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Links from MedGen

Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMPR1A
(D27fs)
Deletion
(frameshift variant +2 more)
Polyposis syndrome, hereditary mixed, 2
GLikely pathogenic
BMPR1A
(Q121fs +5 more)
Deletion
(frameshift variant +1 more)
Polyposis syndrome, hereditary mixed, 2
GLikely pathogenic
BMPR1A
(T115S +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyposis syndrome, hereditary mixed, 2
GUncertain significance
BMPR1A
(D205V +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyposis syndrome, hereditary mixed, 2
GUncertain significance
BMPR1A
(M122K +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Polyposis syndrome, hereditary mixed, 2
GUncertain significance
BMPR1A
(H38Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Polyposis syndrome, hereditary mixed, 2
GUncertain significance
BMPR1A
Single nucleotide variant
(intron variant)
Polyposis syndrome, hereditary mixed, 2
GUncertain significance
BMPR1A
(V146L +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyposis syndrome, hereditary mixed, 2
GUncertain significance
BMPR1A
(I368F +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyposis syndrome, hereditary mixed, 2
GUncertain significance
BMPR1A
(E154A +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyposis syndrome, hereditary mixed, 2
GUncertain significance
BMPR1A
(G218R +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyposis syndrome, hereditary mixed, 2
GUncertain significance
BMPR1A
(L212fs +5 more)
Duplication
(frameshift variant +1 more)
Polyposis syndrome, hereditary mixed, 2
GLikely pathogenic
BMPR1A
(K208E +5 more)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+1 more
GUncertain significance
BMPR1A
(T344A +5 more)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(R492G +5 more)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(R9*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
BMPR1A
(V48I +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BMPR1A
(A302P +5 more)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+1 more
GUncertain significance
BMPR1A
(A241G +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
Microsatellite
(inframe_indel +1 more)
Polyposis syndrome, hereditary mixed, 2
+1 more
GUncertain significance
BMPR1A
(G217S)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(K43fs)
Deletion
(frameshift variant)
Juvenile polyposis syndrome
+1 more
GPathogenic
BMPR1A
(N418K)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GUncertain significance
BMPR1A
(D327N)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(P2S)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(V483A)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(A339T)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+2 more
GUncertain significance
BMPR1A
(I169L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
(N190D)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+2 more
GConflicting classifications of pathogenicity
BMPR1A
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely pathogenic
BMPR1A
(T137S)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+3 more
GUncertain significance
BMPR1A
(G12E)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GUncertain significance
BMPR1A
(P114A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
(I292V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
(L334M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
(G34R)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GUncertain significance
BMPR1A
(I165T)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+2 more
GUncertain significance
BMPR1A
(N420K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
(Y458*)
Single nucleotide variant
(nonsense)
Juvenile polyposis syndrome
+1 more
GPathogenic
BMPR1A
(M236I)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+2 more
GUncertain significance
BMPR1A
(F108L)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+1 more
GUncertain significance
BMPR1A
(A166T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BMPR1A
(Q214K)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+3 more
GUncertain significance
BMPR1A
(R126Q)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GUncertain significance
BMPR1A
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
(R191C)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+3 more
GUncertain significance
BMPR1A
(R494Q)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+3 more
GUncertain significance
BMPR1A
(E491K)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GUncertain significance
BMPR1A
(E472D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
(Y350H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(Q117R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
(H81L)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GUncertain significance
BMPR1A
(T33A)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(R486W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BMPR1A
(I482V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BMPR1A
(M460I)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+3 more
GUncertain significance
BMPR1A
(T391S)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+1 more
GUncertain significance
BMPR1A
(R238G)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(P140S)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+4 more
GUncertain significance
BMPR1A
Duplication
(inframe_insertion)
not provided
+3 more
GUncertain significance
BMPR1A
(T78I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BMPR1A
(M524I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BMPR1A
(R254H)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+4 more
GUncertain significance
BMPR1A
(N25S)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(G32R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(L317fs)
Microsatellite
(frameshift variant)
Polyposis syndrome, hereditary mixed, 2
+2 more
GPathogenic
BMPR1A
(R244Q)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(C323R)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+3 more
GUncertain significance
BMPR1A
(A505T)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(A357T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(V385I)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(I169del)
Microsatellite
(inframe_deletion)
Aplasia/Hypoplasia involving the metacarpal bones
+4 more
GUncertain significance
BMPR1A
Single nucleotide variant
(3 prime UTR variant)
Polyposis syndrome, hereditary mixed, 2
+2 more
GUncertain significance
BMPR1A
(M500V)
Single nucleotide variant
(missense variant)
Generalized juvenile polyposis/juvenile polyposis coli
+6 more
GConflicting classifications of pathogenicity
BMPR1A
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
+4 more
GBenign
BMPR1A
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
+4 more
GBenign
BMPR1A
(R188C)
Single nucleotide variant
(missense variant)
BMPR1A-related condition
+5 more
GConflicting classifications of pathogenicity
BMPR1A
(R329S)
Single nucleotide variant
(missense variant)
Generalized juvenile polyposis/juvenile polyposis coli
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(S389N)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+3 more
GUncertain significance
BMPR1A
(I169F)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(K523R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BMPR1A
(N507S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
BMPR1A
(R187H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(I17L)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
BMPR1A
(A116V)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+2 more
GUncertain significance
BMPR1A
(R480W)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(Q212K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(L381V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BMPR1A
(R188H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(S28N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(C173W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
(Y425F)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(G47E)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(K42E)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+3 more
GUncertain significance
BMPR1A
(M460T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(R361*)
Single nucleotide variant
(nonsense)
Polyposis syndrome, hereditary mixed, 2
+4 more
GPathogenic
BMPR1A
Single nucleotide variant
(synonymous variant)
Generalized juvenile polyposis/juvenile polyposis coli
+4 more
GBenign
BMPR1A
(R361Q)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+3 more
GUncertain significance
BMPR1A
(Q304R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(R254C)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+6 more
GConflicting classifications of pathogenicity
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