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Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR1, ACVR1C
+333 more
Copy number loss
See cases
GPathogenic
LOC129935011, LOC129935012
+530 more
Copy number gain
See cases
GPathogenic
ACVR1, ACVR1C
+275 more
Copy number gain
See cases
GPathogenic
BAZ2B, BAZ2B-AS1
+197 more
Copy number loss
See cases
GPathogenic
FAP, LOC101929532
(L727P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FAP, LOC101929532
(Y720F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FAP, LOC101929532
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
FAP, LOC101929532
(G735S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FAP
(G699R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(T644A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(F664L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
Single nucleotide variant
(intron variant)
not provided
GBenign
FAP
(I613V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(G611D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(D557G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(M542T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(L536V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(S526P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
Single nucleotide variant
(intron variant)
not provided
GBenign
FAP
(E470K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(I462N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FAP
(D432N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(A428T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(G405V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(R426G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(P419S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(Y393N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(I398V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(K371E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(T300I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(M260V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(R238W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(I248V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(A235V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(I206T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(I206V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(T204M +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAP
(L212F +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAP
(A211V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(K184R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(M180I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FAP
(F160L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FAP
(I170S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(S135N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(P122L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(N137T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
FAP
(L90W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(Q65R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(T51P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(N37S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FAP
(N33K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
Single nucleotide variant
(intron variant)
not provided
GBenign
FAP
(R27P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAP
(R27G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB11, B3GALT1
+57 more
Copy number loss
not specified
GPathogenic
CCDC148, CD302
+29 more
Copy number loss
not specified
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
COBLL1, CSRNP3
+21 more
Copy number loss
not specified
GPathogenic
BAZ2B, CCDC148
+22 more
Copy number loss
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
DPP4, GCA
+5 more
Copy number loss
not provided
GUncertain significance
BAZ2B, CD302
+19 more
Copy number loss
Autistic behavior
+1 more
GLikely pathogenic
DPP4, FAP
+6 more
Copy number loss
Autistic behavior
+1 more
GLikely pathogenic
COBLL1, CSRNP3
+18 more
Deletion
not provided
GPathogenic
DPP4, FAP
+6 more
Deletion
Severe global developmental delay
+1 more
GLikely pathogenic
LY75-CD302, MARCHF7
+19 more
Deletion
Severe global developmental delay
+1 more
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ACVR1, ACVR1C
+42 more
Copy number loss
See cases
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
DPP4, FAP
+2 more
Copy number gain
See cases
GUncertain significance
FAP, GCG
+9 more
Copy number loss
See cases
GPathogenic
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
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