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Items: 1 to 100 of 704

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936094, LOC129936095
+647 more
Copy number gain
See cases
GPathogenic
ANKRD28, ARL8B
+962 more
Copy number gain
See cases
GPathogenic
LOC129936377, LOC129936378
+1111 more
Copy number gain
See cases
GPathogenic
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+730 more
Copy number gain
See cases
GPathogenic
HDAC11, LOC126806611
+244 more
Deletion
3p- syndrome
GPathogenic
ANKRD28, BALR6
+214 more
Copy number gain
See cases
GPathogenic
ANKRD28, BTD
+43 more
Copy number gain
See cases
GLikely benign
BTD, HACL1
(K18E)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
HACL1, BTD
(N5K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
BTD, HACL1
(S4R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
BTD, HACL1
(D3G)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
BTD, HACL1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
BTD
Single nucleotide variant
(intron variant)
not provided
GBenign
BTD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BTD
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
BTD
Single nucleotide variant
(5 prime UTR variant +3 more)
Biotinidase deficiency
GConflicting classifications of pathogenicity
BTD
Single nucleotide variant
(5 prime UTR variant +2 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GBenign/Likely benign
BTD
Single nucleotide variant
(5 prime UTR variant +2 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(5 prime UTR variant +2 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(5 prime UTR variant +2 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(missense variant +3 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(missense variant +3 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(missense variant +3 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(missense variant +3 more)
Biotinidase deficiency
GUncertain significance
BTD
(A4S)
Single nucleotide variant
(missense variant +3 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(synonymous variant +3 more)
Biotinidase deficiency
GLikely benign
BTD
(I6F)
Single nucleotide variant
(missense variant +3 more)
Biotinidase deficiency
GUncertain significance
BTD
(G8D)
Single nucleotide variant
(missense variant +3 more)
Biotinidase deficiency
GUncertain significance
BTD
(R11G)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
BTD
Single nucleotide variant
(synonymous variant +3 more)
Biotinidase deficiency
GLikely benign
BTD
(K13*)
Single nucleotide variant
(nonsense +3 more)
Biotinidase deficiency
GLikely pathogenic
BTD
Single nucleotide variant
(synonymous variant +3 more)
Biotinidase deficiency
GLikely benign
BTD
(R15G)
Single nucleotide variant
(5 prime UTR variant +3 more)
Biotinidase deficiency
GUncertain significance
BTD
Deletion
(frameshift variant +3 more)
Biotinidase deficiency
GPathogenic
BTD
Deletion
(splice donor variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
Single nucleotide variant
(nonsense +3 more)
Biotinidase deficiency
GLikely pathogenic
BTD
Deletion
(splice donor variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
Single nucleotide variant
(intron variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
Single nucleotide variant
(intron variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
Single nucleotide variant
(splice donor variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
Single nucleotide variant
(intron variant +1 more)
Biotinidase deficiency
GPathogenic/Likely pathogenic
BTD
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Duplication
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GBenign
BTD
Deletion
(intron variant)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Duplication
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Duplication
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
not provided
GBenign
BTD
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
BTD
Single nucleotide variant
(intron variant +1 more)
BTD-related condition
GUncertain significance
BTD
Single nucleotide variant
(intron variant)
not provided
GBenign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Deletion
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(5 prime UTR variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
(S22F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BTD
(R5I +1 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GUncertain significance
BTD
(F31L +1 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GUncertain significance
BTD
(C13fs)
Deletion
(frameshift variant)
Biotinidase deficiency
GUncertain significance
BTD
(C13F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BTD
(C13fs)
Indel
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
BTD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
BTD
(G14R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BTD
(G14fs)
Deletion
(frameshift variant)
Biotinidase deficiency
+1 more
GConflicting classifications of pathogenicity
BTD
(G14fs)
Deletion
(frameshift variant)
Biotinidase deficiency
GPathogenic
BTD
(G14S)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GConflicting classifications of pathogenicity
BTD
(C15fs)
Deletion
(frameshift variant)
Biotinidase deficiency
GPathogenic/Likely pathogenic
BTD
(Y16*)
Duplication
(frameshift variant +1 more)
Biotinidase deficiency
GPathogenic/Likely pathogenic
BTD
(Y36* +1 more)
Single nucleotide variant
(nonsense)
Biotinidase deficiency
GPathogenic
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
+1 more
GConflicting classifications of pathogenicity
BTD
(V17M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BTD
(V18fs)
Deletion
(frameshift variant)
Biotinidase deficiency
GLikely pathogenic
BTD
(G21fs)
Duplication
(frameshift variant)
Biotinidase deficiency
GPathogenic
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
(L20fs)
Deletion
(frameshift variant)
Biotinidase deficiency
GLikely pathogenic
BTD
(L20P +1 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GLikely pathogenic
BTD
(A22P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BTD
(H23R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
(G25R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BTD
(E26*)
Single nucleotide variant
(nonsense)
Biotinidase deficiency
GPathogenic
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
BTD
(A35T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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