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Items: 1 to 100 of 367

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+176 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+51 more
Deletion
Brugada syndrome
GPathogenic
ACVR2B, ACVR2B-AS1
+1 more
Single nucleotide variant
(5 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B, ACVR2B-AS1
+1 more
(M1V)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B, ACVR2B-AS1
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACVR2B, ACVR2B-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B, ACVR2B-AS1
+1 more
(P4S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
LOC129936486, ACVR2B
+1 more
(A7V)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B, ACVR2B-AS1
+1 more
(L8F)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
+1 more
GUncertain significance
ACVR2B, ACVR2B-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B, ACVR2B-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B, ACVR2B-AS1
+1 more
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B, ACVR2B-AS1
+1 more
Deletion
(intron variant)
ACVR2B-related disorder
GLikely benign
ACVR2B, ACVR2B-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
ACVR2B, EXOG
+6 more
Duplication
Brugada syndrome
GUncertain significance
ACVR2B
(R21C)
Single nucleotide variant
(missense variant)
ACVR2B-related disorder
GUncertain significance
ACVR2B
(R21H)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(A34T)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(R40H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
ACVR2B
(R48H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2B
(R48L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
+1 more
GBenign
ACVR2B
(E50K)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
+1 more
GLikely benign
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(splice donor variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(E95Q)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ACVR2B
(H115Y)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(P122L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GBenign
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
ACVR2B-related disorder
GLikely benign
ACVR2B
(P128R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR2B
(L136F)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(T137M)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(Y160F)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(R161W)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(R161Q)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(R163H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(P176R)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(P181L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(V185L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(V185L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(L193R)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(W205*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(I218F)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(splice donor variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ACVR2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GBenign
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(Q246H)
Single nucleotide variant
(missense variant)
ACVR2B-related disorder
+1 more
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GBenign
ACVR2B
(E258K)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(V259L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(intron variant)
not provided
GBenign
ACVR2B
Single nucleotide variant
(intron variant)
not provided
GBenign
ACVR2B
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ACVR2B
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ACVR2B
Single nucleotide variant
(intron variant)
ACVR2B-related disorder
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACVR2B
(R309C)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(R309H)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
+1 more
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(intron variant)
not provided
GBenign
ACVR2B
Single nucleotide variant
(intron variant)
not provided
GBenign
ACVR2B
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(V327I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ACVR2B
Single nucleotide variant
(synonymous variant)
ACVR2B-related disorder
GLikely benign
ACVR2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
not provided
GBenign
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACVR2B
Single nucleotide variant
(synonymous variant)
ACVR2B-related disorder
+1 more
GBenign/Likely benign
ACVR2B
(R383C)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GLikely pathogenic
ACVR2B
(R383H)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
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