Related gene-specific medical variations for Gene (Select 4547) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246705	NC_000004.11:g.(?_100532280)_(100544005_?)del	MTTP	Deletion	not provided	GPathogenic
Select item 3233396	NM_001386140.1(MTTP):c.1834G>C (p.Gly612Arg)	MTTP (G529R +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 3040642	NM_001300785.2(MTTP):c.-189+3G>A	LOC126807124, MTTP	Single nucleotide variant (intron variant)	MTTP-related disorder	GLikely benign
Select item 2690280	NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)	MTTP (Q161* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GPathogenic
Select item 2502225	NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)	MTTP (D297V +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 2431640	NC_000004.12:g.(99601399_99613000)del	MTTP	Deletion	Abetalipoproteinaemia	GPathogenic
Select item 1803921	NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)	MTTP (S805N +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1803920	NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)	MTTP (L588M +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1678403	NM_000253.4(MTTP):c.-153del	LOC126807124, MTTP	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 1323301	NM_001386140.1(MTTP):c.501+1G>A	MTTP	Single nucleotide variant (splice donor variant)	Abetalipoproteinaemia	GPathogenic
Select item 1252062	NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp)	MTTP (N791D +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1069670	NC_000004.11:g.(?_100522557)_100534157del	MTTP	Deletion	not provided	GPathogenic
Select item 989813	NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro)	MTTP (A144P +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 627621	NM_001386140.1(MTTP):c.1304T>A (p.Leu435His)	MTTP (L435H +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	Gnot provided
Select item 347013	NM_000253.4(MTTP):c.-149C>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 347011	NM_000253.4(MTTP):c.-205G>A	LOC126807124, MTTP	Single nucleotide variant (5 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 14239	NM_001386140.1(MTTP):c.1237_1344del (p.Ser413_Lys448del)	MTTP	Deletion (inframe_deletion)	Abetalipoproteinaemia	GPathogenic