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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
HERC4, HK1
+514 more
Copy number loss
See cases
GPathogenic
LOC130004125, LOC130004126
+580 more
Copy number gain
See cases
GPathogenic
ATOH7, HNRNPH3
+20 more
Copy number gain
See cases
GUncertain significance
PBLD
(G276A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(G270R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(E249Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(S242F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(T208I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(V193G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(T181M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(R164C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(D157V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(D132E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(L123F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(T100M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PBLD
(V89L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(M34V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(C24R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(R17L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBLD
(I7L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A1CF, ADO
+51 more
Copy number loss
not provided
GPathogenic
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ATOH7, HERC4
+2 more
Copy number loss
not provided
GUncertain significance
ATOH7, HERC4
+2 more
Copy number loss
not provided
GUncertain significance
ADAMTS14, ADK
+91 more
Copy number loss
not specified
GPathogenic
ATOH7, CCAR1
+24 more
Deletion
not provided
GPathogenic
MYPN, HERC4
+5 more
Copy number gain
not provided
GUncertain significance
ACTA2, ADAMTS14
+168 more
Copy number gain
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
HERC4, HNRNPH3
+14 more
Copy number loss
not provided
GLikely pathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
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