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Items: 30

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
ABCB11, BBS5
+33 more
Copy number loss
See cases
GUncertain significance
CFAP210, BBS5
+28 more
Copy number loss
See cases
GUncertain significance
PHOSPHO2, PHOSPHO2-KLHL23
(K2R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHOSPHO2, PHOSPHO2-KLHL23
(I13V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHOSPHO2, PHOSPHO2-KLHL23
(N17S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHOSPHO2, PHOSPHO2-KLHL23
(T75N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHOSPHO2, PHOSPHO2-KLHL23
(M78V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHOSPHO2, PHOSPHO2-KLHL23
(D99Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHOSPHO2, PHOSPHO2-KLHL23
(S102L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHOSPHO2, PHOSPHO2-KLHL23
(S113N)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PHOSPHO2, PHOSPHO2-KLHL23
(Q164E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHOSPHO2, PHOSPHO2-KLHL23
(I177T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHOSPHO2, PHOSPHO2-KLHL23
(F237L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHOSPHO2, PHOSPHO2-KLHL23
(I239V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB11, B3GALT1
+57 more
Copy number loss
not specified
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
METTL8, PSMD14
+67 more
Copy number loss
2q24 microdeletion syndrome
GPathogenic
ABCB11, AGPS
+97 more
Copy number loss
2q24 microdeletion syndrome
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ABCB11, AGPS
+125 more
Copy number loss
not provided
GPathogenic
ABCB11, BBS5
+13 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
CERS6, SSB
+17 more
Copy number loss
See cases
GLikely pathogenic
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