Gene entry
EVC
EvC ciliary complex subunit 1
- Chromosome
- 4
- Cytoband
- 4p16.2
- Variants (rsID)
- 54
EVC 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 1”. The reference table lists 54 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs1383180Benignsingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome|Curry-Hall syndrome
- rs16837692Benignsingle nucleotide variantEllis-van Creveld syndrome
- rs2279247Benignsingle nucleotide variant
- rs35953626Benignsingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome|Curry-Hall syndrome
- rs151293705Conflicting interpretationssingle nucleotide variantEllis-van Creveld syndrome|Curry-Hall syndrome
- rs199916502Conflicting interpretationssingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs35401386Conflicting interpretationssingle nucleotide variantEllis-van Creveld syndrome|Curry-Hall syndrome
- rs41269549Conflicting interpretationssingle nucleotide variantEllis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs41269557Conflicting interpretationssingle nucleotide variantEllis-van Creveld syndrome|Curry-Hall syndrome|Ellis-van Creveld syndrome
- rs121908425Pathogenicsingle nucleotide variantEllis-van Creveld syndrome|Short-rib thoracic dysplasia 6 with or without polydactyly|Curry-Hall syndrome|Ellis-van Creveld syndrome
- rs794726665Pathogenicsingle nucleotide variantEllis-van Creveld syndrome|Short-rib thoracic dysplasia 6 with or without polydactyly|Ellis-van Creveld syndrome|Curry-Hall syndrome
- rs113002470Uncertain significancesingle nucleotide variantEllis-van Creveld syndrome|Curry-Hall syndrome
- rs149537641Uncertain significancesingle nucleotide variantEllis-van Creveld syndrome|Curry-Hall syndrome|Ellis-van Creveld syndrome
Other listed variants
- rs735172
- rs883994
- rs899693
- rs994812
- rs1351357
- rs1383178
- rs3774854
- rs4689304
- rs4689312
- rs6813104
- rs6813121
- rs7654977
- rs10008800
- rs10018612
- rs10020247
- rs10027753
- rs10937681
- rs11735282
- rs11939527
- rs13132305
- rs17691258
- rs17747257
- rs28667895
- rs73071992
- rs73200140
- rs73795044
- rs77297572
- rs77726796
- rs78370166
- rs79855049
- rs114027988
- rs114844852
- rs115384273
- rs116028369
- rs116231698
- rs116232230
- rs116473566
- rs116816567
- rs188839116
- rs201485591
- rs201877358
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.