ClinVar for MedGen (Select 87429) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577213	NM_203395.3(IYD):c.835C>T (p.Arg279Cys)	IYD (R197C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Iodotyrosine deiodination defect	GPathogenic
Select item 355674	NM_203395.3(IYD):c.323A>G (p.Asn108Ser)	IYD (N108S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 257584	NM_203395.3(IYD):c.687+1305T>C	IYD (C265R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 740	NM_203395.3(IYD):c.658G>A (p.Ala220Thr)	IYD (A220T +1 more)	Single nucleotide variant (missense variant +1 more)	Iodotyrosine deiodination defect	GLikely pathogenic
Select item 739	NM_203395.3(IYD):c.347T>C (p.Ile116Thr)	IYD (I116T)	Single nucleotide variant (missense variant +2 more)	Iodotyrosine deiodination defect	GLikely pathogenic
Select item 738	NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu)	IYD	Deletion (inframe_indel +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 737	NM_203395.3(IYD):c.301C>T (p.Arg101Trp)	IYD (R101W)	Single nucleotide variant (missense variant +2 more)	IYD-related disorder +1 more	GLikely pathogenic

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