"Baylor Genetics"[submitter] AND "TTPA"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9136	NM_000370.3(TTPA):c.744del (p.Glu249fs)	TTPA (E249fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 65597	NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	TTPA (R221W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2074456	NM_000370.3(TTPA):c.588del (p.Leu196_Ile197insTer)	TTPA	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 9140	NM_000370.3(TTPA):c.575G>A (p.Arg192His)	TTPA (R192H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 374211	NM_000370.3(TTPA):c.552G>A (p.Thr184=)	TTPA	Single nucleotide variant (synonymous variant)	Familial isolated deficiency of vitamin E +1 more	GPathogenic/Likely pathogenic
Select item 9139	NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)	TTPA (T172fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic
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 188951	NM_000370.3(TTPA):c.487del (p.Trp163fs)	TTPA (W163fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely 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 65592	NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)	TTPA (E141K)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E	GConflicting classifications of pathogenicity
Select item 9141	NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	TTPA (R134*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely 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 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 65591	NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	TTPA (A120T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2679385	NM_000370.3(TTPA):c.302_309del (p.His101fs)	TTPA (H101fs)	Deletion (frameshift variant +2 more)	Familial isolated deficiency of vitamin E +1 more	GPathogenic/Likely pathogenic
Select item 9137	NM_000370.3(TTPA):c.303T>G (p.His101Gln)	TTPA (H101Q)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E	GPathogenic
Select item 551293	NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)	TTPA	Indel (nonsense)	not provided +1 more	GPathogenic/Likely 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 1459425	NM_000370.3(TTPA):c.218_219dup (p.Tyr74fs)	TTPA (Y74fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
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 370407	NM_000370.3(TTPA):c.205-1G>C	TTPA	Single nucleotide variant (intron variant +1 more)	Familial isolated deficiency of vitamin E +1 more	GPathogenic
Select item 370950	NM_000370.3(TTPA):c.205-2A>G	TTPA	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely 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 840876	NM_000370.3(TTPA):c.182del (p.Phe61fs)	TTPA (F61fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65589	NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)	TTPA (R59W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1073498	NM_000370.3(TTPA):c.84_91dup (p.Leu31fs)	TTPA (L31fs)	Duplication (frameshift variant)	Familial isolated deficiency of vitamin E +1 more	GPathogenic/Likely 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 2044146	NM_000370.3(TTPA):c.74del (p.Gln25fs)	TTPA (Q25fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1076433	NM_000370.3(TTPA):c.19C>T (p.Gln7Ter)	TTPA (Q7*)	Single nucleotide variant (nonsense)	Familial isolated deficiency of vitamin E +1 more	GPathogenic/Likely pathogenic
Select item 208623	NM_000370.3(TTPA):c.19del (p.Gln7fs)	TTPA (Q7fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 370311	NM_000370.3(TTPA):c.13C>T (p.Arg5Ter)	TTPA (R5*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33