U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 501

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+393 more
Copy number loss
See cases
GPathogenic
CCL20, CHRND
+347 more
Copy number loss
See cases
GPathogenic
LOC129935966, LOC129935967
+630 more
Copy number gain
See cases
GPathogenic
LOC126806558, LOC126806559
+309 more
Copy number gain
See cases
GPathogenic
LOC132088828, LOC132088829
+576 more
Copy number gain
See cases
GPathogenic
LOC126806547, LOC129389006
+16 more
Copy number loss
See cases
GUncertain significance
SP110
Insertion
(3 prime UTR variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GBenign
SP110
Deletion
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
SP110
Single nucleotide variant
(3 prime UTR variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(3 prime UTR variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(3 prime UTR variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(3 prime UTR variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(P713R +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
+2 more
GUncertain significance
SP110
(L738R +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(F715L +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(G684R +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(G684S +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(G707D +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
+1 more
GUncertain significance
SP110
(G739C +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(synonymous variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
(D641N +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(N681S +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SP110
Single nucleotide variant
(synonymous variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Single nucleotide variant
(synonymous variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Single nucleotide variant
(synonymous variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
(G635D +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(G682S +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(synonymous variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
(L634F +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SP110
(V674M +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(synonymous variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
(K696E +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(D700fs +6 more)
Duplication
(frameshift variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(E668G +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(F667S +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(synonymous variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
(L622V +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(L685P +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(G687R +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(F615L +6 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Microsatellite
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GConflicting classifications of pathogenicity
SP110
Single nucleotide variant
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Single nucleotide variant
(intron variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(K702E +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(K672* +5 more)
Single nucleotide variant
(nonsense +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(H677R +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(R645H +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GBenign
SP110
(R669C +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(R665S +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(M646T +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(D645A +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(R644Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SP110
(R638* +5 more)
Single nucleotide variant
(nonsense +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GConflicting classifications of pathogenicity
SP110
Single nucleotide variant
(synonymous variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Single nucleotide variant
(synonymous variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Single nucleotide variant
(synonymous variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Single nucleotide variant
(synonymous variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
SP110
(T628M +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(K623E +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(L645fs +5 more)
Deletion
(frameshift variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GPathogenic
SP110
(L643W +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SP110
(E635D +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
+1 more
GUncertain significance
SP110
Single nucleotide variant
(synonymous variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
(G616R +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(G610S +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(synonymous variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
(R607P +5 more)
Single nucleotide variant
(missense variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(R607* +5 more)
Single nucleotide variant
(nonsense +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GPathogenic/Likely pathogenic
SP110
Single nucleotide variant
(intron variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely pathogenic
SP110
Deletion
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Single nucleotide variant
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Microsatellite
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Single nucleotide variant
(intron variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely pathogenic
SP110
Single nucleotide variant
(intron variant +1 more)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely pathogenic
SP110
Single nucleotide variant
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Single nucleotide variant
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GBenign
SP110
Single nucleotide variant
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Single nucleotide variant
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
+2 more
GBenign
SP110
Single nucleotide variant
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Deletion
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(intron variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(synonymous variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
(L392R +2 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(synonymous variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
Deletion
(nonsense)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GPathogenic
SP110
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SP110
Single nucleotide variant
(synonymous variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
SP110
(H589fs +1 more)
Deletion
(frameshift variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely pathogenic
SP110
(H589L +1 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(Q593R +1 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(Q586R +1 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
(G381E +2 more)
Single nucleotide variant
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GUncertain significance
SP110
Single nucleotide variant
(synonymous variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GLikely benign
Format
Items per page
Sort by
Choose Destination