Related gene-specific medical variations for Gene (Select 7274) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245552	NC_000008.10:g.(?_63985474)_(63985667_?)dup	TTPA	Duplication	not provided	GLikely pathogenic
Select item 3245551	NC_000008.10:g.(?_63973811)_(63998581_?)del	TTPA	Deletion	not provided	GPathogenic
Select item 3242434	NM_000370.3(TTPA):c.219T>A (p.Tyr73Ter)	TTPA (Y73*)	Single nucleotide variant (nonsense +2 more)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 3240669	NM_000370.3(TTPA):c.451del (p.Arg151fs)	TTPA (R151fs +1 more)	Deletion (frameshift variant +2 more)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 2684101	NM_000370.3(TTPA):c.682A>G (p.Asn228Asp)	TTPA (N112D +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2684100	NM_000370.3(TTPA):c.101G>A (p.Arg34Gln)	TTPA (R34Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2679393	NM_000370.3(TTPA):c.214_215delinsC (p.Asn72fs)	TTPA (N72fs)	Indel (frameshift variant +2 more)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 2679392	NM_000370.3(TTPA):c.223A>T (p.Lys75Ter)	TTPA (K75*)	Single nucleotide variant (nonsense +2 more)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 2679391	NM_000370.3(TTPA):c.489del (p.Trp163fs)	TTPA (W163fs +1 more)	Deletion (frameshift variant +2 more)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 2679390	NM_000370.3(TTPA):c.358+2T>G	TTPA	Single nucleotide variant (intron variant +1 more)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 2679389	NM_000370.3(TTPA):c.358+2T>C	TTPA	Single nucleotide variant (intron variant +1 more)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 2679388	NM_000370.3(TTPA):c.381dup (p.Thr128fs)	TTPA (T128fs +1 more)	Duplication (frameshift variant +2 more)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 2679387	NM_000370.3(TTPA):c.80del (p.Gly27fs)	TTPA (G27fs)	Deletion (frameshift variant +1 more)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 2679386	NM_000370.3(TTPA):c.204+1G>T	TTPA	Single nucleotide variant (splice donor variant)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 1256475	NM_000370.3(TTPA):c.173C>A (p.Ala58Asp)	TTPA (A58D)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E +1 more	GLikely pathogenic
Select item 1256474	NM_000370.3(TTPA):c.143C>T (p.Thr48Ile)	TTPA (T48I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991597	NM_000370.3(TTPA):c.166C>T (p.Leu56=)	TTPA	Single nucleotide variant (synonymous variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 991596	NM_000370.3(TTPA):c.177G>C (p.Arg59=)	TTPA	Single nucleotide variant (synonymous variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 991275	NM_000370.3(TTPA):c.221A>G (p.Tyr74Cys)	TTPA (Y74C)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 991274	NM_000370.3(TTPA):c.401G>A (p.Arg134Gln)	TTPA (R134Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 65598	NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)	TTPA (G246R)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E	Gnot provided
Select item 65596	NM_000370.3(TTPA):c.548T>C (p.Leu183Pro)	TTPA (L183P)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E	Gnot provided
Select item 65590	NM_000370.3(TTPA):c.191A>G (p.Asp64Gly)	TTPA (D64G)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E	Gnot provided

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Items: 23