ClinVar for Gene (Select 1734) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148944	GRCh37/hg19 14q24.3-31.3(chr14:79068206-87464634)x1	CEP128, DIO2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 3082406	NM_013989.5(DIO2):c.763C>T (p.Arg255Trp)	DIO2 (R255W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082405	NM_013989.5(DIO2):c.446A>C (p.Glu149Ala)	DIO2 (E149A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063337	GRCh37/hg19 14q31.1-31.3(chr14:79782316-86358101)x3	CEP128, DIO2 +5 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684740	GRCh37/hg19 14q31.1(chr14:79888388-80740024)x3	DIO2	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2573330	NM_013989.5(DIO2):c.*1453C>T	DIO2	Single nucleotide variant (3 prime UTR variant +1 more)	Levothyroxine response	Gother
Select item 2573329	NM_013989.5(DIO2):c.274A>G (p.Thr92Ala)	DIO2 (T92A)	Single nucleotide variant (missense variant +1 more)	Levothyroxine response	Gother
Select item 2537362	NM_013989.5(DIO2):c.617C>T (p.Pro206Leu)	DIO2 (P206L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489965	NM_013989.5(DIO2):c.805A>G (p.Thr269Ala)	DIO2 (T269A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2297376	NM_013989.5(DIO2):c.187G>A (p.Val63Ile)	DIO2 (V63I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2274947	NM_013989.5(DIO2):c.619C>G (p.Gln207Glu)	DIO2 (Q207E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226985	NM_013989.5(DIO2):c.817G>T (p.Gly273Cys)	DIO2 (G273C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1808664	GRCh37/hg19 14q31.1(chr14:80523257-80956658)x1	DIO2	Copy number loss	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 787950	NM_013989.5(DIO2):c.267C>G (p.Val89=)	DIO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 149273	GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3	CEP128, DIO2 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 147682	GRCh38/hg38 14q31.1(chr14:80208612-80270377)x1	DIO2, DIO2-AS1	Copy number loss	See cases	GBenign
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28