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Links from MedGen

Items: 10

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:42290198
GRCh38:
Chr17:44212830
ATXN7L3-AS1, UBTFV217MChildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderUncertain significance
(Nov 25, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr17:42284614
GRCh38:
Chr17:44207246
ATXN7L3-AS1, UBTFN727T, N764TChildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderUncertain significance
(Oct 7, 2020)
criteria provided, single submitter
3.
GRCh37:
Chr17:42288411
GRCh38:
Chr17:44211043
ATXN7L3-AS1, LOC121587595, UBTFG363V, G400VChildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderUncertain significance
(Mar 4, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr17:42293054
GRCh38:
Chr17:44215686
ATXN7L3-AS1, UBTFK148EChildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr17:42284946-42284948
GRCh38:
Chr17:44207578-44207580
ATXN7L3-AS1, UBTFD644del, D681delChildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr17:42289354-42289361
GRCh38:
Chr17:44211986-44211993
ATXN7L3-AS1, UBTFD225fs, D262fsChildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderUncertain significance
(May 15, 2020)
criteria provided, single submitter
7.
GRCh37:
Chr17:42293093
GRCh38:
Chr17:44215725
ATXN7L3-AS1, UBTFP135SChildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderUncertain significance
(Aug 15, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr17:42286754
GRCh38:
Chr17:44209386
ATXN7L3-AS1, UBTFK587R, K624RChildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderUncertain significance
(Jan 1, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr17:42284692
GRCh38:
Chr17:44207324
ATXN7L3-AS1, UBTFD701G, D738GChildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderUncertain significance
(May 9, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr17:42290219
GRCh38:
Chr17:44212851
ATXN7L3-AS1, UBTFE210KRare syndromic intellectual disability, Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability, Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,
UBTF E210K Neuroregression Syndrome, Inborn genetic diseases, not provided,
See cases
Pathogenic/Likely pathogenic
(Jun 8, 2023)
criteria provided, multiple submitters, no conflicts
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