C1291299[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 893323	NM_001206744.2(TPO):c.208C>G (p.Pro70Ala)	TPO (P70A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 331224	NM_001206744.2(TPO):c.443C>T (p.Ala148Val)	TPO (A148V)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 894163	NM_001206744.2(TPO):c.502G>A (p.Ala168Thr)	TPO (A168T)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 331308	NM_001206744.2(TPO):c.612G>A (p.Pro204=)	TPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 4044	NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp)	TPO (Y453D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 374344	NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln)	TPO (R665Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 4050	NM_001206744.2(TPO):c.2268dup (p.Glu757Ter)	TPO (E757* +2 more)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 632332	NM_001206744.2(TPO):c.2422del (p.Cys808fs)	TPO (C635fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1254323	NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)	TPO (G687R +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GPathogenic/Likely pathogenic
Select item 331643	NM_001206744.2(TPO):c.*63dup	TPO	Duplication (3 prime UTR variant)	Congenital hypothyroidism +1 more	GUncertain significance