ClinVar for MedGen (Select 1640883) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1385779	NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs)	MTTP (I464fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1381641	NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val)	MTTP (E462V +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +2 more	GUncertain significance
Select item 1380622	NM_001386140.1(MTTP):c.863C>A (p.Pro288His)	MTTP (P205H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1358938	NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile)	MTTP (T434I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1075423	NM_001386140.1(MTTP):c.141del (p.Gly49fs)	MTTP (G49fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1020417	NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val)	MTTP (I463V +1 more)	Single nucleotide variant (missense variant)	Metabolic syndrome X +2 more	GUncertain significance
Select item 638950	NM_001386140.1(MTTP):c.1867+1G>A	MTTP	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 14242	NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)	MTTP (I128T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign

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