"Clinical Genetics, Academic Medical Center"[submitter] AND "MTTP"[gen - ClinVar

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Items: 24

	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 347010	NM_000253.3(MTTP):c.-214G>A	LOC126807124, MTTP	Single nucleotide variant (synonymous variant)	Abetalipoproteinaemia +2 more	GConflicting classifications of pathogenicity
Select item 972557	NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)	MTTP (L44V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 347023	NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)	MTTP (T164A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 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 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 1022080	NM_001386140.1(MTTP):c.854C>T (p.Thr285Met)	MTTP (T202M +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 14238	NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)	MTTP (R540H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 284227	NM_001386140.1(MTTP):c.1731C>T (p.Ala577=)	MTTP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 347038	NM_001386140.1(MTTP):c.1769+14C>T	MTTP	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 522324	NM_001386140.1(MTTP):c.1770-10T>C	MTTP	Single nucleotide variant (intron variant)	Abetalipoproteinaemia	GLikely benign
Select item 1299919	NM_001386140.1(MTTP):c.1877G>A (p.Arg626His)	MTTP (R543H +1 more)	Single nucleotide variant (missense variant)	not provided	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 842488	NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys)	MTTP (S715C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 793377	NM_001386140.1(MTTP):c.2448A>G (p.Thr816=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 425336	NM_001386140.1(MTTP):c.2673C>T (p.Ser891=)	MTTP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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Items: 24