Gene entry
EVC2
EvC ciliary complex subunit 2
- Chromosome
- 4
- Cytoband
- 4p16.2
- Variants (rsID)
- 66
EVC2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4p16.2). Its official name is “EvC ciliary complex subunit 2”. The reference table lists 66 variants (rsID) for this gene.
Clinically classified variants
20 reference-table entries with clinical significance.
- rs112747818Benignsingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs112863054Benignsingle nucleotide variant
- rs113869406Benignsingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs114764023Benignsingle nucleotide variantCurry-Hall syndrome|Ellis-van Creveld syndrome|Ellis-van Creveld syndrome
- rs116514447Benignsingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs144730069Benignsingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs149188988Benignsingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs150842594Benignsingle nucleotide variantEllis-van Creveld syndrome|Curry-Hall syndrome|Ellis-van Creveld syndrome
- rs17687543Benignsingle nucleotide variant
- rs186058156Benignsingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs186197620Benignsingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs4689278Benignsingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome|Curry-Hall syndrome
- rs74930168Benignsingle nucleotide variantEllis-van Creveld syndrome|Curry-Hall syndrome|Ellis-van Creveld syndrome
- rs75829835Benignsingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs7670299Benignsingle nucleotide variant
- rs141287105Conflicting interpretationssingle nucleotide variantEllis-van Creveld syndrome|Curry-Hall syndrome|Ellis-van Creveld syndrome
- rs146588335Conflicting interpretationssingle nucleotide variantCurry-Hall syndrome|Ellis-van Creveld syndrome
- rs201651890Conflicting interpretationssingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs137852928Uncertain significancesingle nucleotide variantEllis-van Creveld syndrome|Curry-Hall syndrome|Ellis-van Creveld syndrome
- rs180747811Uncertain significancesingle nucleotide variantJeune thoracic dystrophy
Other listed variants
- rs1078758
- rs4353849
- rs4577515
- rs4689276
- rs6446387
- rs6446391
- rs6831397
- rs6852113
- rs7659096
- rs7684204
- rs7684327
- rs10024750
- rs10025465
- rs10804964
- rs11735503
- rs11947637
- rs12503515
- rs13109991
- rs13126806
- rs13146518
- rs16837573
- rs34170652
- rs55801084
- rs59092055
- rs62297460
- rs73198121
- rs73198191
- rs75453203
- rs75611659
- rs76732144
- rs78040456
- rs113153867
- rs114367695
- rs115037074
- rs115593883
- rs116502852
- rs116561445
- rs117529963
- rs118187927
- rs145909403
- rs148035363
- rs150863829
- rs182888222
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.