"3billion"[submitter] AND "TPO"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444201	NM_001206744.2(TPO):c.920A>C (p.Asn307Thr)	TPO (N307T)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GUncertain significance
Select item 1687271	NM_001206744.2(TPO):c.1159G>A (p.Gly387Arg)	TPO (G387R)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GLikely pathogenic
Select item 429301	NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)	TPO (A397fs)	Duplication (frameshift variant +1 more)	Deficiency of iodide peroxidase +1 more	GPathogenic/Likely pathogenic
Select item 4042	NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter)	TPO (R540* +1 more)	Single nucleotide variant (nonsense +1 more)	Deficiency of iodide peroxidase +1 more	GPathogenic
Select item 1333570	NM_001206744.2(TPO):c.1786G>T (p.Glu596Ter)	TPO (E423* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 4050	NM_001206744.2(TPO):c.2268dup (p.Glu757Ter)	TPO (E757* +2 more)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 1687484	NM_001206744.2(TPO):c.2473T>C (p.Cys825Arg)	TPO (C652R +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GLikely pathogenic
Select item 225496	NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser)	LOC126806104, TPO (P883S +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +2 more	GConflicting classifications of pathogenicity