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Links from Gene

Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WAPL
(K185R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(V605M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(K918T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(C1001F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(I1154V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(D332G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(S329L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(S319I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(E170Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(I1009T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(I1015V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(S1002W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(N998S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(V916L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(S81Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(I611L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(Q590K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(N507D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(K474Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(H434N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(V424F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTA2, ADIRF
+46 more
Copy number loss
not specified
GPathogenic
BMPR1A, GRID1
+4 more
Copy number gain
not provided
GUncertain significance
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
WAPL
(S501R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADIRF, ADIRF-AS1
+33 more
Copy number gain
See cases
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
WAPL
(R668C +1 more)
Single nucleotide variant
(missense variant)
Polyhydramnios
+5 more
GUncertain significance
WAPL
(P486L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(A337T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(I605V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(D516H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(E137K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(G1021D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(V23I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(V129L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(T210S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(G317S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(P491T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(D1015N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(I528V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(L721fs +1 more)
Microsatellite
(frameshift variant)
not specified
GUncertain significance
WAPL
(I204V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(V284I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(R247T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(R900H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(T480N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(I55V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(K843N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(V424I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(F384L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(R1039W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(P415L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(T480A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(V1115A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(D1054E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(N179S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(E328K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(R379H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WAPL
(M1005V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTA2, ADIRF
+56 more
Copy number loss
not provided
GPathogenic
ACTA2, ADIRF
+50 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+32 more
Copy number loss
Chromosome 10q23 deletion syndrome
GPathogenic
ADIRF, ADIRF-AS1
+19 more
Copy number loss
not provided
GPathogenic
BMPR1A, CCSER2
+33 more
Deletion
not provided
GPathogenic
BMPR1A, GRID1
+4 more
Copy number gain
not provided
GUncertain significance
DYDC1, DYDC2
+34 more
Copy number loss
not provided
GPathogenic
ADIRF, ADIRF-AS1
+33 more
Copy number loss
not provided
GPathogenic
BMPR1A, LDB3
+2 more
Copy number gain
not provided
GUncertain significance
ADIRF, ADIRF-AS1
+32 more
Copy number loss
not provided
GPathogenic
ADIRF, ADIRF-AS1
+29 more
Copy number loss
not provided
GPathogenic
ACTA2, ADAMTS14
+168 more
Copy number gain
not provided
GPathogenic
ACTA2, ADIRF
+55 more
Copy number loss
not provided
GPathogenic
LINC01520, LOC101929662
+32 more
Copy number gain
not provided
GLikely pathogenic
WAPL
(R731H +1 more)
Single nucleotide variant
(missense variant)
WAPL-related disorder
GUncertain significance
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ADIRF, ADIRF-AS1
+29 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+32 more
Copy number loss
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
ADIRF, ADIRF-AS1
+32 more
Copy number loss
See cases
GPathogenic
ANXA11, BMPR1A
+24 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
FAM25A, GHITM
+168 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+174 more
Copy number loss
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
ADIRF, ADIRF-AS1
+166 more
Copy number loss
See cases
GPathogenic
LINC00857, LINC00858
+147 more
Copy number loss
See cases
GPathogenic
ATAD1, ACTA2
+151 more
Copy number gain
See cases
GPathogenic
SHLD2, SNCG
+168 more
Copy number gain
See cases
GPathogenic
LOC130004227, LOC130004228
+168 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+175 more
Copy number loss
See cases
GPathogenic
ANXA11, BMPR1A
+150 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+178 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+178 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+163 more
Copy number loss
See cases
GPathogenic
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