EYA3[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 57753	GRCh38/hg38 1p35.3(chr1:27952842-28193956)x3	EYA3, LOC129388479 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2458623	NM_001990.4(EYA3):c.1685T>C (p.Val562Ala)	EYA3 (V509A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214256	NM_001990.4(EYA3):c.1550G>C (p.Ser517Thr)	EYA3 (S471T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301652	NM_001990.4(EYA3):c.1373C>T (p.Ser458Phe)	EYA3 (S458F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511847	NM_001990.4(EYA3):c.1259G>A (p.Arg420Gln)	EYA3 (R367Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217478	NM_001990.4(EYA3):c.1199G>A (p.Gly400Asp)	EYA3 (G354D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686935	NM_001990.4(EYA3):c.1073A>G (p.Asn358Ser)	EYA3 (N305S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 736351	NM_001990.4(EYA3):c.994-9G>A	EYA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3276886	NM_001990.4(EYA3):c.917T>A (p.Phe306Tyr)	EYA3 (F260Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276786	NM_001990.4(EYA3):c.860G>A (p.Arg287Gln)	EYA3 (R234Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276884	NM_001990.4(EYA3):c.821C>G (p.Thr274Ser)	EYA3 (T221S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091321	NM_001990.4(EYA3):c.773A>T (p.Asp258Val)	EYA3 (D212V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476413	NM_001990.4(EYA3):c.759A>T (p.Arg253Ser)	EYA3 (R253S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458467	NM_001990.4(EYA3):c.716C>T (p.Ser239Leu)	EYA3 (S186L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091320	NM_001990.4(EYA3):c.691A>G (p.Thr231Ala)	EYA3 (T178A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276882	NM_001990.4(EYA3):c.659C>T (p.Thr220Ile)	EYA3 (T174I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276887	NM_001990.4(EYA3):c.614A>G (p.Gln205Arg)	EYA3 (Q159R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231325	NM_001990.4(EYA3):c.433C>T (p.Leu145Phe)	EYA3 (L145F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3276883	NM_001990.4(EYA3):c.379A>G (p.Met127Val)	EYA3 (M74V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091318	NM_001990.4(EYA3):c.340A>G (p.Thr114Ala)	EYA3 (T114A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593995	NM_001990.4(EYA3):c.257C>T (p.Ser86Leu)	EYA3 (S33L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312497	NM_001990.4(EYA3):c.256T>G (p.Ser86Ala)	EYA3 (S86A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024851	NM_001990.4(EYA3):c.224+8G>A	EYA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2358417	NM_001990.4(EYA3):c.112C>A (p.Pro38Thr)	EYA3 (P38T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 975789	t(1;12)(p36.1;p13.32)dn	EYA3, CRACR2A	Translocation	Short stature	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 253760	GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3	RCC1, EYA3 +12 more	Copy number gain	See cases	GUncertain significance

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Items: 34