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Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935011, LOC129935012
+530 more
Copy number gain
See cases
GPathogenic
ABCB11, AGPS
+488 more
Copy number loss
See cases
GPathogenic
ABCB11, ATF2
+269 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+214 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+136 more
Copy number loss
See cases
GPathogenic
ATP5MC3, ATF2
+159 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+150 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+68 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+66 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+66 more
Copy number gain
See cases
Gconflicting data from submitters
AGPS, ATF2
+224 more
Copy number loss
See cases
GPathogenic
CIR1, GPR155
+5 more
Copy number loss
See cases
GUncertain significance
GPR155
(S839T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(A847T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(R797W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(Y794C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(G772S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(R771C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR155
(W761C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(G745D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(R736Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GPR155
(R759H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(P714T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(D734A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPR155
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPR155
(R687K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(I638V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(R629G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(S631T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(N627S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(F623S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(S586C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(P546L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(G538R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(D555N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(M512V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPR155
(S531N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(S503G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(I494V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(E491K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(I501L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(I455V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(I451S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(S425F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(N439Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(V407F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(L414F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPR155
(Q380P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPR155
(V360I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(E341G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(S306R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(E296A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(F258L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(K236N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(L233V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(I219V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(L215F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(L211I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(V207L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(T160I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GPR155
(Q143L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(C118Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(T66I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(M37V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(D33E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(F28C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR155
(T19P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPS, ATF2
+38 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
AGPS, ATF2
+47 more
Deletion
Split hand-foot malformation 5
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
ATF2, ATP5MC3
+22 more
Copy number gain
not provided
Gnot provided
PJVK, RBM45
+60 more
Copy number loss
3-4 finger osseus syndactyly
+1 more
GPathogenic
ABCB11, AGPS
+97 more
Copy number loss
2q24 microdeletion syndrome
GPathogenic
AGPS, ANKAR
+86 more
Copy number loss
not provided
GPathogenic
CDCA7, CIR1
+8 more
Copy number loss
not provided
GUncertain significance
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ABCB11, AGPS
+125 more
Copy number loss
not provided
GPathogenic
AGPS, ATF2
+56 more
Copy number loss
not provided
GPathogenic
ATF2, ATP5MC3
+27 more
Copy number gain
not provided
GPathogenic
AGPS, ATF2
+29 more
Copy number loss
not provided
GPathogenic
ATF2, ATP5MC3
+10 more
Copy number loss
See cases
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
ATF2, ATP5MC3
+9 more
Copy number loss
See cases
GLikely pathogenic
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