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Items: 1 to 100 of 496

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRB3, ADGRB3-DT
+310 more
Copy number loss
See cases
GPathogenic
ADGRB3, COL19A1
+35 more
Copy number gain
See cases
GPathogenic
LMBRD1
Single nucleotide variant
(3 prime UTR variant)
Methylmalonic aciduria and homocystinuria type cblF
GBenign
LMBRD1
Single nucleotide variant
(3 prime UTR variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
Single nucleotide variant
(3 prime UTR variant)
Methylmalonic aciduria and homocystinuria type cblF
GBenign
LMBRD1
Single nucleotide variant
(3 prime UTR variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
Single nucleotide variant
(3 prime UTR variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
Single nucleotide variant
(3 prime UTR variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
Single nucleotide variant
(3 prime UTR variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
Single nucleotide variant
(3 prime UTR variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(Y538C +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GConflicting classifications of pathogenicity
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(E526G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(E449D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(S446L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LMBRD1
(C440Y +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
(V438I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(V504L +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GBenign/Likely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
not provided
GBenign
LMBRD1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GBenign
LMBRD1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(F428L +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GUncertain significance
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(A420D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(Y408* +1 more)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria and homocystinuria type cblF
GPathogenic
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(Y408C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(T480A +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
(R406Q +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
(R406W +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Duplication
(intron variant)
not provided
GLikely benign
LMBRD1
Deletion
(intron variant)
not provided
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
not provided
GBenign
LMBRD1
Single nucleotide variant
(intron variant)
not provided
GBenign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(D469E +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(A395V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(C466Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(C393fs +1 more)
Insertion
(frameshift variant)
Cobalamin C disease
GLikely pathogenic
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(S461C +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
(N384S +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(I449M +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
(I449T +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
(N375T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(splice acceptor variant)
Methylmalonic aciduria and homocystinuria type cblF
GPathogenic/Likely pathogenic
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(intron variant)
not provided
GBenign
LMBRD1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LMBRD1
Single nucleotide variant
(splice donor variant)
Methylmalonic aciduria and homocystinuria type cblF
+2 more
GConflicting classifications of pathogenicity
LMBRD1
Single nucleotide variant
(splice donor variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely pathogenic
LMBRD1
(L444S +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
LMBRD1
(Q441* +1 more)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria and homocystinuria type cblF
GPathogenic
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(Y429C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(L345fs +1 more)
Duplication
(frameshift variant)
Methylmalonic aciduria and homocystinuria type cblF
GPathogenic
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblF
GLikely benign
LMBRD1
(R406K +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
GUncertain significance
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