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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+297 more
Copy number gain
See cases
GPathogenic
LOC129931527, LOC129931528
+91 more
Copy number loss
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+67 more
Copy number gain
See cases
GUncertain significance
ASH1L, ASH1L-AS1
+45 more
Copy number gain
See cases
GUncertain significance
ENTREP3
(G565R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(R635C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(R550C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(G631R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(C612F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(G587R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(R494H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(D559N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(R554Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(P445T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(P477S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(P472L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(S464I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(S368G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(R443C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(V425F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(W431C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(C404G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(R375Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(E387K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(G381S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(R275P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(V266I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(S232A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(E218Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(P248L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(P212L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(P132L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(T206K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(L122R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(R116Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(V186M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(V109L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(D203A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(Q153E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ENTREP3
(C117G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ENTREP3
(Q128H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ENTREP3
(D125A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ENTREP3
(V49I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(T36M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(L31V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(R25H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTREP3
(S6T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP6, ADAM15
+263 more
Copy number gain
not specified
GPathogenic
ADAM15, ADAR
+85 more
Copy number loss
not specified
GPathogenic
ACP6, ADAM15
+315 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+293 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
ADAM15, ADAR
+90 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
CRTC2, KHDC4
+228 more
Duplication
MHC class II deficiency
+3 more
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
EFNA4, ENTREP3
+23 more
Copy number gain
not provided
GUncertain significance
BGLAP, C1orf43
+90 more
Inversion
Pediatric metastatic thyroid tumour
GLikely pathogenic
ADAR, PYGO2
+91 more
Copy number gain
not provided
GLikely pathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
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