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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR1, ACVR1C
+238 more
Copy number gain
See cases
GPathogenic
ACVR2A, ARL5A
+146 more
Copy number gain
See cases
GPathogenic
ACVR1, ACVR1C
+189 more
Copy number loss
See cases
GPathogenic
ACVR2A, ARL5A
+119 more
Copy number loss
See cases
GPathogenic
ACVR1, ACVR1C
+333 more
Copy number loss
See cases
GPathogenic
ACVR1, ACVR1C
+147 more
Copy number loss
See cases
GPathogenic
ARL6IP6
(S2L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(S30F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(E46K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(L55V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(L55R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(R56G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(R56L)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ARL6IP6
(W64*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
ARL6IP6
(P67L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6, LOC129934935
(R70P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(N88T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(A93S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(A99V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(Q100H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6, LOC129934936
(I111T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ARL6IP6, LOC129934936
(L112I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ARL6IP6, LOC129934936
(S114L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ARL6IP6, LOC129934936
(L121I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ARL6IP6, LOC129934936
(L125F)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
GLikely pathogenic
ARL6IP6
Single nucleotide variant
(intron variant)
not provided
GBenign
ARL6IP6
(S83F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARL6IP6
(P96S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(A162T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(S106C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP6
(Y207C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL5A, ARL6IP6
+9 more
Copy number loss
not specified
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ACVR1, ACVR1C
+17 more
Copy number gain
not provided
Gnot provided
ARL6IP6, CACNB4
+25 more
Copy number loss
not provided
GPathogenic
ARL5A, ARL6IP6
+14 more
Copy number loss
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
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