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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC105378448, LOC107195252
+245 more
Copy number loss
See cases
GPathogenic
LOC130004555, LOC130004556
+375 more
Copy number loss
See cases
GPathogenic
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
ARHGAP19, ARHGAP19-SLIT1
(T474M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(A389T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(K416E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(R407L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(Q399E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(I384T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(V351I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(T369M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(T336A +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(R326W +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(A329S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(H292Y +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ARHGAP19, ARHGAP19-SLIT1
(L291F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(R319I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(F308L +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(R231H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(R214W +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(K221E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(H194Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(M182I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(L158F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(S139G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(I129T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(S115F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(R106Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(G81V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(L70P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(N55S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(K48T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(S16C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(E10A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP19, ARHGAP19-SLIT1
(E10Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ABCC2, ACSM6
+74 more
Copy number loss
not specified
GPathogenic
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
ACSM6, ALDH18A1
+83 more
Copy number loss
not specified
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
ARHGAP19, EXOSC1
+7 more
Copy number loss
not provided
GUncertain significance
ARHGAP19, SLIT1
Copy number gain
not provided
GUncertain significance
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
ABCC2, ACSM6
+76 more
Copy number loss
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
CYP17A1, KLLN
+206 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
FRAT1, FRAT2
+3 more
Copy number gain
See cases
GUncertain significance
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