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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB11, AGPS
+488 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
+224 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ASDURF
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
CHROMR, FKBP7
+17 more
Duplication
Dystonia 16
GUncertain significance
FKBP7
(E179Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKBP7
(K166I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKBP7
(M158I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP7
(T153I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKBP7
(R148Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKBP7
(R149W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKBP7
(I139T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP7
(I135F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKBP7
(P131L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKBP7
(V112L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP7
(P105S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP7
(I98V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP7
(L96I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP7
(K83R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP7
(E79K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP7
(I12F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP7
(T4S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPS, CCDC141
+10 more
Deletion
not provided
GPathogenic
FKBP7, PJVK
+3 more
Duplication
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
FKBP7, PJVK
+3 more
Duplication
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
FKBP7, PJVK
+3 more
Duplication
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
CCDC141, FKBP7
+6 more
Copy number gain
not specified
GUncertain significance
AGPS, CCDC141
+11 more
Duplication
not provided
GUncertain significance
AGPS, CCDC141
+11 more
Deletion
not provided
GUncertain significance
CCDC141, FKBP7
+4 more
Duplication
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
FKBP7, PJVK
+3 more
Deletion
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
AGPS, ATF2
+38 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
PJVK, RBM45
+60 more
Copy number loss
3-4 finger osseus syndactyly
+1 more
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
ABCB11, AGPS
+97 more
Copy number loss
2q24 microdeletion syndrome
GPathogenic
TTC30A, TTC30B
+11 more
Copy number gain
not provided
GUncertain significance
AGPS, ANKAR
+86 more
Copy number loss
not provided
GPathogenic
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
OSBPL6, FKBP7
+6 more
Copy number gain
not provided
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
AGPS, ANKAR
+62 more
Copy number loss
See cases
GPathogenic
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