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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAJC12
(K137fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DNAJC12
(W103C)
Single nucleotide variant
(missense variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
(W175*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic
DNAJC12
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
DNAJC12
Single nucleotide variant
(splice acceptor variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
(H42Y)
Single nucleotide variant
(missense variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GUncertain significance
DNAJC12
Single nucleotide variant
(splice acceptor variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
(K63*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DNAJC12
(R72*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DNAJC12
Single nucleotide variant
(stop lost)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
(Q29fs)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
DNAJC12
(G20fs)
Deletion
(frameshift variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
Single nucleotide variant
(splice acceptor variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
(R72P)
Single nucleotide variant
(missense variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
Deletion
(splice acceptor variant +1 more)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
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