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ClinVar for PubMed (Select 18042262)

Items: 12

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:140453152
GRCh38:
Chr7:140753352
BRAFCardio-facio-cutaneous syndromePathogenic
(Nov 6, 2013)
no assertion criteria provided
2.
GRCh37:
Chr7:140453150
GRCh38:
Chr7:140753350
BRAFCardio-facio-cutaneous syndrome, RasopathyPathogenic/Likely pathogenic
(Jun 7, 2014)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr7:140501287
GRCh38:
Chr7:140801487
BRAFCardio-facio-cutaneous syndromeLikely pathogenic
(Sep 24, 2008)
criteria provided, single submitter
4.
GRCh37:
Chr7:140501342
GRCh38:
Chr7:140801542
BRAFCardio-facio-cutaneous syndrome, RasopathyPathogenic
(Nov 19, 2014)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr7:140501351
GRCh38:
Chr7:140801551
BRAFCardio-facio-cutaneous syndrome, LEOPARD syndrome, LEOPARD syndrome 3,
Rasopathy
Pathogenic
(May 27, 2015)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr7:140453987
GRCh38:
Chr7:140754187
BRAFCardio-facio-cutaneous syndrome, RasopathyPathogenic
(Mar 20, 2014)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr7:140481402
GRCh38:
Chr7:140781602
BRAFCardio-facio-cutaneous syndrome, RasopathyPathogenic
(Oct 13, 2014)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr7:140501336
GRCh38:
Chr7:140801536
BRAFCardio-facio-cutaneous syndrome, Noonan syndrome 7, Rasopathy
Pathogenic
(Nov 6, 2014)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr15:66729175
GRCh38:
Chr15:66436837
MAP2K1Cardiofaciocutaneous syndrome 3Pathogenic/Likely pathogenic
(Nov 21, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr15:66729181
GRCh38:
Chr15:66436843
MAP2K1Rasopathy, Cardiofaciocutaneous syndrome 3Pathogenic
(Sep 15, 2014)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr19:4110557
GRCh38:
Chr19:4110559
MAP2K2Rasopathy, Cardiofaciocutaneous syndrome 4, Noonan syndrome and Noonan-related syndrome
Pathogenic/Likely pathogenic
(Apr 9, 2014)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr19:4117551
GRCh38:
Chr19:4117553
MAP2K2Cardiofaciocutaneous syndrome 4Pathogenic
(Jun 20, 2013)
no assertion criteria provided
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