ClinVar for MedGen (Select 341248) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358879	NM_000370.3(TTPA):c.205-1del	TTPA	Deletion (intron variant +1 more)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 3338092	NM_000370.3(TTPA):c.594del (p.Asn198fs)	TTPA (N198fs +2 more)	Deletion (frameshift variant +2 more)	Familial isolated deficiency of vitamin E	GLikely pathogenic
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 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 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 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 2044146	NM_000370.3(TTPA):c.74del (p.Gln25fs)	TTPA (Q25fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1725841	NM_000370.3(TTPA):c.148delinsATG (p.Ser50fs)	TTPA (S50fs)	Indel (frameshift variant)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 1725390	NM_000370.3(TTPA):c.467_469delinsT (p.Ala156fs)	TTPA (A156fs)	Indel (frameshift variant)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 1725231	NM_000370.3(TTPA):c.438_439delinsCGATCACAGATGTGTA (p.Glu146fs)	TTPA (E146fs)	Indel (frameshift variant)	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 1256477	NM_000370.3(TTPA):c.760G>T (p.Asp254Tyr)	TTPA (D254Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256476	NM_000370.3(TTPA):c.204+6C>T	TTPA	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 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 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 1027489	NM_000370.3(TTPA):c.553-1G>T	TTPA	Single nucleotide variant (intron variant +1 more)	Familial isolated deficiency of vitamin E	GPathogenic
Select item 1006523	NM_000370.3(TTPA):c.131C>T (p.Pro44Leu)	TTPA (P44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995078	NM_000370.3(TTPA):c.75G>C (p.Gln25His)	TTPA (Q25H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 991598	NM_000370.3(TTPA):c.123G>A (p.Pro41=)	TTPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 912242	NM_000370.3(TTPA):c.-18G>A	TTPA	Single nucleotide variant (5 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 912241	NM_000370.3(TTPA):c.144C>G (p.Thr48=)	TTPA	Single nucleotide variant (synonymous variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 912240	NM_000370.3(TTPA):c.202C>A (p.Arg68=)	TTPA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 912239	NM_000370.3(TTPA):c.338A>G (p.Lys113Arg)	TTPA (K113R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 912172	NM_000370.3(TTPA):c.*769G>A	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 912171	NM_000370.3(TTPA):c.*782C>T	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GBenign
Select item 912170	NM_000370.3(TTPA):c.*817G>A	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 911010	NM_000370.3(TTPA):c.352A>G (p.Arg118Gly)	TTPA (R118G)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E +1 more	GUncertain significance
Select item 911009	NM_000370.3(TTPA):c.358+15A>G	TTPA	Single nucleotide variant (intron variant)	Familial isolated deficiency of vitamin E +1 more	GConflicting classifications of pathogenicity
Select item 911008	NM_000370.3(TTPA):c.522C>T (p.Ser174=)	TTPA	Single nucleotide variant (synonymous variant)	Familial isolated deficiency of vitamin E +1 more	GConflicting classifications of pathogenicity
Select item 911007	NM_000370.3(TTPA):c.635C>A (p.Pro212Gln)	TTPA (P212Q)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E +2 more	GUncertain significance
Select item 910948	NM_000370.3(TTPA):c.*1247A>G	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 910122	NM_000370.3(TTPA):c.815G>T (p.Ser272Ile)	TTPA (S272I)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 910121	NM_000370.3(TTPA):c.*161A>G	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 910120	NM_000370.3(TTPA):c.*265T>C	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 910053	NM_000370.3(TTPA):c.*1407G>A	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 910052	NM_000370.3(TTPA):c.*1422T>G	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 910051	NM_000370.3(TTPA):c.*1424C>T	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 910050	NM_000370.3(TTPA):c.*1486C>T	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 908165	NM_000370.3(TTPA):c.*326T>A	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 908164	NM_000370.3(TTPA):c.*496T>G	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 908163	NM_000370.3(TTPA):c.*595C>G	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 908102	NM_000370.3(TTPA):c.*1716T>C	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
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 805736	NM_000370.3(TTPA):c.272G>C (p.Ser91Thr)	TTPA (S91T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802413	NM_000370.3(TTPA):c.172G>C (p.Ala58Pro)	TTPA (A58P)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 766605	NM_000370.3(TTPA):c.381T>C (p.Phe127=)	TTPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754525	NM_000370.3(TTPA):c.117C>T (p.Gly39=)	TTPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752168	NM_000370.3(TTPA):c.471C>A (p.Ile157=)	TTPA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 729056	NM_000370.3(TTPA):c.147C>T (p.Asp49=)	TTPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727159	NM_000370.3(TTPA):c.355A>G (p.Ile119Val)	TTPA (I119V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 724632	NM_000370.3(TTPA):c.36G>T (p.Pro12=)	TTPA	Single nucleotide variant (synonymous variant)	Familial isolated deficiency of vitamin E +1 more	GConflicting classifications of pathogenicity
Select item 633013	NM_000370.3(TTPA):c.339del (p.Val114fs)	TTPA (V114fs)	Deletion (frameshift variant)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 586911	NM_000370.3(TTPA):c.558A>G (p.Ser186=)	TTPA	Single nucleotide variant (synonymous variant)	Familial isolated deficiency of vitamin E +1 more	GConflicting classifications of pathogenicity
Select item 558725	NM_000370.3(TTPA):c.83_105del (p.Leu28fs)	TTPA (L28fs)	Deletion (frameshift variant)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 557866	NM_000370.3(TTPA):c.-1C>T	TTPA	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 557815	NM_000370.3(TTPA):c.552G>T (p.Thr184=)	TTPA	Single nucleotide variant (synonymous variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 557555	NM_000370.3(TTPA):c.1A>T (p.Met1Leu)	TTPA (M1L)	Single nucleotide variant (missense variant +1 more)	Familial isolated deficiency of vitamin E +1 more	GPathogenic/Likely pathogenic
Select item 557235	NM_000370.3(TTPA):c.557C>A (p.Ser186Ter)	TTPA (S186*)	Single nucleotide variant (nonsense)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 556751	NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp)	TTPA	Duplication (inframe_insertion)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 556573	NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter)	TTPA (Y269*)	Single nucleotide variant (nonsense)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 554637	NM_000370.3(TTPA):c.663+10_663+11insAC	TTPA	Insertion (intron variant)	Familial isolated deficiency of vitamin E	GLikely benign
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 550204	NM_000370.3(TTPA):c.88_118del (p.Ala30fs)	TTPA (A30fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 448840	NM_000370.3(TTPA):c.752C>T (p.Ser251Phe)	TTPA (S251F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 448838	NM_000370.3(TTPA):c.178G>A (p.Asp60Asn)	TTPA (D60N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 371663	NM_000370.3(TTPA):c.441del (p.Glu148fs)	TTPA (E148fs)	Deletion (frameshift variant)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 371454	NM_000370.3(TTPA):c.2T>A (p.Met1Lys)	TTPA (M1K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 370354	NM_000370.3(TTPA):c.313A>T (p.Arg105Ter)	TTPA (R105*)	Single nucleotide variant (nonsense)	Familial isolated deficiency of vitamin E	GLikely 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
Select item 363561	NM_000370.3(TTPA):c.452G>A (p.Arg151Gln)	TTPA (R151Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 363560	NM_000370.3(TTPA):c.616G>A (p.Val206Ile)	TTPA (V206I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 363559	NM_000370.3(TTPA):c.663+10A>G	TTPA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363558	NM_000370.3(TTPA):c.663+11T>C	TTPA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 363557	NM_000370.3(TTPA):c.664-4T>G	TTPA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 363556	NM_000370.3(TTPA):c.*239C>T	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 363555	NM_000370.3(TTPA):c.*286C>G	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 363554	NM_000370.3(TTPA):c.*292A>G	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 363553	NM_000370.3(TTPA):c.*364A>T	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 363552	NM_000370.3(TTPA):c.*452T>C	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 363551	NM_000370.3(TTPA):c.*554C>T	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 363550	NM_000370.3(TTPA):c.*578T>C	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 363549	NM_000370.3(TTPA):c.576_578del	TTPA	Deletion (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GBenign
Select item 363548	NM_000370.3(TTPA):c.*735T>C	TTPA	Single nucleotide variant (3 prime UTR variant)	Familial isolated deficiency of vitamin E	GUncertain significance

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