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Items: 34

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
LOC129935070, LOC129935071
+162 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
DLX1
(M35V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLX1
(H37Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLX1
(S76N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLX1
(R100L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLX1
(R180Q)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
DLX1
(A198T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLX1
(A200V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLX1
(A204V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLX1
(P218T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLX1
(P235S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLX1
(S236R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ABCB11, B3GALT1
+57 more
Copy number loss
not specified
GPathogenic
CDCA7, CYBRD1
+15 more
Duplication
not provided
GUncertain significance
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
METTL8, PSMD14
+67 more
Copy number loss
2q24 microdeletion syndrome
GPathogenic
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
DLX1, HAT1
+2 more
Copy number gain
not provided
GUncertain significance
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ABCB11, AGPS
+125 more
Copy number loss
not provided
GPathogenic
ATF2, ATP5MC3
+27 more
Copy number gain
not provided
GPathogenic
SLC25A12, DLX1
+5 more
Copy number gain
Isolated Pierre-Robin syndrome
+3 more
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
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