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Links from MedGen

Items: 1 to 100 of 153

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAJC5
(S161C)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Duplication
(splice donor variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
(H189Y)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GUncertain significance
DNAJC5
(L116R)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GPathogenic
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GLikely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(intron variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(intron variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GBenign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GConflicting classifications of pathogenicity
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GBenign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
(T146M)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(synonymous variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GConflicting classifications of pathogenicity
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Single nucleotide variant
(intron variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GUncertain significance
DNAJC5
Duplication
(inframe_insertion)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
GPathogenic
DNAJC5
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+3 more
GLikely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+2 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GConflicting classifications of pathogenicity
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GLikely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GConflicting classifications of pathogenicity
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GConflicting classifications of pathogenicity
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GConflicting classifications of pathogenicity
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GUncertain significance
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
+1 more
GBenign/Likely benign
DNAJC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
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