"Clinical Genetics, Academic Medical Center"[submitter] AND "TPO"[gene - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256607	NM_001206744.2(TPO):c.12C>G (p.Leu4=)	TPO	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 331219	NM_001206744.2(TPO):c.30G>A (p.Thr10=)	TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase +2 more	GConflicting classifications of pathogenicity
Select item 256616	NM_001206744.2(TPO):c.769G>T (p.Ala257Ser)	TPO (A257S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 256605	NM_001206744.2(TPO):c.1117G>T (p.Ala373Ser)	TPO (A373S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 429301	NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)	TPO (A397fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 256606	NM_001206744.2(TPO):c.1193G>C (p.Ser398Thr)	TPO (S398T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 4044	NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp)	TPO (Y453D +1 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GPathogenic
Select item 256608	NM_001206744.2(TPO):c.1998C>T (p.Asp666=)	TPO	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 256610	NM_001206744.2(TPO):c.2145C>T (p.Pro715=)	TPO	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 256611	NM_001206744.2(TPO):c.2173A>C (p.Thr725Pro)	TPO (T725P +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 632332	NM_001206744.2(TPO):c.2422del (p.Cys808fs)	TPO (C635fs +2 more)	Deletion (frameshift variant +1 more)	Deficiency of iodide peroxidase +1 more	GPathogenic
Select item 256614	NM_001206744.2(TPO):c.2540T>C (p.Val847Ala)	TPO (V847A +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 331641	NM_001206744.2(TPO):c.2749-4G>A	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity