"Revvity Omics, Revvity"[submitter] AND "TPO"[gene] - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2437214	NM_000547.5(TPO):c.-917T>C	TPO	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 2437215	NM_001206744.2(TPO):c.218T>C (p.Leu73Pro)	TPO (L73P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 894164	NM_001206744.2(TPO):c.587T>C (p.Leu196Ser)	TPO (L196S)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GUncertain significance
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 2437213	NM_001206744.2(TPO):c.1277C>A (p.Ala426Glu)	TPO (A426E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690259	NM_001206744.2(TPO):c.1516G>A (p.Ala506Thr)	TPO (A333T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2357680	NM_001206744.2(TPO):c.1840G>A (p.Ala614Thr)	TPO (A441T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2690260	NM_001206744.2(TPO):c.2665G>A (p.Gly889Arg)	LOC126806104, TPO (G716R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance