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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR1, ACVR1C
+238 more
Copy number gain
See cases
GPathogenic
ACVR2A, EPC2
+54 more
Copy number loss
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
LYPD6
(A22V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LYPD6
(G46R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LYPD6
(T93I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LYPD6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LYPD6
(C107F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LYPD6
(R133G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LYPD6
(T139A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LYPD6
(T142M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LYPD6
(T143M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LYPD6
(Q148E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2A, ARL5A
+13 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPC2, LYPD6
+3 more
Copy number gain
not specified
GUncertain significance
ACVR2A, ARHGAP15
+17 more
Copy number loss
not specified
GPathogenic
ACVR2A, ARHGAP15
+17 more
Copy number gain
not provided
GPathogenic
ACVR2A, ARHGAP15
+28 more
Copy number gain
Global developmental delay
+2 more
GPathogenic
LYPD6, MMADHC
Copy number gain
not provided
GUncertain significance
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
ACVR2A, EPC2
+6 more
Copy number loss
See cases
GPathogenic
EPC2, LYPD6
+9 more
Copy number loss
See cases
GPathogenic
MMADHC, LYPD6
+1 more
Copy number gain
See cases
GUncertain significance
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