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Items: 1 to 100 of 347

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
LOC129992716, LOC129992717
+533 more
Copy number gain
See cases
GPathogenic
ADH6, LOC123477775
+338 more
Copy number loss
Chromosome 4q21 deletion syndrome
GPathogenic
ABCG2, ABRAXAS1
+335 more
Copy number loss
See cases
GPathogenic
ABCG2, ABRAXAS1
+244 more
Copy number loss
See cases
GPathogenic
LOC129992850, LOC129992851
+123 more
Copy number loss
See cases
GPathogenic
BMPR1B, BMPR1B-DT
+3 more
Copy number gain
See cases
GLikely benign
BMPR1B, BMPR1B-DT
+5 more
Copy number gain
See cases
GUncertain significance
BMPR1B
Single nucleotide variant
(5 prime UTR variant)
Brachydactyly
GUncertain significance
BMPR1B
Single nucleotide variant
(5 prime UTR variant)
Brachydactyly
GUncertain significance
BMPR1B
Single nucleotide variant
(5 prime UTR variant)
Brachydactyly
GUncertain significance
BMPR1B
Single nucleotide variant
(5 prime UTR variant)
Brachydactyly
GUncertain significance
BMPR1B
Single nucleotide variant
(5 prime UTR variant)
Brachydactyly
GBenign
BMPR1B
Single nucleotide variant
(5 prime UTR variant)
Brachydactyly
GBenign
BMPR1B, UNC5C
Copy number loss
See cases
GUncertain significance
BMPR1B
Single nucleotide variant
(5 prime UTR variant)
Brachydactyly
GUncertain significance
BMPR1B
Single nucleotide variant
(5 prime UTR variant +1 more)
Brachydactyly
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 3
GUncertain significance
BMPR1B
Deletion
(intron variant)
not provided
GBenign
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GBenign
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GBenign
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BMPR1B
(R34Q +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly
+4 more
GConflicting classifications of pathogenicity
BMPR1B
(S35R +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(A36T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
BMPR1B
Single nucleotide variant
(synonymous variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Brachydactyly
GUncertain significance
BMPR1B
(T43I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BMPR1B
(K15E +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+2 more
GConflicting classifications of pathogenicity
BMPR1B
(T51I +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(T24A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BMPR1B
(T24I +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(P25R +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GBenign
BMPR1B
(R26H +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
(R26P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BMPR1B
(P27R +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+2 more
GUncertain significance
BMPR1B
(V29F +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GUncertain significance
BMPR1B
(L30V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BMPR1B
(R31C +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
GPathogenic
BMPR1B
(R31H +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly
+2 more
GConflicting classifications of pathogenicity
BMPR1B
(H35Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BMPR1B
Microsatellite
(intron variant)
not provided
GBenign
BMPR1B
Microsatellite
(intron variant)
not provided
GLikely benign
BMPR1B
Microsatellite
(intron variant)
not provided
GBenign
BMPR1B
Single nucleotide variant
(intron variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Brachydactyly
+2 more
GLikely benign
BMPR1B
(C53R +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
GPathogenic
BMPR1B
(D61A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
(S107A +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
(D78G +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly
GUncertain significance
BMPR1B
(R112W +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
GUncertain significance
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GBenign
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GBenign
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
Brachydactyly
+2 more
GBenign/Likely benign
BMPR1B
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
BMPR1B
Single nucleotide variant
(intron variant)
Brachydactyly type A2
+1 more
GUncertain significance
BMPR1B
(D113N +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(T114I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
BMPR1B
(R121I +1 more)
Single nucleotide variant
(missense variant)
BMPR1B-related condition
GUncertain significance
BMPR1B
(E124K +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(T97A +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+2 more
GConflicting classifications of pathogenicity
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+2 more
GBenign/Likely benign
BMPR1B
(P112S +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GBenign
BMPR1B
(D120N +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
(G151fs +1 more)
Deletion
(frameshift variant)
Acromesomelic dysplasia 3
GPathogenic
BMPR1B
(D120E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BMPR1B
(H154Y +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GUncertain significance
BMPR1B
(S131T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
BMPR1B
(V162G +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
(V140I +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly
+4 more
GBenign/Likely benign
BMPR1B
(V140G +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GUncertain significance
BMPR1B
(I173T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
(Y177C +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(R149W +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
BMPR1B
Single nucleotide variant
(intron variant)
not provided
GBenign
BMPR1B
Single nucleotide variant
(splice acceptor variant)
Brachydactyly type A1D
GPathogenic
BMPR1B
(T155N +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Brachydactyly type A2
+2 more
GConflicting classifications of pathogenicity
BMPR1B
(P157S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BMPR1B
(P157L +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GUncertain significance
BMPR1B
(P157R +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(Y159C +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GUncertain significance
BMPR1B
(I161S +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly
GUncertain significance
BMPR1B
(L163I +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A2
+1 more
GUncertain significance
BMPR1B
(E164K +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly
GUncertain significance
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