"Genome-Nilou Lab"[submitter] AND "MTTP"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1209604	NM_001386140.1(MTTP):c.64C>T (p.His22Tyr)	MTTP (H22Y)	Single nucleotide variant (missense variant +1 more)	Abetalipoproteinaemia +1 more	GUncertain significance
Select item 901697	NM_001386140.1(MTTP):c.110C>T (p.Thr37Met)	MTTP (T37M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1209606	NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser)	MTTP (G151S +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +1 more	GUncertain significance
Select item 129625	NM_001386140.1(MTTP):c.453T>C (p.Gly151=)	MTTP	Single nucleotide variant (synonymous variant)	Abetalipoproteinaemia +2 more	GBenign
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 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 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 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 1114250	NM_001386140.1(MTTP):c.1233C>T (p.Leu411=)	MTTP	Single nucleotide variant (synonymous variant)	Abetalipoproteinaemia +1 more	GLikely benign
Select item 1209605	NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile)	MTTP (N468I +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	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 1209582	NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala)	MTTP (D710A +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +1 more	GUncertain significance
Select item 285288	NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)	MTTP (L811F +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +1 more	GConflicting classifications of pathogenicity
Select item 1209583	NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg)	MTTP (G809R +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1209607	NM_001386140.1(MTTP):c.*38G>A	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance