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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR2A, ARHGAP15
+57 more
Copy number loss
See cases
GPathogenic
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, EPC2
+32 more
Copy number gain
See cases
GUncertain significance
ACVR2A, ARL5A
+119 more
Copy number loss
See cases
GPathogenic
ACVR2A, LOC126806366
+7 more
Copy number loss
See cases
GLikely pathogenic
ACVR2A, LOC126806366
+7 more
Copy number loss
See cases
GLikely pathogenic
ACVR2A, LOC126806366
+7 more
Copy number loss
See cases
GPathogenic
ACVR2A
(P49L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACVR2A
(K94R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACVR2A
(T131R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2A
(R162G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2A
(I115V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2A
(V261M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2A
(G191R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2A
(N332T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2A
(R255Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2A
(I386T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2A
(V387L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2A, MBD5
+1 more
Copy number loss
not specified
GPathogenic
ACMSD, ACVR2A
+26 more
Copy number gain
not specified
GLikely pathogenic
ACVR2A, ARL5A
+13 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ACVR2A, ORC4
Copy number loss
not specified
GUncertain significance
ACVR2A, EPC2
+2 more
Copy number loss
not specified
GPathogenic
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
ACVR2A, MBD5
+1 more
Copy number loss
not provided
GPathogenic
MBD5, ACVR2A
+1 more
Copy number loss
not provided
GPathogenic
ARL6IP6, CACNB4
+25 more
Copy number loss
not provided
GPathogenic
ACVR2A, MBD5
+1 more
Deletion
Chromosome 2q23.1 deletion syndrome
Gnot provided
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
ACVR2A, EPC2
+2 more
Duplication
MBD5 associated neurodevelopmental disorder
GPathogenic
ACVR2A, ORC4
Duplication
MBD5 associated neurodevelopmental disorder
GPathogenic
ORC4, KIF5C
+3 more
Duplication
MBD5 associated neurodevelopmental disorder
GPathogenic
GTDC1, KYNU
+7 more
Duplication
MBD5 associated neurodevelopmental disorder
GPathogenic
ACVR2A, MBD5
+1 more
Deletion
MBD5 associated neurodevelopmental disorder
GPathogenic
ACVR2A, MBD5
+1 more
Deletion
MBD5 associated neurodevelopmental disorder
GPathogenic
ACVR2A, MBD5
+1 more
Deletion
MBD5 associated neurodevelopmental disorder
GPathogenic
ACVR2A, MBD5
+1 more
Deletion
MBD5 associated neurodevelopmental disorder
GPathogenic
ACVR2A, MBD5
+1 more
Deletion
MBD5 associated neurodevelopmental disorder
GPathogenic
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