ClinVar for MedGen (Select 904159) - ClinVar

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Items: 22

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25826961.	NM_033453.4(ITPA):c.137del (p.Gln46fs) GRCh37: Chr20:3193977 GRCh38: Chr20:3213331	ITPA	Q29fs, Q46fs	Developmental and epileptic encephalopathy, 35	Likely pathogenic	criteria provided, single submitter
Select item 24444042.	NM_033453.4(ITPA):c.142G>T (p.Glu48Ter) GRCh37: Chr20:3193982 GRCh38: Chr20:3213336	ITPA	E31, E48	Developmental and epileptic encephalopathy, 35	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 18051013.	NM_033453.4(ITPA):c.*53C>T GRCh37: Chr20:3204161 GRCh38: Chr20:3223515	ITPA	Q101*	Developmental and epileptic encephalopathy, 35	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 14761244.	NM_033453.4(ITPA):c.264-1G>A GRCh37: Chr20:3195926 GRCh38: Chr20:3215280	ITPA		Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35	Pathogenic/Likely pathogenic (May 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 11701085.	NM_033453.4(ITPA):c.561G>A (p.Glu187=) GRCh37: Chr20:3204084 GRCh38: Chr20:3223438	ITPA	S75N	not provided, Developmental and epileptic encephalopathy, 35, Inosine triphosphatase deficiency	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11701076.	NM_033453.4(ITPA):c.138G>A (p.Gln46=) GRCh37: Chr20:3193978 GRCh38: Chr20:3213332	ITPA		Developmental and epileptic encephalopathy, 35, not provided, not specified, Inosine triphosphatase deficiency	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10285217.	NM_033453.4(ITPA):c.66+3G>C GRCh37: Chr20:3190266 GRCh38: Chr20:3209620	ITPA		Developmental and epileptic encephalopathy, 35	Uncertain significance (May 20, 2019)	criteria provided, single submitter
Select item 9735858.	NM_033453.4(ITPA):c.136_138delinsTAA (p.Gln46Ter) GRCh37: Chr20:3193976-3193978 GRCh38: Chr20:3213330-3213332	ITPA	Q29, Q46	Developmental and epileptic encephalopathy, 35	Likely pathogenic	criteria provided, single submitter
Select item 9463609.	NM_033453.4(ITPA):c.416G>A (p.Arg139Gln) GRCh37: Chr20:3202491 GRCh38: Chr20:3221845	ITPA	R98Q, G27R, R139Q, R122Q	Inborn genetic diseases, Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 93169410.	NM_033453.4(ITPA):c.302A>G (p.His101Arg) GRCh37: Chr20:3199169 GRCh38: Chr20:3218523	ITPA	H101R, H60R, H84R	Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80761411.	NM_033453.4(ITPA):c.271T>C (p.Phe91Leu) GRCh37: Chr20:3195934 GRCh38: Chr20:3215288	ITPA	F50L, F74L, F91L	Developmental and epileptic encephalopathy, 35	Likely pathogenic (Feb 15, 2019)	criteria provided, single submitter
Select item 80428912.	NM_033453.4(ITPA):c.263+583_295+1203del GRCh37: Chr20:3195287-3197161 GRCh38: Chr20:3214641-3216515	ITPA		Developmental and epileptic encephalopathy, 35	Pathogenic (Aug 5, 2019)	criteria provided, single submitter
Select item 80416213.	NM_033453.4(ITPA):c.124+2T>C GRCh37: Chr20:3193874 GRCh38: Chr20:3213228	ITPA		Developmental and epileptic encephalopathy, 35, Inosine triphosphatase deficiency	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46483314.	NM_033453.4(ITPA):c.316G>C (p.Gly106Arg) GRCh37: Chr20:3199183 GRCh38: Chr20:3218537	ITPA	G106R, G65R, G89R	Developmental and epileptic encephalopathy, 35, Inosine triphosphatase deficiency	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46482715.	NM_033453.4(ITPA):c.124C>T (p.Leu42=) GRCh37: Chr20:3193872 GRCh38: Chr20:3213226	ITPA		not provided, Inosine triphosphatase deficiency, Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44590216.	NM_033453.4(ITPA):c.278A>G (p.Glu93Gly) GRCh37: Chr20:3195941 GRCh38: Chr20:3215295	ITPA	E93G, E52G, E76G	Developmental and epileptic encephalopathy, 35, Inosine triphosphatase deficiency, not specified, Inosine triphosphatase deficiency, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43171417.	NM_033453.4(ITPA):c.488C>T (p.Thr163Met) GRCh37: Chr20:3202563 GRCh38: Chr20:3221917	ITPA	T163M, T122M, T146M, R51C	Developmental and epileptic encephalopathy, 35, Inosine triphosphatase deficiency	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21809118.	NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) GRCh37: Chr20:3199224-3199225 GRCh38: Chr20:3218578-3218579	ITPA	G106fs, G82fs, G11fs, G123fs	Partial congenital absence of teeth, not provided, Developmental and epileptic encephalopathy, 35, Inosine triphosphatase deficiency	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21809019.	NM_033453.4(ITPA):c.532C>T (p.Arg178Cys) GRCh37: Chr20:3204055 GRCh38: Chr20:3223409	ITPA	R178C, R161C, R137C	ITPA-related condition, not provided, Inosine triphosphatase deficiency	Conflicting interpretations of pathogenicity (Jul 20, 2023)	criteria provided, conflicting interpretations
Select item 21808920.	NM_033453.4(ITPA):c.452G>A (p.Trp151Ter) GRCh37: Chr20:3202527 GRCh38: Chr20:3221881	ITPA	W151, G39R, W110, W134*	not provided, Inosine triphosphatase deficiency	Pathogenic (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21808821.	NM_033453.4(ITPA):c.264-607_295+1267del GRCh37: Chr20:3195320-3197225 GRCh38: Chr20:3214674-3216579	ITPA		Developmental and epileptic encephalopathy, 35	Pathogenic (Oct 1, 2015)	no assertion criteria provided
Select item 1474722.	NM_033453.4(ITPA):c.124+21A>C GRCh37: Chr20:3193893 GRCh38: Chr20:3213247	ITPA		peginterferon alfa-2b and ribavirin response - Toxicity	drug response (Mar 24, 2021)	reviewed by expert panel

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Items: 22