"PreventionGenetics, part of Exact Sciences"[submitter] AND "IYD"[gene - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 709827	NM_203395.3(IYD):c.69C>G (p.Ala23=)	IYD	Single nucleotide variant (synonymous variant +2 more)	IYD-related disorder +1 more	GLikely benign
Select item 799120	NM_203395.3(IYD):c.286C>T (p.Leu96Phe)	IYD (L96F)	Single nucleotide variant (missense variant +2 more)	IYD-related disorder +1 more	GLikely benign
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
Select item 738	NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu)	IYD	Deletion (inframe_indel +2 more)	Iodotyrosine deiodination defect +2 more	GConflicting classifications of pathogenicity
Select item 745865	NM_203395.3(IYD):c.537C>A (p.Asn179Lys)	IYD (N97K +1 more)	Single nucleotide variant (missense variant +1 more)	IYD-related disorder +1 more	GLikely benign
Select item 435539	NM_203395.3(IYD):c.604G>A (p.Ala202Thr)	IYD (A202T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3042692	NM_203395.3(IYD):c.687+1260C>T	IYD (P250S)	Single nucleotide variant (missense variant +2 more)	IYD-related disorder	GLikely benign
Select item 3054595	NM_203395.3(IYD):c.687+1275G>A	IYD (E255K)	Single nucleotide variant (missense variant +2 more)	IYD-related disorder	GLikely benign
Select item 3043698	NM_203395.3(IYD):c.687+1282G>A	IYD (C257Y)	Single nucleotide variant (missense variant +2 more)	IYD-related disorder	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 716354	NM_203395.3(IYD):c.737G>A (p.Arg246Gln)	IYD (R246Q +1 more)	Single nucleotide variant (synonymous variant +3 more)	IYD-related disorder +1 more	GBenign
Select item 1266484	NM_203395.3(IYD):c.*7C>T	IYD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign