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Items: 1 to 100 of 559

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMPR1A
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BMPR1A
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GLikely benign
BMPR1A
Single nucleotide variant
(5 prime UTR variant)
Juvenile polyposis syndrome
+2 more
GConflicting classifications of pathogenicity
BMPR1A
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
BMPR1A
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
BMPR1A
Single nucleotide variant
(5 prime UTR variant)
Juvenile polyposis syndrome
+3 more
GConflicting classifications of pathogenicity
BMPR1A
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BMPR1A
Single nucleotide variant
(5 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BMPR1A
(M1L)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis syndrome
+1 more
GPathogenic/Likely pathogenic
BMPR1A
(P2T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
BMPR1A
(P2R)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(P2L)
Single nucleotide variant
(missense variant)
Generalized juvenile polyposis/juvenile polyposis coli
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(Q3P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BMPR1A
(Q3H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
BMPR1A
(Y7H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BMPR1A
(Y7F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BMPR1A
(I8V)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GConflicting classifications of pathogenicity
BMPR1A
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
+1 more
GLikely benign
BMPR1A
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
BMPR1A
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
+2 more
GConflicting classifications of pathogenicity
BMPR1A
Single nucleotide variant
(synonymous variant)
Generalized juvenile polyposis/juvenile polyposis coli
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(A13T)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
BMPR1A
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
+1 more
GLikely benign
BMPR1A
(L15F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BMPR1A
(I17L)
Single nucleotide variant
(missense variant)
BMPR1A-related disorder
+5 more
GConflicting classifications of pathogenicity
BMPR1A
(S19F)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(R20C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BMPR1A
(R20H)
Single nucleotide variant
(missense variant)
Generalized juvenile polyposis/juvenile polyposis coli
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(Q22H)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GUncertain significance
BMPR1A
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
BMPR1A
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
+1 more
GLikely benign
BMPR1A
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
BMPR1A
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
BMPR1A
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
+1 more
GLikely benign
BMPR1A
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BMPR1A
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
+3 more
GBenign/Likely benign
BMPR1A
(Q24L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BMPR1A
(Q24R)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GUncertain significance
BMPR1A
(N25S)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(S28G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BMPR1A
(S28N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(L2P +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BMPR1A
(L30R)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(H31P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
(G32R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(T33A)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(T33S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(G34R)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+2 more
GUncertain significance
BMPR1A
(M35V)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+2 more
GConflicting classifications of pathogenicity
BMPR1A
(M35I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BMPR1A
(K36T)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(D38H)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(D38E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BMPR1A
(S39Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BMPR1A
(S39F)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+2 more
GUncertain significance
BMPR1A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
BMPR1A
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GLikely benign
BMPR1A
(D40N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(D40A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BMPR1A
(D40E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BMPR1A
(K42E)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+3 more
GUncertain significance
BMPR1A
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
+1 more
GLikely benign
BMPR1A
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
+1 more
GLikely benign
BMPR1A
(E45G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BMPR1A
(G47V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
BMPR1A
(G47E)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+4 more
GConflicting classifications of pathogenicity
BMPR1A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
BMPR1A
(E53K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BMPR1A
(D54N)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(D54V)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(P57R)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+3 more
GUncertain significance
BMPR1A
(F58Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BMPR1A
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
+1 more
GLikely benign
BMPR1A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
BMPR1A
(Y62C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BMPR1A
(C63*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
GPathogenic
BMPR1A
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
+1 more
GLikely benign
BMPR1A
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
+2 more
GLikely benign
BMPR1A
(H66R)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
BMPR1A
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
BMPR1A
(I72V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BMPR1A
(I77L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BMPR1A
(I77V)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
+1 more
GConflicting classifications of pathogenicity
BMPR1A
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
BMPR1A
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
BMPR1A
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
+1 more
GLikely benign
BMPR1A
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
+1 more
GLikely benign
BMPR1A
Duplication
(intron variant)
Juvenile polyposis syndrome
+2 more
GBenign/Likely benign
BMPR1A
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
BMPR1A
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
+1 more
GLikely benign
BMPR1A
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BMPR1A
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
BMPR1A
(H81Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BMPR1A
(H81R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BMPR1A
(A84T)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
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