ClinVar for Gene (Select 7274) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330161	NM_000370.3(TTPA):c.673C>A (p.His225Asn)	TTPA (A123E +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3330159	NM_000370.3(TTPA):c.226T>C (p.Trp76Arg)	TTPA (W76R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3330158	NM_000370.3(TTPA):c.145G>A (p.Asp49Asn)	TTPA (D49N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3184667	NM_000370.3(TTPA):c.614C>T (p.Ala205Val)	TTPA (A205V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3184666	NM_000370.3(TTPA):c.367G>A (p.Asp123Asn)	TTPA (D123N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3022913	NM_000370.3(TTPA):c.39G>A (p.Gln13=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018630	NM_000370.3(TTPA):c.553-11A>G	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017051	NM_000370.3(TTPA):c.45C>T (p.Asn15=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012917	NM_000370.3(TTPA):c.189G>A (p.Leu63=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012197	NM_000370.3(TTPA):c.193C>T (p.Leu65=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006866	NM_000370.3(TTPA):c.204+13G>T	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995540	NM_000370.3(TTPA):c.359-9T>A	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990968	NM_000370.3(TTPA):c.102G>T (p.Arg34=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983020	NM_000370.3(TTPA):c.588G>A (p.Leu196=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2963244	NM_000370.3(TTPA):c.279T>C (p.Ile93=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2960258	NM_000370.3(TTPA):c.501T>C (p.His167=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2955254	NM_000370.3(TTPA):c.795G>T (p.Lys265Asn)	TTPA (K112N +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2914078	NM_000370.3(TTPA):c.663+19A>T	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911985	NM_000370.3(TTPA):c.678G>A (p.Gly226=)	TTPA (E125K)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2904971	NM_000370.3(TTPA):c.565T>C (p.Leu189=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2895989	NM_000370.3(TTPA):c.84G>A (p.Leu28=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890943	NM_000370.3(TTPA):c.553-20G>A	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879921	NM_000370.3(TTPA):c.204+20G>T	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874844	NM_000370.3(TTPA):c.675T>C (p.His225=)	TTPA (W124R)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2873865	NM_000370.3(TTPA):c.372del (p.Val126fs)	TTPA (V126fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2873791	NM_000370.3(TTPA):c.123G>C (p.Pro41=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865621	NM_000370.3(TTPA):c.204+2T>G	TTPA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2865572	NM_000370.3(TTPA):c.100C>A (p.Arg34=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864100	NM_000370.3(TTPA):c.359-12T>C	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864020	NM_000370.3(TTPA):c.204+2T>C	TTPA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2863968	NM_000370.3(TTPA):c.376del (p.Val126fs)	TTPA (V165fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2861774	NM_000370.3(TTPA):c.157C>T (p.Leu53=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2860289	NM_000370.3(TTPA):c.657G>A (p.Lys219=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2858291	NM_000370.3(TTPA):c.156G>A (p.Leu52=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2857177	NM_000370.3(TTPA):c.114T>C (p.Ala38=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2854816	NM_000370.3(TTPA):c.172G>A (p.Ala58Thr)	TTPA (A58T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2854232	NM_000370.3(TTPA):c.204+18G>T	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836483	NM_000370.3(TTPA):c.420del (p.Glu141fs)	TTPA (E180fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2834868	NM_000370.3(TTPA):c.102G>C (p.Arg34=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2834817	NM_000370.3(TTPA):c.261A>G (p.Leu87=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2821544	NM_000370.3(TTPA):c.727C>T (p.Leu243=)	TTPA (S141F)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2817526	NM_000370.3(TTPA):c.640C>T (p.Leu214=)	TTPA	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2814269	NM_000370.3(TTPA):c.744A>G (p.Glu248=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2813619	NM_000370.3(TTPA):c.292del (p.Ala98fs)	TTPA (A98fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2803472	NM_000370.3(TTPA):c.135G>C (p.Leu45=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2797030	NM_000370.3(TTPA):c.603A>C (p.Val201=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2795970	NM_000370.3(TTPA):c.205-20del	TTPA	Deletion (intron variant)	not provided	GLikely benign
Select item 2795363	NM_000370.3(TTPA):c.111A>G (p.Glu37=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2791972	NM_000370.3(TTPA):c.126C>A (p.Leu42=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790060	NM_000370.3(TTPA):c.663+14A>C	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788836	NM_000370.3(TTPA):c.83_105dup (p.Arg36fs)	TTPA (R36fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2782361	NM_000370.3(TTPA):c.27G>C (p.Ser9=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2778127	NM_000370.3(TTPA):c.414C>T (p.Ile138=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2772927	NM_000370.3(TTPA):c.222T>A (p.Tyr74Ter)	TTPA (Y74*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2771744	NM_000370.3(TTPA):c.664-10G>T	TTPA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2760386	NM_000370.3(TTPA):c.552+14T>C	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759580	NM_000370.3(TTPA):c.459A>G (p.Gly153=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2755898	NM_000370.3(TTPA):c.664-9C>T	TTPA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2752744	NM_000370.3(TTPA):c.207A>G (p.Leu69=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2752699	NM_000370.3(TTPA):c.294T>G (p.Ala98=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2750891	NM_000370.3(TTPA):c.72G>T (p.Leu24=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2743249	NM_000370.3(TTPA):c.564A>G (p.Pro188=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2742350	NM_000370.3(TTPA):c.81C>A (p.Gly27=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2710146	NM_000370.3(TTPA):c.400C>A (p.Arg134=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2703680	NM_000370.3(TTPA):c.92_102del (p.Leu31fs)	TTPA (L31fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2701093	NM_000370.3(TTPA):c.138G>T (p.Pro46=)	TTPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2693407	NM_000370.3(TTPA):c.204+15C>G	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692644	NM_000370.3(TTPA):c.26C>A (p.Ser9Ter)	TTPA (S9*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2691685	NM_000370.3(TTPA):c.574C>T (p.Arg192Cys)	TTPA (R192C +2 more)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
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 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 2581653	NM_000370.3(TTPA):c.837A>G (p.Ter279Trp)	TTPA	Single nucleotide variant (stop lost +2 more)	not specified	GUncertain significance
Select item 2554314	NM_000370.3(TTPA):c.750C>A (p.Phe250Leu)	TTPA (F250L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2533786	NM_000370.3(TTPA):c.57C>A (p.Asp19Glu)	TTPA (D19E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517471	NM_000370.3(TTPA):c.233C>A (p.Ala78Glu)	TTPA (A78E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2422972	NC_000008.10:g.(?_63973811)_(63998581_?)dup	TTPA	Duplication	not provided	GUncertain significance
Select item 2422971	NC_000008.10:g.(?_63998357)_(63998581_?)del	TTPA	Deletion	not provided	GPathogenic
Select item 2416244	NM_000370.3(TTPA):c.336C>T (p.Ser112=)	TTPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2414696	NM_000370.3(TTPA):c.730G>A (p.Glu244Lys)	TTPA (E128K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2409040	NM_000370.3(TTPA):c.291G>T (p.Lys97Asn)	TTPA (K97N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292579	NM_000370.3(TTPA):c.677G>A (p.Gly226Glu)	TTPA (G226E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287892	NM_000370.3(TTPA):c.35C>T (p.Pro12Leu)	TTPA (P12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257026	NM_000370.3(TTPA):c.532A>G (p.Lys178Glu)	TTPA (K178E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250487	NM_000370.3(TTPA):c.463A>C (p.Lys155Gln)	TTPA (K155Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199030	NM_000370.3(TTPA):c.376G>A (p.Val126Ile)	TTPA (V165I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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