"OMIM"[submitter] AND "PAX8"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13782	NM_003466.4(PAX8):c.985T>C (p.Phe329Leu)	PAX8 (F329L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 13783	NM_003466.4(PAX8):c.322C>T (p.Arg108Ter)	PAX8, PAX8-AS1 (R108*)	Single nucleotide variant (nonsense)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 13785	NM_003466.4(PAX8):c.185T>G (p.Leu62Arg)	PAX8, PAX8-AS1 (L62R)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 13786	NM_003466.4(PAX8):c.170G>A (p.Cys57Tyr)	PAX8, PAX8-AS1 (C57Y)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 13787	NM_003466.4(PAX8):c.160A>G (p.Ser54Gly)	PAX8, PAX8-AS1 (S54G)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 13789	NM_003466.4(PAX8):c.143C>T (p.Ser48Phe)	PAX8, PAX8-AS1 (S48F)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 13788	NM_003466.4(PAX8):c.119A>C (p.Gln40Pro)	PAX8, PAX8-AS1 (Q40P)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic
Select item 13784	NM_003466.4(PAX8):c.92G>A (p.Arg31His)	PAX8, PAX8-AS1 (R31H)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 2	GPathogenic