"PreventionGenetics, part of Exact Sciences"[submitter] AND "MTTP"[gen - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 347010	NM_000253.3(MTTP):c.-214G>A	LOC126807124, MTTP	Single nucleotide variant (synonymous variant)	Abetalipoproteinaemia +2 more	GConflicting classifications of pathogenicity
Select item 3040642	NM_000253.4(MTTP):c.-102+3G>A	LOC126807124, MTTP	Single nucleotide variant (intron variant)	MTTP-related disorder	GLikely benign
Select item 733342	NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln)	MTTP (R32Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 763318	NM_001386140.1(MTTP):c.111G>A (p.Thr37=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	MTTP-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 743569	NM_001386140.1(MTTP):c.162C>T (p.Ser54=)	MTTP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2154056	NM_001386140.1(MTTP):c.399dup (p.Glu134fs)	MTTP (E51fs +1 more)	Duplication (frameshift variant)	MTTP-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1072850	NM_001386140.1(MTTP):c.419dup (p.Asn140fs)	MTTP (N140fs +1 more)	Duplication (frameshift variant)	MTTP-related disorder +2 more	GPathogenic
Select item 197648	NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)	MTTP (N140S +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +2 more	GConflicting classifications of pathogenicity
Select item 501124	NM_001386140.1(MTTP):c.552A>T (p.Lys184Asn)	MTTP (K184N +1 more)	Single nucleotide variant (missense variant)	MTTP-related disorder +3 more	GLikely benign
Select item 3032498	NM_001386140.1(MTTP):c.1067+1G>A	MTTP	Single nucleotide variant (splice donor variant)	MTTP-related disorder	GLikely pathogenic
Select item 777146	NM_001386140.1(MTTP):c.1149T>C (p.Ser383=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1160921	NM_001386140.1(MTTP):c.1605T>C (p.His535=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2629592	NM_001386140.1(MTTP):c.1681del (p.Leu561fs)	MTTP (L478fs +1 more)	Deletion (frameshift variant)	MTTP-related disorder	GLikely pathogenic
Select item 2144651	NM_001386140.1(MTTP):c.1770-3C>T	MTTP	Single nucleotide variant (intron variant)	MTTP-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 14235	NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter)	MTTP (R595* +1 more)	Single nucleotide variant (nonsense)	MTTP-related disorder +2 more	GPathogenic
Select item 1111632	NM_001386140.1(MTTP):c.1839T>C (p.Ser613=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 646677	NM_001386140.1(MTTP):c.1868-2A>G	MTTP	Single nucleotide variant (splice acceptor variant)	MTTP-related disorder +1 more	GLikely pathogenic
Select item 935777	NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu)	MTTP (P625L +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +2 more	GConflicting classifications of pathogenicity
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 3041485	NM_001386140.1(MTTP):c.2189G>T (p.Gly730Val)	MTTP (G647V +1 more)	Single nucleotide variant (missense variant)	MTTP-related disorder	GUncertain significance
Select item 1594334	NM_001386140.1(MTTP):c.2454G>A (p.Gln818=)	MTTP	Single nucleotide variant (synonymous variant)	MTTP-related disorder +1 more	GLikely benign

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Items: 21