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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAJC21
Indel
(nonsense)
Bone marrow failure syndrome 3
GPathogenic
DNAJC21
Single nucleotide variant
(splice acceptor variant)
Bone marrow failure syndrome 3
GLikely pathogenic
DNAJC21
(S335*)
Single nucleotide variant
(nonsense)
Bone marrow failure syndrome 3
GLikely pathogenic
DNAJC21
(F137S)
Single nucleotide variant
(missense variant)
Bone marrow failure syndrome 3
+1 more
GUncertain significance
DNAJC21
(E225*)
Single nucleotide variant
(nonsense)
Bone marrow failure syndrome 3
+1 more
GPathogenic
DNAJC21
(K215fs)
Indel
(frameshift variant)
Bone marrow failure syndrome 3
GPathogenic
DNAJC21
(Q50*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DNAJC21
(E428K)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
DNAJC21
(K456fs +2 more)
Deletion
(frameshift variant)
Shwachman-Diamond syndrome 1
+2 more
GUncertain significance
DNAJC21
(R339Q)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
+3 more
GUncertain significance
DNAJC21
Single nucleotide variant
(intron variant)
Bone marrow failure syndrome 3
+2 more
GConflicting classifications of pathogenicity
DNAJC21
(D320N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DNAJC21
(R339W)
Single nucleotide variant
(missense variant)
Bone marrow failure syndrome 3
GUncertain significance
DNAJC21
(G422fs +2 more)
Duplication
(frameshift variant)
Bone marrow failure syndrome 3
+1 more
GPathogenic
DNAJC21
(W155R)
Single nucleotide variant
(missense variant)
Bone marrow failure syndrome 3
GUncertain significance
DNAJC21
(R216fs)
Deletion
(frameshift variant)
Bone marrow failure syndrome 3
GPathogenic
DNAJC21
(A328fs)
Deletion
(frameshift variant)
Bone marrow failure syndrome 3
GPathogenic
DNAJC21
(V342M)
Single nucleotide variant
(missense variant)
DNAJC21-related disorder
+3 more
GConflicting classifications of pathogenicity
DNAJC21
(R274Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
DNAJC21
(K34E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic
DNAJC21
(Q174*)
Single nucleotide variant
(nonsense)
Bone marrow failure syndrome 3
GPathogenic
DNAJC21
Single nucleotide variant
(splice donor variant)
Bone marrow failure syndrome 3
GPathogenic
DNAJC21
Single nucleotide variant
(splice donor variant)
Shwachman-Diamond syndrome 1
+2 more
GConflicting classifications of pathogenicity
DNAJC21
(E265*)
Single nucleotide variant
(nonsense)
Bone marrow failure syndrome 3
+1 more
GPathogenic
DNAJC21
(R173*)
Single nucleotide variant
(nonsense)
Bone marrow failure syndrome 3
+1 more
GPathogenic
DNAJC21, LOC129993792
(P32A)
Single nucleotide variant
(missense variant)
Bone marrow failure syndrome 3
+1 more
GPathogenic
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