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Items: 13

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:145736841-145736842
GRCh38:
Chr8:144511458-144511459
RECQL4Rapadilino syndromeLikely pathogenicno assertion criteria provided
2.
GRCh37:
Chr8:145737416
GRCh38:
Chr8:144512033
RECQL4Rapadilino syndromeLikely pathogenicno assertion criteria provided
3.
GRCh37:
Chr8:145737549
GRCh38:
Chr8:144512166
RECQL4Rapadilino syndromeLikely pathogenicno assertion criteria provided
4.
GRCh37:
Chr8:145737691
GRCh38:
Chr8:144512308
RECQL4Baller-Gerold syndrome, Rapadilino syndromePathogenic/Likely pathogenic
(Apr 24, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr8:145738509
GRCh38:
Chr8:144513126
RECQL4Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome
Pathogenic/Likely pathogenic
(May 22, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr8:145739064
GRCh38:
Chr8:144513680
RECQL4Rapadilino syndromeLikely pathogenicno assertion criteria provided
7.
GRCh37:
Chr8:145739097
GRCh38:
Chr8:144513713
RECQL4Rapadilino syndromeLikely pathogenicno assertion criteria provided
8.
GRCh37:
Chr8:145739460
GRCh38:
Chr8:144514076
RECQL4Rapadilino syndromeLikely pathogenicno assertion criteria provided
9.
GRCh37:
Chr8:145739480-145739483
GRCh38:
Chr8:144514096-144514099
RECQL4Rapadilino syndromeLikely pathogenicno assertion criteria provided
10.
GRCh37:
Chr8:145739482-145739485
GRCh38:
Chr8:144514098-144514101
RECQL4Rapadilino syndromeLikely pathogenicno assertion criteria provided
11.
GRCh37:
Chr8:145740367
GRCh38:
Chr8:144514983
RECQL4Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome
Pathogenic/Likely pathogenic
(Feb 23, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr8:145740620
GRCh38:
Chr8:144515236
RECQL4Baller-Gerold syndrome, Rapadilino syndrome, not specified,
not provided
Conflicting interpretations of pathogenicity
(Dec 16, 2016)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr8:145740708
GRCh38:
Chr8:144515324
RECQL4Rapadilino syndromePathogenicno assertion criteria provided
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