"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ITPA"[gene - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 464837	NM_033453.4(ITPA):c.96A>G (p.Pro32=)	ITPA	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GLikely benign
Select item 464827	NM_033453.4(ITPA):c.124C>T (p.Leu42=)	ITPA	Single nucleotide variant (5 prime UTR variant +3 more)	Developmental and epileptic encephalopathy, 35 +2 more	GLikely benign
Select item 464829	NM_033453.4(ITPA):c.233A>G (p.Asn78Ser)	ITPA (N78S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 218091	NM_033453.4(ITPA):c.359_366dup (p.Gly123fs)	ITPA (G106fs +3 more)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1335456	NM_033453.4(ITPA):c.371A>G (p.Asp124Gly)	ITPA (D107G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652168	NM_033453.4(ITPA):c.489G>T (p.Thr163=)	ITPA (R179L +1 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1561210	NM_033453.4(ITPA):c.534C>A (p.Arg178=)	ITPA (A66D)	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 789522	NM_033453.4(ITPA):c.540G>A (p.Arg180=)	ITPA (G68E)	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency +1 more	GBenign/Likely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +114 more	Copy number gain	not provided	GPathogenic