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Items: 1 to 100 of 386

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS12, ADAMTS16
+697 more
Copy number loss
See cases
GPathogenic
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+953 more
Copy number gain
See cases
GPathogenic
LINC02116, LINC02120
+696 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+530 more
Copy number gain
See cases
GPathogenic
AGXT2, LOC121725200
+385 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS12, AGXT2
+116 more
Copy number loss
See cases
GPathogenic
ADAMTS12, AGXT2
+128 more
Copy number loss
See cases
GLikely pathogenic
DNAJC21, LOC129993790
Deletion
(5 prime UTR variant)
not provided
GUncertain significance
DNAJC21
Single nucleotide variant
(5 prime UTR variant)
DNAJC21-related condition
GLikely benign
DNAJC21, LOC129993792
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21, LOC129993792
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21, LOC129993792
(Y5D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21, LOC129993792
(Y5*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DNAJC21, LOC129993792
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21, LOC129993792
(L8R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21, LOC129993792
(G9R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21, LOC129993792
(V10L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21, LOC129993792
(R11L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAJC21, LOC129993792
(R11P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21, LOC129993792
(R12Q)
Indel
(missense variant)
not provided
GUncertain significance
DNAJC21, LOC129993792
(S15R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21, LOC129993792
(E17V)
Single nucleotide variant
(missense variant)
DNAJC21-related condition
+1 more
GUncertain significance
DNAJC21, LOC129993792
(E17G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DNAJC21, LOC129993792
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21, LOC129993792
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21, LOC129993792
(P32A)
Single nucleotide variant
(missense variant)
Bone marrow failure syndrome 3
+1 more
GPathogenic
DNAJC21, LOC129993792
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DNAJC21, LOC129993792
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
DNAJC21, LOC129993792
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
DNAJC21, LOC129993792
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DNAJC21, LOC129993792
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
DNAJC21, LOC129993792
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21, LOC129993792
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAJC21, LOC129993792
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21, LOC129993792
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21, LOC129993792
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21, LOC129993792
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
(K34E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic
DNAJC21
(K34R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21
(A40T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
(Q50*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DNAJC21
(P59S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
DNAJC21-related condition
+2 more
GConflicting classifications of pathogenicity
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DNAJC21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21
(H68R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAJC21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21
(L72V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
Single nucleotide variant
(synonymous variant)
DNAJC21-related condition
+1 more
GBenign/Likely benign
DNAJC21
(F77S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
(E80K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
(D83Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
(S85G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAJC21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21
(R90C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21
(Y91H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DNAJC21
(V94I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
(V94F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
(Y97F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAJC21
(Y97S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
(K105fs)
Deletion
(frameshift variant)
not provided
GPathogenic
DNAJC21
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC21
Duplication
(intron variant)
DNAJC21-related condition
+1 more
GBenign/Likely benign
DNAJC21
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJC21
Single nucleotide variant
(splice acceptor variant)
Bone marrow failure syndrome 3
GLikely pathogenic
DNAJC21
(T109M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAJC21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAJC21
(Y111C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
(R112C)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAJC21
(R112H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
(N113Y)
Single nucleotide variant
(missense variant)
DNAJC21-related condition
+2 more
GConflicting classifications of pathogenicity
DNAJC21
(V114fs)
Deletion
(frameshift variant)
not provided
GPathogenic
DNAJC21
(F115fs)
Deletion
(frameshift variant)
not provided
GPathogenic
DNAJC21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC21
(I118V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
(E124Q)
Single nucleotide variant
(missense variant)
DNAJC21-related condition
+3 more
GConflicting classifications of pathogenicity
DNAJC21
(V126A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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