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Items: 8

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:18905859
GRCh38:
Chr22:18918346
PRODHProline dehydrogenase deficiency, Schizophrenia 4GO-ESP:0.00261(A)
GO-ESP:0.00566(A)
risk factor
(Oct 1, 2007)
no assertion criteria provided
2.
GRCh37:
Chr22:18901005
GRCh38:
Chr22:18913492
PRODHProline dehydrogenase deficiencyPathogenic
(Mar 1, 2005)
no assertion criteria provided
3.
GRCh37:
Chr22:18905964
GRCh38:
Chr22:18918451
PRODHProline dehydrogenase deficiency, Schizophrenia 4GO-ESP:0.08159(T)
GMAF:0.04290(T)
GO-ESP:0.07940(T)
Pathogenic, risk factor
(Mar 1, 2005)
no assertion criteria provided
4.
GRCh37:
Chr22:18901004
GRCh38:
Chr22:18913491
PRODHProline dehydrogenase deficiency, Schizophrenia 4, not provided
GMAF:0.09450(C)
GO-ESP:0.08291(C)
Pathogenic, risk factor
(Mar 1, 2005)
no assertion criteria provided
5.
GRCh37:
Chr22:18905893
GRCh38:
Chr22:18918380
PRODHProline dehydrogenase deficiency, Schizophrenia 4GO-ESP:0.00046(A)
GO-ESP:0.00128(A)
Pathogenic, risk factor
(Mar 1, 2005)
no assertion criteria provided
6.
GRCh37:
Chr22:18905934
GRCh38:
Chr22:18918421
PRODHProline dehydrogenase deficiency, Schizophrenia 4, not provided
GO-ESP:0.00584(G)
GMAF:0.00660(G)
GO-ESP:0.00576(G)
Pathogenic/Likely pathogenic, risk factor
(Jul 31, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr22:18909902
GRCh38:
Chr22:18922389
PRODHProline dehydrogenase deficiency, Schizophrenia 4GO-ESP:0.00461(T)
GMAF:0.00320(T)
GO-ESP:0.00419(T)
Pathogenic, risk factor
(Mar 1, 2005)
no assertion criteria provided
8.
GRCh37:
Chr22:18905899
GRCh38:
Chr22:18918386
PRODHProline dehydrogenase deficiency, Schizophrenia 4GO-ESP:0.00915(A)
GMAF:0.02280(A)
GO-ESP:0.01221(A)
Pathogenic, risk factor
(Mar 1, 2005)
no assertion criteria provided
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