ClinVar for MedGen (Select 904159) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255005	NM_033453.4(ITPA):c.325G>T (p.Asp109Tyr)	ITPA (D109Y +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 35	GLikely pathogenic
Select item 3148970	NM_033453.4(ITPA):c.489-1G>T	ITPA	Single nucleotide variant (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 35	GLikely pathogenic
Select item 3064882	NM_033453.4(ITPA):c.215A>G (p.Asp72Gly)	ITPA (D114G +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 35	GUncertain significance
Select item 3064387	NM_033453.4(ITPA):c.205_207del (p.Leu69del)	ITPA (L111del +3 more)	Deletion (inframe_deletion +2 more)	Developmental and epileptic encephalopathy, 35	GUncertain significance
Select item 2582696	NM_033453.4(ITPA):c.137del (p.Gln46fs)	ITPA (Q29fs +2 more)	Deletion (frameshift variant +2 more)	Developmental and epileptic encephalopathy, 35	GLikely pathogenic
Select item 2444404	NM_033453.4(ITPA):c.142G>T (p.Glu48Ter)	ITPA (E31* +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 35	GPathogenic
Select item 1986978	NM_033453.4(ITPA):c.253G>A (p.Gly85Ser)	ITPA (G68S +3 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1805101	NM_033453.4(ITPA):c.*53C>T	ITPA (Q101* +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Developmental and epileptic encephalopathy, 35	GUncertain significance
Select item 1476124	NM_033453.4(ITPA):c.264-1G>A	ITPA	Single nucleotide variant (splice acceptor variant)	Inosine triphosphatase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1170108	NM_033453.4(ITPA):c.561G>A (p.Glu187=)	ITPA (S75N)	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency +3 more	GBenign
Select item 1170107	NM_033453.4(ITPA):c.138G>A (p.Gln46=)	ITPA	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign
Select item 1028521	NM_033453.4(ITPA):c.66+3G>C	ITPA	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 35	GUncertain significance
Select item 973585	NM_033453.4(ITPA):c.136_138delinsTAA (p.Gln46Ter)	ITPA (Q29* +1 more)	Indel (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 35	GLikely pathogenic
Select item 946360	NM_033453.4(ITPA):c.416G>A (p.Arg139Gln)	ITPA (R98Q +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 35 +2 more	GConflicting classifications of pathogenicity
Select item 931694	NM_033453.4(ITPA):c.302A>G (p.His101Arg)	ITPA (H101R +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 35 +1 more	GUncertain significance
Select item 807614	NM_033453.4(ITPA):c.271T>C (p.Phe91Leu)	ITPA (F50L +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 35	GLikely pathogenic
Select item 804289	NM_033453.4(ITPA):c.263+583_295+1203del	ITPA	Deletion (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 35	GPathogenic
Select item 804162	NM_033453.4(ITPA):c.124+2T>C	ITPA	Single nucleotide variant (splice donor variant +1 more)	Inosine triphosphatase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 464833	NM_033453.4(ITPA):c.316G>C (p.Gly106Arg)	ITPA (G106R +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 35 +1 more	GUncertain significance
Select item 464827	NM_033453.4(ITPA):c.124C>T (p.Leu42=)	ITPA	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency +2 more	GLikely benign
Select item 445902	NM_033453.4(ITPA):c.278A>G (p.Glu93Gly)	ITPA (E93G +2 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency +3 more	GBenign/Likely benign
Select item 431714	NM_033453.4(ITPA):c.488C>T (p.Thr163Met)	ITPA (T163M +3 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency +1 more	GUncertain significance
Select item 218091	NM_033453.4(ITPA):c.359_366dup (p.Gly123fs)	ITPA (G106fs +3 more)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 35 +3 more	GPathogenic/Likely pathogenic
Select item 218090	NM_033453.4(ITPA):c.532C>T (p.Arg178Cys)	ITPA (R178C +2 more)	Single nucleotide variant (missense variant +3 more)	ITPA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 218089	NM_033453.4(ITPA):c.452G>A (p.Trp151Ter)	ITPA (W151* +3 more)	Single nucleotide variant (nonsense +3 more)	not provided +1 more	GPathogenic
Select item 218088	NM_033453.4(ITPA):c.264-607_295+1267del	ITPA	Deletion (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 35	GPathogenic
Select item 14747	NM_033453.4(ITPA):c.124+21A>C	ITPA	Single nucleotide variant (intron variant)	peginterferon alfa-2b and ribavirin response - Toxicity	Gdrug response

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 27