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Links from MedGen

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRODH
Single nucleotide variant
(splice donor variant)
Schizophrenia 4
+2 more
GUncertain significance
PRODH
Single nucleotide variant
(intron variant)
Schizophrenia 4
+1 more
GLikely benign
PRODH
Single nucleotide variant
(synonymous variant)
Proline dehydrogenase deficiency
+1 more
GLikely benign
PRODH
Single nucleotide variant
(synonymous variant)
Proline dehydrogenase deficiency
+1 more
GLikely benign
PRODH
Single nucleotide variant
(intron variant)
Schizophrenia 4
+1 more
GBenign/Likely benign
PRODH
Single nucleotide variant
(intron variant)
Schizophrenia 4
+1 more
GBenign/Likely benign
PRODH
Single nucleotide variant
(synonymous variant)
Proline dehydrogenase deficiency
+1 more
GBenign/Likely benign
PRODH
Single nucleotide variant
(synonymous variant)
Proline dehydrogenase deficiency
+1 more
GLikely benign
PRODH
Single nucleotide variant
(synonymous variant +1 more)
Proline dehydrogenase deficiency
+1 more
GLikely benign
PRODH
Single nucleotide variant
(synonymous variant +1 more)
Proline dehydrogenase deficiency
+1 more
GLikely benign
PRODH
(K107E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Proline dehydrogenase deficiency
+1 more
GUncertain significance
PRODH
Single nucleotide variant
(splice acceptor variant)
Proline dehydrogenase deficiency
+2 more
GConflicting classifications of pathogenicity
HSERVPRODH, PRODH
(M1V)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GUncertain significance
PRODH
(E90K)
Single nucleotide variant
(missense variant +1 more)
Proline dehydrogenase deficiency
+1 more
GUncertain significance
PRODH
(Q418* +1 more)
Single nucleotide variant
(nonsense)
Schizophrenia 4
+2 more
GUncertain significance
PRODH
(R469W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PRODH
Copy number loss
Schizophrenia 4
+1 more
GLikely pathogenic
PRODH
Copy number loss
Schizophrenia 4
+1 more
GPathogenic
PRODH
(R413Q +1 more)
Single nucleotide variant
(missense variant)
Proline dehydrogenase deficiency
+1 more
GBenign
PRODH
Single nucleotide variant
(synonymous variant)
Schizophrenia 4
+1 more
GBenign/Likely benign
PRODH
Single nucleotide variant
(synonymous variant)
Schizophrenia 4
+1 more
GBenign/Likely benign
PRODH
Single nucleotide variant
(intron variant)
Schizophrenia 4
+1 more
GBenign
PRODH
Single nucleotide variant
(synonymous variant)
Proline dehydrogenase deficiency
+1 more
GBenign/Likely benign
PRODH
Single nucleotide variant
(intron variant)
Schizophrenia 4
+1 more
GBenign/Likely benign
PRODH
Single nucleotide variant
(synonymous variant)
Proline dehydrogenase deficiency
+1 more
GLikely benign
PRODH
Single nucleotide variant
(synonymous variant +1 more)
Proline dehydrogenase deficiency
+1 more
GLikely benign
PRODH
Single nucleotide variant
(synonymous variant +1 more)
Proline dehydrogenase deficiency
+1 more
GLikely benign
PRODH
(A381T +1 more)
Single nucleotide variant
(missense variant)
Proline dehydrogenase deficiency
+1 more
GLikely benign
PRODH
Single nucleotide variant
(synonymous variant +1 more)
Proline dehydrogenase deficiency
+1 more
GLikely benign
PRODH
(G193D +1 more)
Single nucleotide variant
(missense variant)
Schizophrenia 4
+2 more
GUncertain significance
PRODH
(R23Q +1 more)
Single nucleotide variant
(missense variant)
Proline dehydrogenase deficiency
+1 more
GUncertain significance
PRODH
(R480K +1 more)
Single nucleotide variant
(missense variant)
Proline dehydrogenase deficiency
+1 more
GUncertain significance
PRODH
(R483Q +1 more)
Single nucleotide variant
(missense variant)
Proline dehydrogenase deficiency
+1 more
GUncertain significance
PRODH
(R324H +1 more)
Single nucleotide variant
(missense variant)
Proline dehydrogenase deficiency
+1 more
GUncertain significance
PRODH
(A268V +1 more)
Single nucleotide variant
(missense variant)
Proline dehydrogenase deficiency
+1 more
GUncertain significance
PRODH
(E468K +1 more)
Single nucleotide variant
(missense variant)
Proline dehydrogenase deficiency
+1 more
GUncertain significance
PRODH
(T286M +1 more)
Single nucleotide variant
(missense variant)
Schizophrenia 4
+1 more
GUncertain significance
PRODH
(P406L +1 more)
Single nucleotide variant
(missense variant)
Proline dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
PRODH
(V365I +1 more)
Single nucleotide variant
(missense variant)
Schizophrenia 4
+1 more
GUncertain significance
PRODH
(R23W +1 more)
Single nucleotide variant
(missense variant)
Proline dehydrogenase deficiency
+1 more
GUncertain significance
PRODH
Deletion
(inframe_deletion +1 more)
Proline dehydrogenase deficiency
+1 more
GUncertain significance
PRODH
(W77* +1 more)
Single nucleotide variant
(nonsense)
Proline dehydrogenase deficiency
+2 more
GBenign
PRODH
Single nucleotide variant
(synonymous variant)
Proline dehydrogenase deficiency
+1 more
GBenign
PRODH
(P388L +1 more)
Single nucleotide variant
(missense variant)
Proline dehydrogenase deficiency
+1 more
GUncertain significance
PRODH
(T466M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRODH
(R431H +1 more)
Single nucleotide variant
(missense variant)
Schizophrenia 4
+1 more
GConflicting classifications of pathogenicity
PRODH
Single nucleotide variant
(no sequence alteration)
Proline dehydrogenase deficiency
GBenign
PRODH
(A455S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PRODH
(L441P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PRODH
(L289M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PRODH
(R453C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
HSERVPRODH, DGCR6
+1 more
Deletion
Proline dehydrogenase deficiency
+1 more
GPathogenic; risk factor
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