"Ambry Genetics"[submitter] AND "DIO1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2484051	NM_000792.7(DIO1):c.133G>T (p.Gly45Cys)	DIO1 (G45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082402	NM_000792.7(DIO1):c.136G>A (p.Glu46Lys)	DIO1 (E46K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082403	NM_000792.7(DIO1):c.143C>T (p.Thr48Met)	DIO1 (T48M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266675	NM_000792.7(DIO1):c.181T>C (p.Trp61Arg)	DIO1 (W61R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082404	NM_000792.7(DIO1):c.229G>A (p.Val77Ile)	DIO1 (V77I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408442	NM_000792.7(DIO1):c.232C>T (p.Arg78Cys)	DIO1 (R78C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3272082	NM_000792.7(DIO1):c.262C>A (p.Leu88Ile)	DIO1 (L88I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298038	NM_000792.7(DIO1):c.388A>C (p.Met130Leu)	DIO1 (M130L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2411338	NM_000792.7(DIO1):c.506T>C (p.Met169Thr)	DIO1 (M105T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3272083	NM_000792.7(DIO1):c.614G>A (p.Ser205Asn)	DIO1 (S141N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205484	NM_000792.7(DIO1):c.670A>G (p.Ile224Val)	DIO1 (I176V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344104	NM_000792.7(DIO1):c.721C>T (p.Arg241Cys)	DIO1 (R177C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance