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Links from MedGen

Items: 1 to 100 of 296

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIEZO2
Deletion
(inframe_deletion)
Heterotaxy, visceral, 4, autosomal
GLikely pathogenic
ACVR2B
Single nucleotide variant
(synonymous 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
(G405R)
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
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(S484L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(V497M)
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
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
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
(I418L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(E258K)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(I512V)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(Q246H)
Single nucleotide variant
(missense variant)
ACVR2B-related disorder
+1 more
GUncertain significance
ACVR2B
(R21H)
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
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(P181L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(I384T)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B, ACVR2B-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(V185L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(I218F)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(L396V)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
+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
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
(A34T)
Single nucleotide variant
(missense 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
GBenign
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
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B, ACVR2B-AS1
+1 more
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(V259L)
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
(P4S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(L136F)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(H115Y)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(E50K)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(V407M)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(V327I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ACAA1, ACVR2B
+19 more
Duplication
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GBenign
ACVR2B
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(R482Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ACVR2B
(R383H)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(M386L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
(R309C)
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
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GBenign
ACVR2B
(R161Q)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
(Y160F)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GLikely benign
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GBenign
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
ACVR2B
Single nucleotide variant
(3 prime UTR 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
(synonymous variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance
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