ClinVar for MedGen (Select 482496) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25040791.	NM_022445.4(TPK1):c.224T>A (p.Ile75Asn) GRCh37: Chr7:144345934 GRCh38: Chr7:144648841	TPK1	I70N, I75N	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely pathogenic (May 29, 2023)	criteria provided, single submitter
Select item 24371962.	NM_022445.4(TPK1):c.593C>T (p.Thr198Ile) GRCh37: Chr7:144245604 GRCh38: Chr7:144548511	TPK1	T149I, T193I, T198I, T81I, T92I	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Jul 31, 2019)	criteria provided, single submitter
Select item 24371953.	NM_022445.4(TPK1):c.20C>T (p.Pro7Leu) GRCh37: Chr7:144532676 GRCh38: Chr7:144835583	TPK1	P7L	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 24267564.	NC_000007.13:g.(?_144094333)_(144532695_?)del GRCh37: Chr7:144094333-144532695	NOBOX, TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 24267555.	NC_000007.13:g.(?_144094333)_(144463064_?)dup GRCh37: Chr7:144094333-144463064	NOBOX, TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 24267546.	NC_000007.13:g.(?_144320239)_(144463064_?)dup GRCh37: Chr7:144320239-144463064	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 24267537.	NC_000007.13:g.(?_144462953)_(144532695_?)dup GRCh37: Chr7:144462953-144532695	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 24267528.	NC_000007.13:g.(?_144532633)_(144532695_?)dup GRCh37: Chr7:144532633-144532695	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 24267519.	NC_000007.13:g.(?_144288496)_(144320374_?)del GRCh37: Chr7:144288496-144320374	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 242675010.	NC_000007.13:g.(?_144288496)_(144345992_?)del GRCh37: Chr7:144288496-144345992	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 242674911.	NC_000007.13:g.(?_144245564)_(144463064_?)del GRCh37: Chr7:144245564-144463064	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Pathogenic (Sep 29, 2022)	criteria provided, single submitter
Select item 242674812.	NC_000007.13:g.(?_144320239)_(144320374_?)del GRCh37: Chr7:144320239-144320374	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 242674713.	NC_000007.13:g.(?_144532633)_(144532695_?)del GRCh37: Chr7:144532633-144532695	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 219229814.	NM_022445.4(TPK1):c.185+20A>G GRCh37: Chr7:144379982 GRCh38: Chr7:144682889	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 216952915.	NM_022445.4(TPK1):c.263G>A (p.Cys88Tyr) GRCh37: Chr7:144320350 GRCh38: Chr7:144623257	TPK1	C83Y, C88Y	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 216811616.	NM_022445.4(TPK1):c.258+12del GRCh37: Chr7:144345888 GRCh38: Chr7:144648795	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 215999617.	NM_022445.4(TPK1):c.575G>A (p.Cys192Tyr) GRCh37: Chr7:144245622 GRCh38: Chr7:144548529	TPK1	C143Y, C187Y, C75Y, C192Y, C86Y	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 215986118.	NM_022445.4(TPK1):c.72T>C (p.Leu24=) GRCh37: Chr7:144463016 GRCh38: Chr7:144765923	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 213169519.	NM_022445.4(TPK1):c.293A>C (p.His98Pro) GRCh37: Chr7:144320320 GRCh38: Chr7:144623227	TPK1	H93P, H98P	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 213112120.	NM_022445.4(TPK1):c.33G>A (p.Leu11=) GRCh37: Chr7:144532663 GRCh38: Chr7:144835570	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 213046121.	NM_022445.4(TPK1):c.715A>G (p.Met239Val) GRCh37: Chr7:144150655 GRCh38: Chr7:144453562	TPK1	M234V, M239V, M190V, M122V, M133V	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 211893422.	NM_022445.4(TPK1):c.152G>T (p.Arg51Leu) GRCh37: Chr7:144380035 GRCh38: Chr7:144682942	TPK1	A6S, R51L	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 211655023.	NM_022445.4(TPK1):c.22T>C (p.Leu8=) GRCh37: Chr7:144532674 GRCh38: Chr7:144835581	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 211080624.	NM_022445.4(TPK1):c.66A>C (p.Val22=) GRCh37: Chr7:144463022 GRCh38: Chr7:144765929	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 209662325.	NM_022445.4(TPK1):c.657T>C (p.Asn219=) GRCh37: Chr7:144150713 GRCh38: Chr7:144453620	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209346826.	NM_022445.4(TPK1):c.61C>T (p.Leu21Phe) GRCh37: Chr7:144463027 GRCh38: Chr7:144765934	TPK1	L21F	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 206654427.	NM_022445.4(TPK1):c.84G>A (p.Leu28=) GRCh37: Chr7:144463004 GRCh38: Chr7:144765911	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 206288528.	NM_022445.4(TPK1):c.98G>C (p.Arg33Pro) GRCh37: Chr7:144462990 GRCh38: Chr7:144765897	TPK1	R33P	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 205869529.	NM_022445.4(TPK1):c.538G>A (p.Gly180Ser) GRCh37: Chr7:144245659 GRCh38: Chr7:144548566	TPK1	G175S, G131S, G74S, G180S, G63S	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 205003730.	NM_022445.4(TPK1):c.428T>A (p.Phe143Tyr) GRCh37: Chr7:144288589 GRCh38: Chr7:144591496	TPK1	F138Y, F143Y, F26Y, F37Y	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 204247931.	NM_022445.4(TPK1):c.157T>C (p.Tyr53His) GRCh37: Chr7:144380030 GRCh38: Chr7:144682937	TPK1	Y53H	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 203290232.	NM_022445.4(TPK1):c.185+12T>A GRCh37: Chr7:144379990 GRCh38: Chr7:144682897	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 203248833.	NM_022445.4(TPK1):c.624G>C (p.Val208=) GRCh37: Chr7:144150746 GRCh38: Chr7:144453653	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 202055934.	NM_022445.4(TPK1):c.501+7C>A GRCh37: Chr7:144288509 GRCh38: Chr7:144591416	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 201994135.	NM_022445.4(TPK1):c.186-17C>T GRCh37: Chr7:144345989 GRCh38: Chr7:144648896	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 201740236.	NM_022445.4(TPK1):c.43+20G>A GRCh37: Chr7:144532633 GRCh38: Chr7:144835540	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 201539237.	NM_022445.4(TPK1):c.441C>A (p.His147Gln) GRCh37: Chr7:144288576 GRCh38: Chr7:144591483	TPK1	H142Q, H41Q, H147Q, H30Q	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 201101338.	NM_022445.4(TPK1):c.562G>T (p.Val188Phe) GRCh37: Chr7:144245635 GRCh38: Chr7:144548542	TPK1	V139F, V82F, V183F, V188F, V71F	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 200166639.	NM_022445.4(TPK1):c.137A>T (p.Asp46Val) GRCh37: Chr7:144380050 GRCh38: Chr7:144682957	TPK1	D46V, M1L	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 199846340.	NM_022445.4(TPK1):c.79C>T (p.Pro27Ser) GRCh37: Chr7:144463009 GRCh38: Chr7:144765916	TPK1	P27S	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199488041.	NM_022445.4(TPK1):c.250G>A (p.Ala84Thr) GRCh37: Chr7:144345908 GRCh38: Chr7:144648815	TPK1	A79T, A84T	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 198472742.	NM_022445.4(TPK1):c.177G>A (p.Glu59=) GRCh37: Chr7:144380010 GRCh38: Chr7:144682917	TPK1	R14K	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 195584543.	NM_022445.4(TPK1):c.277A>C (p.Thr93Pro) GRCh37: Chr7:144320336 GRCh38: Chr7:144623243	TPK1	T88P, T93P	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 195374744.	NM_022445.4(TPK1):c.614C>T (p.Thr205Ile) GRCh37: Chr7:144150756 GRCh38: Chr7:144453663	TPK1	T88I, T156I, T200I, T99I, T205I	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 195281845.	NM_022445.4(TPK1):c.9T>C (p.His3=) GRCh37: Chr7:144532687 GRCh38: Chr7:144835594	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 192806446.	NM_022445.4(TPK1):c.355-20G>C GRCh37: Chr7:144288682 GRCh38: Chr7:144591589	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 192780447.	NM_022445.4(TPK1):c.614-11T>C GRCh37: Chr7:144150767 GRCh38: Chr7:144453674	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 192202748.	NM_022445.4(TPK1):c.354+9T>G GRCh37: Chr7:144320250 GRCh38: Chr7:144623157	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 166943449.	NM_022445.4(TPK1):c.501+14G>A GRCh37: Chr7:144288502 GRCh38: Chr7:144591409	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 165348750.	NM_022445.4(TPK1):c.186-19del GRCh37: Chr7:144345991 GRCh38: Chr7:144648898	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 165044151.	NM_022445.4(TPK1):c.116-11del GRCh37: Chr7:144380082 GRCh38: Chr7:144682989	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 164850852.	NM_022445.4(TPK1):c.246C>T (p.Tyr82=) GRCh37: Chr7:144345912 GRCh38: Chr7:144648819	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Nov 5, 2020)	criteria provided, single submitter
Select item 162562053.	NM_022445.4(TPK1):c.259-16T>A GRCh37: Chr7:144320370 GRCh38: Chr7:144623277	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Jan 4, 2021)	criteria provided, single submitter
Select item 160616854.	NM_022445.4(TPK1):c.355-15A>G GRCh37: Chr7:144288677 GRCh38: Chr7:144591584	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 158890655.	NM_022445.4(TPK1):c.30C>G (p.Pro10=) GRCh37: Chr7:144532666 GRCh38: Chr7:144835573	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Nov 17, 2021)	criteria provided, single submitter
Select item 158377856.	NM_022445.4(TPK1):c.480G>A (p.Ser160=) GRCh37: Chr7:144288537 GRCh38: Chr7:144591444	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 157875957.	NM_022445.4(TPK1):c.502-9C>A GRCh37: Chr7:144245704 GRCh38: Chr7:144548611	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 156902558.	NM_022445.4(TPK1):c.614-18T>C GRCh37: Chr7:144150774 GRCh38: Chr7:144453681	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 155578559.	NM_022445.4(TPK1):c.185+17T>A GRCh37: Chr7:144379985 GRCh38: Chr7:144682892	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 153916260.	NM_022445.4(TPK1):c.258+14A>T GRCh37: Chr7:144345886 GRCh38: Chr7:144648793	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 153597661.	NM_022445.4(TPK1):c.186-19T>C GRCh37: Chr7:144345991 GRCh38: Chr7:144648898	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 152896362.	NM_022445.4(TPK1):c.614-19T>C GRCh37: Chr7:144150775 GRCh38: Chr7:144453682	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 152835263.	NM_022445.4(TPK1):c.259-20dup GRCh37: Chr7:144320373-144320374 GRCh38: Chr7:144623280-144623281	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Benign (Aug 31, 2022)	criteria provided, single submitter
Select item 152192164.	NM_022445.4(TPK1):c.502-3C>T GRCh37: Chr7:144245698 GRCh38: Chr7:144548605	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 151303765.	NM_022445.4(TPK1):c.518A>C (p.His173Pro) GRCh37: Chr7:144245679 GRCh38: Chr7:144548586	TPK1	H124P, H67P, H168P, H173P, H56P	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Aug 16, 2021)	criteria provided, single submitter
Select item 150484066.	NM_022445.4(TPK1):c.49T>A (p.Leu17Met) GRCh37: Chr7:144463039 GRCh38: Chr7:144765946	TPK1	L17M	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 148989767.	NM_022445.4(TPK1):c.259G>A (p.Gly87Arg) GRCh37: Chr7:144320354 GRCh38: Chr7:144623261	TPK1	G87R, G82R	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 148124268.	NM_022445.4(TPK1):c.334A>G (p.Ile112Val) GRCh37: Chr7:144320279 GRCh38: Chr7:144623186	TPK1	I107V, I112V, I6V	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Sep 18, 2021)	criteria provided, single submitter
Select item 147698169.	NM_022445.4(TPK1):c.501+1G>T GRCh37: Chr7:144288515 GRCh38: Chr7:144591422	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 146551670.	NM_022445.4(TPK1):c.354G>C (p.Lys118Asn) GRCh37: Chr7:144320259 GRCh38: Chr7:144623166	TPK1	K118N, K113N, K12N	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 146301271.	NM_022445.4(TPK1):c.501+5G>A GRCh37: Chr7:144288511 GRCh38: Chr7:144591418	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Oct 11, 2021)	criteria provided, single submitter
Select item 146182372.	NM_022445.4(TPK1):c.562G>C (p.Val188Leu) GRCh37: Chr7:144245635 GRCh38: Chr7:144548542	TPK1	V188L, V139L, V71L, V183L, V82L	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 144973673.	NC_000007.13:g.(?_144150638)_(144150776_?)del GRCh37: Chr7:144150638-144150776	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 144933374.	NC_000007.13:g.(?_144094333)_(144150776_?)dup GRCh37: Chr7:144094333-144150776	NOBOX, TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 144823075.	NM_022445.4(TPK1):c.86A>G (p.Asp29Gly) GRCh37: Chr7:144463002 GRCh38: Chr7:144765909	TPK1	D29G	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 144496076.	NC_000007.13:g.(?_144245564)_(144380091_?)del GRCh37: Chr7:144245564-144380091	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 143111277.	NM_022445.4(TPK1):c.706C>G (p.Leu236Val) GRCh37: Chr7:144150664 GRCh38: Chr7:144453571	TPK1	L231V, L187V, L236V, L119V, L130V	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 142814378.	NM_022445.4(TPK1):c.164T>A (p.Ile55Asn) GRCh37: Chr7:144380023 GRCh38: Chr7:144682930	TPK1	I55N, S10T	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 142784479.	NM_022445.4(TPK1):c.676G>A (p.Val226Ile) GRCh37: Chr7:144150694 GRCh38: Chr7:144453601	TPK1	V109I, V221I, V120I, V177I, V226I	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 140923580.	NM_022445.4(TPK1):c.385G>A (p.Ala129Thr) GRCh37: Chr7:144288632 GRCh38: Chr7:144591539	TPK1	A23T, A124T, A12T, A129T	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 139992481.	NM_022445.4(TPK1):c.13T>C (p.Phe5Leu) GRCh37: Chr7:144532683 GRCh38: Chr7:144835590	TPK1	F5L	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 139221282.	NM_022445.4(TPK1):c.40A>G (p.Thr14Ala) GRCh37: Chr7:144532656 GRCh38: Chr7:144835563	TPK1	T14A	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 139166683.	NM_022445.4(TPK1):c.463A>G (p.Ile155Val) GRCh37: Chr7:144288554 GRCh38: Chr7:144591461	TPK1	I38V, I49V, I150V, I155V	Inborn genetic diseases, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 138891084.	NM_022445.4(TPK1):c.259-3T>C GRCh37: Chr7:144320357 GRCh38: Chr7:144623264	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 138771785.	NM_022445.4(TPK1):c.202A>G (p.Ile68Val) GRCh37: Chr7:144345956 GRCh38: Chr7:144648863	TPK1	I68V, I63V	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Oct 18, 2021)	criteria provided, single submitter
Select item 138297086.	NM_022445.4(TPK1):c.484A>T (p.Ile162Phe) GRCh37: Chr7:144288533 GRCh38: Chr7:144591440	TPK1	I162F, I45F, I157F, I56F	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 138290487.	NM_022445.4(TPK1):c.136G>A (p.Asp46Asn) GRCh37: Chr7:144380051 GRCh38: Chr7:144682958	TPK1	D46N	Inborn genetic diseases, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Dec 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137552288.	NM_022445.4(TPK1):c.394T>C (p.Phe132Leu) GRCh37: Chr7:144288623 GRCh38: Chr7:144591530	TPK1	F26L, F127L, F15L, F132L	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Aug 16, 2021)	criteria provided, single submitter
Select item 136619589.	NM_022445.4(TPK1):c.74A>G (p.Asn25Ser) GRCh37: Chr7:144463014 GRCh38: Chr7:144765921	TPK1	N25S	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 130593390.	NM_022445.4(TPK1):c.169G>A (p.Glu57Lys) GRCh37: Chr7:144380018 GRCh38: Chr7:144682925	TPK1	E57K	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, not provided	Uncertain significance (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115802391.	NM_022445.4(TPK1):c.639A>G (p.Thr213=) GRCh37: Chr7:144150731 GRCh38: Chr7:144453638	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 113673392.	NM_022445.4(TPK1):c.116-8A>G GRCh37: Chr7:144380079 GRCh38: Chr7:144682986	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Mar 6, 2020)	criteria provided, single submitter
Select item 113416793.	NM_022445.4(TPK1):c.355-7T>C GRCh37: Chr7:144288669 GRCh38: Chr7:144591576	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 112952794.	NM_022445.4(TPK1):c.44-4C>T GRCh37: Chr7:144463048 GRCh38: Chr7:144765955	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 112949995.	NM_022445.4(TPK1):c.121T>C (p.Leu41=) GRCh37: Chr7:144380066 GRCh38: Chr7:144682973	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 112810696.	NM_022445.4(TPK1):c.354+9T>C GRCh37: Chr7:144320250 GRCh38: Chr7:144623157	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 111884797.	NM_022445.4(TPK1):c.465A>C (p.Ile155=) GRCh37: Chr7:144288552 GRCh38: Chr7:144591459	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Sep 26, 2019)	criteria provided, single submitter
Select item 111785698.	NM_022445.4(TPK1):c.669G>C (p.Gly223=) GRCh37: Chr7:144150701 GRCh38: Chr7:144453608	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 111083599.	NM_022445.4(TPK1):c.270C>T (p.Leu90=) GRCh37: Chr7:144320343 GRCh38: Chr7:144623250	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 1097560100.	NM_022445.4(TPK1):c.555T>C (p.Leu185=) GRCh37: Chr7:144245642 GRCh38: Chr7:144548549	TPK1		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Likely benign (Sep 10, 2022)	criteria provided, single submitter

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