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Items: 12

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:124794776
GRCh38:
Chr11:124924880
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts 2aPathogenic
(Nov 3, 2011)
no assertion criteria provided
2.
GRCh37:
Chr11:124794777
GRCh38:
Chr11:124924881
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts 2a, Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardationPathogenic
(Nov 3, 2011)
no assertion criteria provided
3.
GRCh37:
Chr11:124794786
GRCh38:
Chr11:124924890
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts 2a, Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardationPathogenic
(Nov 3, 2011)
no assertion criteria provided
4.
GRCh37:
Chr22:50502491
GRCh38:
Chr22:50064062
MLC1Megalencephalic leukoencephalopathy with subcortical cysts 1, not specifiedGO-ESP:0.10658(C)
GMAF:0.13120(C)
Benign/Likely benign
(Nov 3, 2011)
no assertion criteria provided
5.
GRCh37:
Chr22:50502597
GRCh38:
Chr22:50064168
MLC1Megalencephalic leukoencephalopathy with subcortical cysts 1Benign
(Nov 3, 2011)
no assertion criteria provided
6.
GRCh37:
Chr22:50512705
GRCh38:
Chr22:50074276
MLC1Megalencephalic leukoencephalopathy with subcortical cysts 1GO-ESP:0.00315(T)
GMAF:0.00220(T)
Benign/Likely benign
(Apr 16, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr22:50515843
GRCh38:
Chr22:50077414
MLC1Megalencephalic leukoencephalopathy with subcortical cysts 1, not specifiedGO-ESP:0.10234(A)
GMAF:0.12160(A)
Benign/Likely benign
(Nov 3, 2011)
no assertion criteria provided
8.
GRCh37:
Chr22:50518239-50518796
GRCh38:
Chr22:50079810-50080367
MLC1Megalencephalic leukoencephalopathy with subcortical cysts 1Pathogenic
(Nov 3, 2011)
no assertion criteria provided
9.
GRCh37:
Chr22:50518816
GRCh38:
Chr22:50080387
MLC1Megalencephalic leukoencephalopathy with subcortical cysts 1Pathogenic
(Nov 3, 2011)
no assertion criteria provided
10.
GRCh37:
Chr22:50521612
GRCh38:
Chr22:50083183
MLC1Megalencephalic leukoencephalopathy with subcortical cysts 1Pathogenic
(Nov 3, 2011)
no assertion criteria provided
11.
GRCh37:
Chr22:50523156
GRCh38:
Chr22:50084727
MLC1Megalencephalic leukoencephalopathy with subcortical cysts 1Pathogenic
(Nov 3, 2011)
no assertion criteria provided
12.
GRCh37:
Chr22:50523197
GRCh38:
Chr22:50084768
MLC1Megalencephalic leukoencephalopathy with subcortical cysts 1Pathogenic
(Nov 3, 2011)
no assertion criteria provided
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