DIO1[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 153752	GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	CDCP2, CYB5RL +27 more	Copy number gain	See cases	GUncertain significance
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 1686838	NM_000792.7(DIO1):c.282C>A (p.Asn94Lys)	DIO1	Single nucleotide variant (missense variant +2 more)	Thyroid hormone metabolism, abnormal, 2	GPathogenic
Select item 708355	NM_000792.7(DIO1):c.288G>A (p.Pro96=)	DIO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 1686839	NM_000792.7(DIO1):c.603G>A (p.Met201Ile)	DIO1 (M137I +1 more)	Single nucleotide variant (missense variant +2 more)	Thyroid hormone metabolism, abnormal, 2	GPathogenic
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 2573328	NM_000792.7(DIO1):c.682-34C>A	DIO1	Single nucleotide variant (intron variant)	Levothyroxine response	Gdrug response
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
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 685398	GRCh37/hg19 1p32.3(chr1:54002963-54575440)x3	DIO1, GLIS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 28