TPI1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 994232	NC_000012.12:g.6867486C>T	TPI1 (H11Y)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 811143	NC_000012.12:g.6867505T>G	TPI1 (I17R)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 369026	NC_000012.12:g.6867521G>A	TPI1	Single nucleotide variant (synonymous variant)	Triosephosphate isomerase deficiency +1 more	GBenign/Likely benign
Select item 369027	NC_000012.12:g.6867524A>G	TPI1	Single nucleotide variant (synonymous variant)	Triosephosphate isomerase deficiency +1 more	GBenign
Select item 883746	NM_000365.6(TPI1):c.-31C>T	TPI1	Single nucleotide variant (5 prime UTR variant +1 more)	Triosephosphate isomerase deficiency	GLikely benign
Select item 1330976	NM_000365.6(TPI1):c.-29C>G	TPI1 (T28S)	Single nucleotide variant (5 prime UTR variant +1 more)	Triosephosphate isomerase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 310356	NM_000365.6(TPI1):c.-29C>T	TPI1 (T28I)	Single nucleotide variant (5 prime UTR variant +1 more)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 310357	NM_000365.6(TPI1):c.-11G>A	TPI1 (G34D)	Single nucleotide variant (5 prime UTR variant +1 more)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 881405	NM_000365.6(TPI1):c.1A>G (p.Met1Val)	TPI1 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Triosephosphate isomerase deficiency +1 more	GUncertain significance
Select item 740764	NM_000365.6(TPI1):c.6G>T (p.Ala2=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963962	NM_000365.6(TPI1):c.8C>T (p.Pro3Leu)	TPI1 (P40L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759974	NM_000365.6(TPI1):c.9C>T (p.Pro3=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742258	NM_000365.6(TPI1):c.12C>T (p.Ser4=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 136173	NM_000365.6(TPI1):c.32dup (p.Asn12fs)	TPI1 (N12fs +1 more)	Duplication (frameshift variant)	Triosephosphate isomerase deficiency	GPathogenic
Select item 3065734	NM_000365.6(TPI1):c.32del (p.Gly11fs)	TPI1 (G11fs +1 more)	Deletion (frameshift variant)	Triosephosphate isomerase deficiency	GLikely pathogenic
Select item 2437193	NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)	TPI1 (W13R +1 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 1534620	NM_000365.6(TPI1):c.42G>A (p.Lys14=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809736	NM_000365.6(TPI1):c.49G>A (p.Gly17Arg)	TPI1 (G17R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127694	NM_000365.6(TPI1):c.63T>C (p.Ser21=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131414	NM_000365.6(TPI1):c.73C>T (p.Leu25Phe)	TPI1 (L25F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3328283	NM_000365.6(TPI1):c.79G>C (p.Gly27Arg)	TPI1 (G27R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642641	NM_000365.6(TPI1):c.93G>C (p.Ala31=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187406	NM_000365.6(TPI1):c.103C>G (p.Pro35Ala)	TPI1 (P72A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932690	NM_000365.6(TPI1):c.115+13C>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1485685	NM_000365.6(TPI1):c.115+17G>T	LOC130007280, TPI1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1564028	NM_000365.6(TPI1):c.115+22del	LOC130007280, TPI1	Deletion (intron variant)	not provided	GBenign
Select item 1279063	NM_000365.6(TPI1):c.115+224T>C	LOC130007280, TPI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 881406	NM_000365.6(TPI1):c.116-13A>G	TPI1	Single nucleotide variant (intron variant)	Triosephosphate isomerase deficiency +1 more	GBenign/Likely benign
Select item 1330823	NM_000365.6(TPI1):c.116-12T>C	TPI1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 12471	NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr)	TPI1 (C42Y +1 more)	Single nucleotide variant (missense variant +1 more)	Triosephosphate isomerase deficiency	GPathogenic
Select item 3181540	NM_000365.6(TPI1):c.130C>T (p.Pro44Ser)	TPI1 (P44S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1907788	NM_000365.6(TPI1):c.154G>A (p.Ala52Thr)	TPI1 (A52T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939997	NM_000365.6(TPI1):c.157C>T (p.Arg53Trp)	TPI1 (R53W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690256	NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)	TPI1 (R53Q +1 more)	Single nucleotide variant (missense variant +1 more)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437194	NM_000365.6(TPI1):c.182C>T (p.Ala61Val)	TPI1 (A61V +1 more)	Single nucleotide variant (missense variant +1 more)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 881407	NM_000365.6(TPI1):c.192G>A (p.Ala64=)	TPI1	Single nucleotide variant (synonymous variant +1 more)	Triosephosphate isomerase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1931617	NM_000365.6(TPI1):c.204C>T (p.Tyr68=)	TPI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2690255	NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)	TPI1 (T113S +1 more)	Single nucleotide variant (missense variant +1 more)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 310358	NM_000365.6(TPI1):c.239+8C>A	TPI1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1994826	NM_000365.6(TPI1):c.239+9G>C	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009408	NM_000365.6(TPI1):c.239+20G>A	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1385541	NM_000365.6(TPI1):c.240-20G>A	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3052798	NM_000365.6(TPI1):c.248T>C (p.Met83Thr)	TPI1 (M120T +2 more)	Single nucleotide variant (missense variant +1 more)	TPI1-related disorder	GUncertain significance
Select item 310359	NM_000365.6(TPI1):c.261C>T (p.Cys87=)	TPI1	Single nucleotide variant (synonymous variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 3337682	NM_000365.6(TPI1):c.265G>A (p.Ala89Thr)	TPI1 (A126T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268658	NM_000365.6(TPI1):c.269C>T (p.Thr90Met)	TPI1 (T8M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2173077	NM_000365.6(TPI1):c.288C>T (p.His96=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2269675	NM_000365.6(TPI1):c.292G>A (p.Glu98Lys)	TPI1 (E98K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2799109	NM_000365.6(TPI1):c.309T>C (p.Phe103=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 12468	NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)	TPI1 (E142D +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 310360	NM_000365.6(TPI1):c.321T>C (p.Asp107=)	TPI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3009611	NM_000365.6(TPI1):c.324+1G>C	TPI1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1902015	NM_000365.6(TPI1):c.324+13G>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635278	NM_000365.6(TPI1):c.325-12_325-11del	TPI1	Deletion (intron variant)	not provided	GLikely benign
Select item 2793071	NM_000365.6(TPI1):c.325-12G>A	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761011	NM_000365.6(TPI1):c.327G>T (p.Leu109=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023946	NM_000365.6(TPI1):c.342G>C (p.Val114=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063765	NM_000365.6(TPI1):c.366dup (p.Gly123fs)	TPI1 (G41fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 719916	NM_000365.6(TPI1):c.366C>T (p.Leu122=)	TPI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12469	NM_000365.6(TPI1):c.367G>A (p.Gly123Arg)	TPI1 (G123R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174398	NM_000365.6(TPI1):c.376G>A (p.Ala126Thr)	TPI1 (A163T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388563	NM_000365.6(TPI1):c.376G>T (p.Ala126Ser)	TPI1 (A44S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330792	NM_000365.6(TPI1):c.383T>C (p.Ile128Thr)	TPI1 (I128T +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437189	NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)	TPI1 (A137P +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 3041165	NM_000365.6(TPI1):c.417C>T (p.Ile139=)	TPI1	Single nucleotide variant (synonymous variant)	TPI1-related disorder	GLikely benign
Select item 1357374	NM_000365.6(TPI1):c.426G>T (p.Lys142Asn)	TPI1 (K179N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132782	NM_000365.6(TPI1):c.433T>A (p.Phe145Ile)	TPI1 (F145I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2399754	NM_000365.6(TPI1):c.434T>C (p.Phe145Ser)	TPI1 (F182S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 753036	NM_000365.6(TPI1):c.435C>T (p.Phe145=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 12473	NM_000365.6(TPI1):c.436G>T (p.Glu146Ter)	TPI1 (E146* +2 more)	Single nucleotide variant (nonsense)	Triosephosphate isomerase deficiency	GPathogenic
Select item 618439	NM_000365.6(TPI1):c.448G>T (p.Val150Phe)	TPI1 (V150F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2437191	NM_000365.6(TPI1):c.453C>G (p.Ile151Met)	TPI1 (I151M +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 1673872	NM_000365.6(TPI1):c.453C>T (p.Ile151=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700102	NM_000365.6(TPI1):c.457+7C>G	TPI1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1642638	NM_000365.6(TPI1):c.458-18del	TPI1	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2087700	NM_000365.6(TPI1):c.458-11C>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1584106	NM_000365.6(TPI1):c.458-9del	TPI1	Deletion (intron variant)	not provided	GLikely benign
Select item 1932379	NM_000365.6(TPI1):c.458-7C>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543011	NM_000365.6(TPI1):c.458-5T>C	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1685182	NM_000365.6(TPI1):c.463G>A (p.Val155Met)	TPI1 (V155M +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2284974	NM_000365.6(TPI1):c.477C>G (p.Ser159Arg)	TPI1 (S77R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2437192	NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)	TPI1 (K160E +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 1515555	NM_000365.6(TPI1):c.484G>A (p.Val162Ile)	TPI1 (V199I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2264814	NM_000365.6(TPI1):c.491C>A (p.Ala164Asp)	TPI1 (A164D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12472	NM_000365.6(TPI1):c.511A>G (p.Ile171Val)	TPI1 (I171V +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GPathogenic
Select item 2986521	NM_000365.6(TPI1):c.528T>C (p.Thr176=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310361	NM_000365.6(TPI1):c.543+5C>G	TPI1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

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