ClinVar for MedGen (Select 482496) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2987028	NM_022445.4(TPK1):c.259-14A>T	TPK1	Single nucleotide variant (intron variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2906050	NM_022445.4(TPK1):c.123A>G (p.Leu41=)	TPK1	Single nucleotide variant (synonymous variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2903454	NM_022445.4(TPK1):c.180A>G (p.Arg60=)	TPK1 (E15G)	Single nucleotide variant (synonymous variant +4 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2903118	NM_022445.4(TPK1):c.354+12A>G	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2901395	NM_022445.4(TPK1):c.501+9A>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2898745	NM_022445.4(TPK1):c.231T>G (p.Pro77=)	TPK1	Single nucleotide variant (synonymous variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2891608	NM_022445.4(TPK1):c.614-15C>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2882013	NM_022445.4(TPK1):c.43+15T>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2880844	NM_022445.4(TPK1):c.115+15C>T	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2863834	NM_022445.4(TPK1):c.501+12G>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2857481	NM_022445.4(TPK1):c.565G>T (p.Gly189Ter)	TPK1 (G184* +4 more)	Single nucleotide variant (nonsense +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GPathogenic
Select item 2852884	NM_022445.4(TPK1):c.44-12_44-5del	TPK1	Deletion (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2848978	NM_022445.4(TPK1):c.43+12C>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2839611	NM_022445.4(TPK1):c.645C>T (p.Val215=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2825875	NM_022445.4(TPK1):c.186-7C>T	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2819348	NM_022445.4(TPK1):c.191dup (p.Leu64fs)	TPK1 (L64fs +1 more)	Duplication (frameshift variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GPathogenic
Select item 2811562	NM_022445.4(TPK1):c.507G>A (p.Lys169=)	TPK1	Single nucleotide variant (synonymous variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2805590	NM_022445.4(TPK1):c.552C>G (p.Gly184=)	TPK1	Single nucleotide variant (synonymous variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2804702	NM_022445.4(TPK1):c.258+20T>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2789791	NM_022445.4(TPK1):c.303T>C (p.Phe101=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2786390	NM_022445.4(TPK1):c.501+16A>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2785136	NM_022445.4(TPK1):c.258+15T>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2784029	NM_022445.4(TPK1):c.354+8A>G	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2763710	NM_022445.4(TPK1):c.115+1G>T	TPK1	Single nucleotide variant (splice donor variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely pathogenic
Select item 2761466	NM_022445.4(TPK1):c.354+20G>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2759515	NM_022445.4(TPK1):c.564T>C (p.Val188=)	TPK1	Single nucleotide variant (synonymous variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2714299	NM_022445.4(TPK1):c.115+15C>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2504079	NM_022445.4(TPK1):c.224T>A (p.Ile75Asn)	TPK1 (I70N +1 more)	Single nucleotide variant (intron variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely pathogenic
Select item 2437196	NM_022445.4(TPK1):c.593C>T (p.Thr198Ile)	TPK1 (T149I +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2437195	NM_022445.4(TPK1):c.20C>T (p.Pro7Leu)	TPK1 (P7L)	Single nucleotide variant (missense variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2426756	NC_000007.13:g.(?_144094333)_(144532695_?)del	NOBOX, TPK1	Deletion	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GPathogenic
Select item 2426755	NC_000007.13:g.(?_144094333)_(144463064_?)dup	NOBOX, TPK1	Duplication	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2426754	NC_000007.13:g.(?_144320239)_(144463064_?)dup	TPK1	Duplication	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely pathogenic
Select item 2426753	NC_000007.13:g.(?_144462953)_(144532695_?)dup	TPK1	Duplication	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2426752	NC_000007.13:g.(?_144532633)_(144532695_?)dup	TPK1	Duplication	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2426751	NC_000007.13:g.(?_144288496)_(144320374_?)del	TPK1	Deletion	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GPathogenic
Select item 2426750	NC_000007.13:g.(?_144288496)_(144345992_?)del	TPK1	Deletion	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GPathogenic
Select item 2426749	NC_000007.13:g.(?_144245564)_(144463064_?)del	TPK1	Deletion	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GPathogenic
Select item 2426748	NC_000007.13:g.(?_144320239)_(144320374_?)del	TPK1	Deletion	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2426747	NC_000007.13:g.(?_144532633)_(144532695_?)del	TPK1	Deletion	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GPathogenic
Select item 2192298	NM_022445.4(TPK1):c.185+20A>G	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2169529	NM_022445.4(TPK1):c.263G>A (p.Cys88Tyr)	TPK1 (C83Y +1 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2168116	NM_022445.4(TPK1):c.258+12del	TPK1	Deletion (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2159996	NM_022445.4(TPK1):c.575G>A (p.Cys192Tyr)	TPK1 (C143Y +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2159861	NM_022445.4(TPK1):c.72T>C (p.Leu24=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2131695	NM_022445.4(TPK1):c.293A>C (p.His98Pro)	TPK1 (H93P +1 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2131121	NM_022445.4(TPK1):c.33G>A (p.Leu11=)	TPK1	Single nucleotide variant (synonymous variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2130461	NM_022445.4(TPK1):c.715A>G (p.Met239Val)	TPK1 (M234V +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2118934	NM_022445.4(TPK1):c.152G>T (p.Arg51Leu)	TPK1 (A6S +1 more)	Single nucleotide variant (intron variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2116550	NM_022445.4(TPK1):c.22T>C (p.Leu8=)	TPK1	Single nucleotide variant (synonymous variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2110806	NM_022445.4(TPK1):c.66A>C (p.Val22=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2096623	NM_022445.4(TPK1):c.657T>C (p.Asn219=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2093468	NM_022445.4(TPK1):c.61C>T (p.Leu21Phe)	TPK1 (L21F)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2066544	NM_022445.4(TPK1):c.84G>A (p.Leu28=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2062885	NM_022445.4(TPK1):c.98G>C (p.Arg33Pro)	TPK1 (R33P)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2058695	NM_022445.4(TPK1):c.538G>A (p.Gly180Ser)	TPK1 (G175S +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2050037	NM_022445.4(TPK1):c.428T>A (p.Phe143Tyr)	TPK1 (F138Y +3 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2042479	NM_022445.4(TPK1):c.157T>C (p.Tyr53His)	TPK1 (Y53H)	Single nucleotide variant (missense variant +4 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2032902	NM_022445.4(TPK1):c.185+12T>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2032488	NM_022445.4(TPK1):c.624G>C (p.Val208=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2020559	NM_022445.4(TPK1):c.501+7C>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2019941	NM_022445.4(TPK1):c.186-17C>T	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 2017402	NM_022445.4(TPK1):c.43+20G>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2015392	NM_022445.4(TPK1):c.441C>A (p.His147Gln)	TPK1 (H142Q +3 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2011013	NM_022445.4(TPK1):c.562G>T (p.Val188Phe)	TPK1 (V139F +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2001666	NM_022445.4(TPK1):c.137A>T (p.Asp46Val)	TPK1 (D46V +1 more)	Single nucleotide variant (missense variant +4 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1998463	NM_022445.4(TPK1):c.79C>T (p.Pro27Ser)	TPK1 (P27S)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1994880	NM_022445.4(TPK1):c.250G>A (p.Ala84Thr)	TPK1 (A79T +1 more)	Single nucleotide variant (missense variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1984727	NM_022445.4(TPK1):c.177G>A (p.Glu59=)	TPK1 (R14K)	Single nucleotide variant (synonymous variant +4 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1955845	NM_022445.4(TPK1):c.277A>C (p.Thr93Pro)	TPK1 (T88P +1 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1953747	NM_022445.4(TPK1):c.614C>T (p.Thr205Ile)	TPK1 (T88I +4 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1952818	NM_022445.4(TPK1):c.9T>C (p.His3=)	TPK1	Single nucleotide variant (synonymous variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1928064	NM_022445.4(TPK1):c.355-20G>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1927804	NM_022445.4(TPK1):c.614-11T>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1922027	NM_022445.4(TPK1):c.354+9T>G	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1669434	NM_022445.4(TPK1):c.501+14G>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1653487	NM_022445.4(TPK1):c.186-19del	TPK1	Deletion (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1650441	NM_022445.4(TPK1):c.116-11del	TPK1	Deletion (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1648508	NM_022445.4(TPK1):c.246C>T (p.Tyr82=)	TPK1	Single nucleotide variant (5 prime UTR variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1625620	NM_022445.4(TPK1):c.259-16T>A	TPK1	Single nucleotide variant (intron variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1606168	NM_022445.4(TPK1):c.355-15A>G	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1588906	NM_022445.4(TPK1):c.30C>G (p.Pro10=)	TPK1	Single nucleotide variant (synonymous variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1583778	NM_022445.4(TPK1):c.480G>A (p.Ser160=)	TPK1	Single nucleotide variant (synonymous variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1578759	NM_022445.4(TPK1):c.502-9C>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1569025	NM_022445.4(TPK1):c.614-18T>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1555785	NM_022445.4(TPK1):c.185+17T>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1539162	NM_022445.4(TPK1):c.258+14A>T	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1535976	NM_022445.4(TPK1):c.186-19T>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1528963	NM_022445.4(TPK1):c.614-19T>C	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely benign
Select item 1528352	NM_022445.4(TPK1):c.259-20dup	TPK1	Duplication (intron variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GBenign
Select item 1521921	NM_022445.4(TPK1):c.502-3C>T	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1513037	NM_022445.4(TPK1):c.518A>C (p.His173Pro)	TPK1 (H124P +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1504840	NM_022445.4(TPK1):c.49T>A (p.Leu17Met)	TPK1 (L17M)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1489897	NM_022445.4(TPK1):c.259G>A (p.Gly87Arg)	TPK1 (G87R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1481242	NM_022445.4(TPK1):c.334A>G (p.Ile112Val)	TPK1 (I107V +2 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1476981	NM_022445.4(TPK1):c.501+1G>T	TPK1	Single nucleotide variant (splice donor variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely pathogenic
Select item 1465516	NM_022445.4(TPK1):c.354G>C (p.Lys118Asn)	TPK1 (K118N +2 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1463012	NM_022445.4(TPK1):c.501+5G>A	TPK1	Single nucleotide variant (intron variant)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1461823	NM_022445.4(TPK1):c.562G>C (p.Val188Leu)	TPK1 (V188L +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1449736	NC_000007.13:g.(?_144150638)_(144150776_?)del	TPK1	Deletion	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance

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