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Genes and Genomic Entities
missense
54 genes and genomic entities tagged
“missense”
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Gene or Genomic Entity Name
Enter a gene symbol, STR name, Region name, or the beginning of one, eg “CD” or “CD19”
54 genes and genomic entities
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Genes
STRS
Regions
ABCB7
ABL1
ACTB
ACTG1
AFF3
AKT2
ALAS2
AP2M1
AP4M1
APOC2
C15orf41
CACNA1G
CHD1L
COPA
CTBP1
DNM2
DSE
EIF2AK2
ELOVL1
GABBR2
GABRA2
GABRA5
HK1
HRG
IFIH1
KAT8
KBTBD13
KCNH2
LRRK2
MARS2
MTOR
NACC1
NKAP
ORAI1
OTX2
PAK1
PIGU
RAD21
RELN
RLIM
SAMD9
STIM1
SYT2
TBL1X
TBL1XR1
TERT
TLR3
TMEM106B
TRAF7
TRPM3
VPS35
VPS45
WDR37
ZSWIM6
Tagged
adult-onset
adverse-drug-reaction
age-specific-variation
anticipation
Autism Spectrum Disorder
CBLIF
CFAP298
CFAP300
chimeric-gene
clinical_reviewed
cnv
curated_removed
curated-variant-list
currently-ngs-unreportable
CYBC1
deletions
de novo
DIFF
differe
different_gene_name
digenic
discretionary
disputed
DNAAF11
DNAAF6
dominant-negative
drug-contraindication
drug-dosing
drug-efficacy
drug-indication
drug-toxicity
early-onset
ensembl_ids_known_missing
epigenetics
for-review
founder-effect
G6PC1
GBA1
gene-checked
gene_duplication
gene-duplication
gene-therapy-trial
GOF
GOF/LOF
HJV
IARS1
internal_inclusion_list_only
LARS1
limit of detection for heteroplasmic variants is not validated for WGS testing
locus-type-phenotype-only
locus-type-pseudogene
locus-type-rna-long-non-coding
locus-type-rna-micro
locus-type-rna-misc
locus-type-rna-ribosomal
locus-type-rna-small-nuclear
locus-type-rna-transfer
locus-type-rna-vault
locus-type-small-nucleolar
locus-type-unknown
LOF/dominant-negative
MARS1
microdeletion
microduplication
missense
MMUT
monogenic - polygenic
monogenic-polygenic
mosaicism
multifactorial
new-
new-gene-name
ngs-false-positive-region
NGS Not Validated
non-coding-known-pathogenic
nucleotide-repeat-expansion
ODAD1
ODAD2
ODAD3
ODAD4
pathogenic-synonymous
pharmacogenetics
polygenic
prognosis
promoter
Pseudoautosomal region 1
Pseudoautosomal region 2
Q1_22_expert_review
Q1_22_MOI
Q1_22_NHS_review
Q1_22_phenotype
Q1_22_rating
Q1_234
Q1_23_demote_amber
Q1_23_demote_grey
Q1_23_demote_red
Q1_23_expert_review
Q1_23_MOI
Q1_23_MOP_not_LOF
Q1_23_MOP_other
Q1_23_NHS_review
Q1_23_promote_green
Q1_24_demote_amber
Q1_24_demote_red
Q1_24_expert_review
Q1_24_MOI
Q1_24_NHS_review
Q1_24_phenotype
Q1_24_promote_green
Q2_21_expert_review
Q2_21_MOI
Q2_21_NHS_review
Q2_21_phenotype
Q2_21_rating
Q2_22_expert_review
Q2_22_MOI
Q2_22_NHS_review
Q2_22_phenotype
Q2_22_rating
Q2_23_demote_amber
Q2_23_demote_grey
Q2_23_demote_red
Q2_23_expert_review
Q2_23_MOI
Q2_23_NHS_review
Q2_23_promote_green
Q2_24_demote_amber
Q2_24_demote_red
Q2_24_expert_review
Q2_24_MOI
Q2_24_NHS_review
Q2_24_promote_green
Q3_21_expert_review
Q3_21_MOI
Q3_21_NHS_review
Q3_21_phenotype
Q3_21_rating
Q3_22_expert_review
Q3_22_MOI
Q3_22_NHS_review
Q3_22_phenotype
Q3_22_rating
Q3_23_demote_amber
Q3_23_demote_red
Q3_23_expert_review
Q3_23_MOI
Q3_23_NHS_review
Q3_23_phenotype
Q3_23_promote_green
Q4_21_expert_review
Q4_21_MOI
Q4_21_NHS_review
Q4_21_phenotype
Q4_21_rating
Q4_22_demote_amber
Q4_22_demote_grey
Q4_22_demote_red
Q4_22_expert_review
Q4_22_MOI
Q4_22_MOP_not_LOF
Q4_22_MOP_other
Q4_22_NHS_review
Q4_22_promote_green
Q4_23_demote_amber
Q4_23_demote_red
Q4_23_expert_review
Q4_23_MOI
Q4_23_NHS_review
Q4_23_promote_green
Q4_24_expert_review
recurrent-variant
refuted
regulatory-region
removed
SARS1
Schizophrenia
single-deletion
Skewed X-inactivation
SKIC2
SKIC3
somatic
special_caller_only
STR
stratified-medicine
structural-variant
sva
TAFAZZIN
to_be_confirmed_NHSE
treatable
trinucleotide-repeat-expansion
watchlist
watchlist_moi
x-linked-over-dominance
y-chromosome