ClinVar for MedGen (Select 349893) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362762	NM_000365.6(TPI1):c.698G>C (p.Gly233Ala)	TPI1 (G151A +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
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 2700102	NM_000365.6(TPI1):c.457+7C>G	TPI1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 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 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 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 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 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 2437190	NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)	TPI1 (P143T +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 1698892	NM_000365.6(TPI1):c.544-1G>C	TPI1	Single nucleotide variant (splice acceptor variant)	Triosephosphate isomerase deficiency	GLikely pathogenic
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 1526032	NM_000365.6(TPI1):c.694G>A (p.Val232Met)	TPI1 (V150M +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 1432423	NM_000365.6(TPI1):c.730A>G (p.Ile244Val)	TPI1 (I281V +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency +1 more	GUncertain significance
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 1330823	NM_000365.6(TPI1):c.116-12T>C	TPI1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 1330436	NM_000365.6(TPI1):c.690C>T (p.Phe230=)	TPI1	Single nucleotide variant (synonymous variant)	Triosephosphate isomerase deficiency	GLikely benign
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 883798	NM_000365.6(TPI1):c.*388C>T	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GBenign
Select item 883797	NM_000365.6(TPI1):c.*253G>T	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 883796	NM_000365.6(TPI1):c.*219C>T	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GUncertain significance
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 883012	NM_000365.6(TPI1):c.*173G>A	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 883011	NM_000365.6(TPI1):c.*134C>A	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 883010	NM_000365.6(TPI1):c.*39G>A	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GBenign
Select item 883009	NM_000365.6(TPI1):c.737A>G (p.Asn246Ser)	TPI1 (N283S +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency +2 more	GUncertain significance
Select item 881845	NM_000365.6(TPI1):c.599C>T (p.Ala200Val)	TPI1 (A200V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 881844	NM_000365.6(TPI1):c.558C>T (p.His186=)	TPI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881467	NM_000365.6(TPI1):c.*549A>G	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GLikely benign
Select item 881466	NM_000365.6(TPI1):c.*520T>C	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 881465	NM_000365.6(TPI1):c.*519T>C	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GLikely benign
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 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 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 811143	NC_000012.12:g.6867505T>G	TPI1 (I17R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 719916	NM_000365.6(TPI1):c.366C>T (p.Leu122=)	TPI1	Single nucleotide variant (synonymous variant)	Triosephosphate isomerase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 717256	NM_000365.6(TPI1):c.600G>A (p.Ala200=)	TPI1	Single nucleotide variant (synonymous variant)	Triosephosphate isomerase deficiency +1 more	GBenign/Likely benign
Select item 634548	NM_000365.6(TPI1):c.617G>A (p.Arg206His)	TPI1 (R206H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 627563	NM_000365.6(TPI1):c.569G>A (p.Arg190Gln)	TPI1 (R190Q +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
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 369027	NC_000012.12:g.6867524A>G	TPI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 369026	NC_000012.12:g.6867521G>A	TPI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 310373	NM_000365.6(TPI1):c.542_544del	TPI1	Deletion (3 prime UTR variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 310372	NM_000365.6(TPI1):c.*541dup	TPI1	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 310371	NM_000365.6(TPI1):c.*420T>C	TPI1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 310370	NM_000365.6(TPI1):c.*341C>T	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency +1 more	GBenign
Select item 310369	NM_000365.6(TPI1):c.*260G>A	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 310368	NM_000365.6(TPI1):c.*239C>T	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 310367	NM_000365.6(TPI1):c.*178G>A	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GLikely benign
Select item 310366	NM_000365.6(TPI1):c.*69C>T	TPI1	Single nucleotide variant (3 prime UTR variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 310365	NM_000365.6(TPI1):c.631+13G>A	TPI1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 310364	NM_000365.6(TPI1):c.544-10C>G	TPI1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 310363	NM_000365.6(TPI1):c.544-14G>A	TPI1	Single nucleotide variant (intron variant)	Triosephosphate isomerase deficiency +1 more	GBenign
Select item 310362	NM_000365.6(TPI1):c.543+6C>T	TPI1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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
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 310359	NM_000365.6(TPI1):c.261C>T (p.Cys87=)	TPI1	Single nucleotide variant (synonymous variant)	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 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 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 136173	NM_000365.6(TPI1):c.32dup (p.Asn12fs)	TPI1 (N12fs +1 more)	Duplication (frameshift variant)	Triosephosphate isomerase deficiency	GPathogenic
Select item 136172	NM_000365.6(TPI1):c.722T>C (p.Phe241Ser)	TPI1 (F241S +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GPathogenic
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 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 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 12470	NM_000365.6(TPI1):c.721T>C (p.Phe241Leu)	TPI1 (F159L +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GPathogenic
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

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Items: 69