EYA2[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2608272	NM_005244.5(EYA2):c.71G>A (p.Arg24His)	EYA2 (R24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091317	NM_005244.5(EYA2):c.98G>A (p.Ser33Asn)	EYA2 (S33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398736	NM_005244.5(EYA2):c.122C>T (p.Ser41Leu)	EYA2 (S41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333685	NM_005244.5(EYA2):c.166C>A (p.Arg56Ser)	EYA2 (R56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217031	NM_005244.5(EYA2):c.223A>G (p.Ser75Gly)	EYA2 (S75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520274	NM_005244.5(EYA2):c.262C>T (p.Pro88Ser)	EYA2 (P88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781566	NM_005244.5(EYA2):c.277G>A (p.Ala93Thr)	EYA2 (A93T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3091310	NM_005244.5(EYA2):c.435A>C (p.Gln145His)	EYA2 (Q145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605869	NM_005244.5(EYA2):c.475G>A (p.Val159Met)	EYA2 (V159M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210591	NM_005244.5(EYA2):c.524C>T (p.Pro175Leu)	EYA2 (P175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489204	NM_005244.5(EYA2):c.535G>C (p.Gly179Arg)	EYA2 (G179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652372	NM_005244.5(EYA2):c.537C>T (p.Gly179=)	EYA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091311	NM_005244.5(EYA2):c.551C>T (p.Pro184Leu)	EYA2 (P184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219730	NM_005244.5(EYA2):c.584C>T (p.Ser195Leu)	EYA2 (S195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207466	NM_005244.5(EYA2):c.607G>A (p.Val203Ile)	EYA2 (V203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091313	NM_005244.5(EYA2):c.631G>A (p.Val211Ile)	EYA2 (V211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782065	NM_005244.5(EYA2):c.712A>G (p.Thr238Ala)	EYA2 (T238A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3091314	NM_005244.5(EYA2):c.725A>G (p.His242Arg)	EYA2 (H242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981881	NM_005244.5(EYA2):c.751G>T (p.Gly251Cys)	EYA2 (G251C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2410079	NM_005244.5(EYA2):c.790G>A (p.Asp264Asn)	EYA2 (D264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091315	NM_005244.5(EYA2):c.793A>G (p.Asn265Asp)	EYA2 (N265D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367439	NM_005244.5(EYA2):c.814G>A (p.Val272Met)	EYA2 (V272M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681265	NM_005244.5(EYA2):c.853T>A (p.Leu285Ile)	EYA2 (L285I)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2268743	NM_005244.5(EYA2):c.896C>T (p.Thr299Met)	EYA2 (T299M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322308	NM_005244.5(EYA2):c.904G>A (p.Val302Met)	EYA2 (V302M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091316	NM_005244.5(EYA2):c.910A>G (p.Ile304Val)	EYA2 (I304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371016	NM_005244.5(EYA2):c.1006G>A (p.Val336Ile)	EYA2 (V336I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398390	NM_005244.5(EYA2):c.1045A>T (p.Asn349Tyr)	EYA2 (N349Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275689	NM_005244.5(EYA2):c.1100G>T (p.Gly367Val)	EYA2 (G367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368680	NM_005244.5(EYA2):c.1120G>A (p.Val374Met)	EYA2 (V374M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266235	NM_005244.5(EYA2):c.1159G>T (p.Val387Leu)	EYA2 (V387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205765	NM_005244.5(EYA2):c.1267C>T (p.Leu423Phe)	EYA2 (L423F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279982	NM_005244.5(EYA2):c.1405A>G (p.Ile469Val)	EYA2 (I469V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558005	NM_005244.5(EYA2):c.1537C>T (p.His513Tyr)	EYA2 (H513Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204462	NM_005244.5(EYA2):c.1570G>A (p.Ala524Thr)	EYA2 (A445T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340350	GRCh37/hg19 20q13.12(chr20:45626379-46257019)x3	EYA2, NCOA3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 561977	GRCh37/hg19 20q13.12(chr20:45756621-45846429)x3	ZMYND8, EYA2	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic

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Items: 44