EPHA2-AS1[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	AADACL3, AADACL4 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	ACTL8, AKR7A2 +206 more	Copy number loss	See cases	GPathogenic
Select item 643721	NC_000001.10:g.(?_16460943)_(16482447_?)dup	EPHA2, EPHA2-AS1	Duplication	Cataract 6 multiple types	GUncertain significance
Select item 1216566	NM_004431.5(EPHA2):c.85+173G>C	EPHA2, EPHA2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 634591	NM_004431.5(EPHA2):c.77G>T (p.Gly26Val)	EPHA2, EPHA2-AS1 (G26V)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 6 multiple types	GUncertain significance
Select item 1341682	NM_004431.5(EPHA2):c.41G>A (p.Trp14Ter)	EPHA2, EPHA2-AS1 (W14*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract +2 more	GPathogenic
Select item 2224375	NM_004431.5(EPHA2):c.40T>G (p.Trp14Gly)	EPHA2, EPHA2-AS1 (W14G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514578	NM_004431.5(EPHA2):c.7C>T (p.Leu3Phe)	EPHA2, EPHA2-AS1 (L3F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 293451	NM_004431.5(EPHA2):c.-81G>T	EPHA2, EPHA2-AS1	Single nucleotide variant (5 prime UTR variant)	Cataract 6 multiple types	GUncertain significance
Select item 293452	NM_004431.4(EPHA2):c.-152T>C	EPHA2, EPHA2-AS1	Single nucleotide variant	Age-related cortical cataract	GUncertain significance

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Items: 20