.1(MTTP):c.*454dup	MTTP	Duplication (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 901832	NM_001386140.1(MTTP):c.*436A>G	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 901833	NM_001386140.1(MTTP):c.*468A>C	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GLikely benign
Select item 901834	NM_001386140.1(MTTP):c.*474T>C	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347055	NM_001386140.1(MTTP):c.490_494del	MTTP	Deletion (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347056	NM_001386140.1(MTTP):c.*506A>G	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GBenign
Select item 902733	NM_001386140.1(MTTP):c.*515G>A	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia +1 more	GBenign/Likely benign
Select item 347057	NM_001386140.1(MTTP):c.*517A>T	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 902734	NM_001386140.1(MTTP):c.*588A>G	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GBenign
Select item 902735	NM_001386140.1(MTTP):c.*668A>G	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347058	NM_001386140.1(MTTP):c.*694A>C	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GLikely benign
Select item 902736	NM_001386140.1(MTTP):c.*796C>T	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GBenign
Select item 902737	NM_001386140.1(MTTP):c.*826T>C	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347059	NM_001386140.1(MTTP):c.*862C>A	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GBenign
Select item 347060	NM_001386140.1(MTTP):c.*989T>C	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 900180	NM_001386140.1(MTTP):c.*1003T>C	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 900181	NM_001386140.1(MTTP):c.*1018G>A	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347061	NM_001386140.1(MTTP):c.*1044G>T	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 347062	NM_001386140.1(MTTP):c.*1046C>G	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GBenign
Select item 347063	NM_001386140.1(MTTP):c.*1118C>T	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance

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Items: 100