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Items: 1 to 100 of 136

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
ABRAXAS1, ADAMTS3
+331 more
Copy number gain
See cases
GPathogenic
LOC129992714, LOC129992715
+236 more
Copy number loss
See cases
GPathogenic
ABCG2, ABRAXAS1
+338 more
Copy number loss
Chromosome 4q21 deletion syndrome
GPathogenic
ABCG2, ABRAXAS1
+251 more
Copy number loss
See cases
GPathogenic
BMP3, CDS1
+137 more
Copy number loss
See cases
GPathogenic
ABRAXAS1, AFF1
+146 more
Copy number loss
See cases
GPathogenic
ABCG2, ABRAXAS1
+335 more
Copy number loss
See cases
GPathogenic
ABCG2, ABRAXAS1
+244 more
Copy number loss
See cases
GPathogenic
ABRAXAS1, BMP3
+90 more
Copy number loss
See cases
GLikely pathogenic
ABRAXAS1, COPS4
+74 more
Copy number loss
See cases
GLikely pathogenic
COPS4, COQ2
+60 more
Copy number loss
See cases
GPathogenic
COPS4, COQ2
+60 more
Copy number loss
See cases
GPathogenic
HELQ
(V1027M +3 more)
Single nucleotide variant
(missense variant)
HELQ-related disorder
GBenign
HELQ
(A1026T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(K1005R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(L986F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(N1042S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(H493Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(M1036I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(R1023G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(A1008T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(G426A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(K402Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(N933S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(D431N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
Single nucleotide variant
(intron variant)
HELQ-related disorder
GLikely benign
HELQ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HELQ
(N339D +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HELQ
(Y332F +3 more)
Single nucleotide variant
(missense variant)
HELQ-related disorder
GBenign
HELQ
(T330A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(I298V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(I333T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(T310A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(L262P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
Single nucleotide variant
(synonymous variant)
HELQ-related disorder
GBenign
HELQ
Single nucleotide variant
(synonymous variant)
HELQ-related disorder
GBenign
HELQ
(R643C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(I161M +3 more)
Single nucleotide variant
(missense variant)
HELQ-related disorder
GLikely benign
HELQ
(A195G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(A607V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(V663A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(V596M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(S582G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(S578N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(Y98C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(Y642H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(P570A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(R137H +3 more)
Single nucleotide variant
(missense variant)
HELQ-related disorder
GBenign
HELQ
(N128S +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HELQ
(I556L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(H111R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
Single nucleotide variant
(intron variant)
HELQ-related disorder
GLikely benign
HELQ
(A594T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(E47G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HELQ
(P41S +3 more)
Single nucleotide variant
(missense variant)
HELQ-related disorder
GBenign
HELQ
Single nucleotide variant
(intron variant)
HELQ-related disorder
GBenign
HELQ
Single nucleotide variant
(intron variant)
HELQ-related disorder
GBenign
HELQ
(N485H +3 more)
Single nucleotide variant
(missense variant)
HELQ-related disorder
GBenign
HELQ
(R482H +3 more)
Single nucleotide variant
(missense variant)
HELQ-related disorder
GBenign
HELQ
(M1V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(G428A +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
Single nucleotide variant
(synonymous variant +2 more)
HELQ-related disorder
GBenign
HELQ
Single nucleotide variant
(synonymous variant +2 more)
HELQ-related disorder
GLikely benign
HELQ
Single nucleotide variant
(synonymous variant +1 more)
HELQ-related disorder
GLikely benign
HELQ
(Y434F)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
HELQ
(I398V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
HELQ
Single nucleotide variant
(intron variant)
HELQ-related disorder
GLikely benign
HELQ
(Y357H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HELQ
(L355S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HELQ
Single nucleotide variant
(synonymous variant +1 more)
HELQ-related disorder
GLikely benign
HELQ
(S348F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HELQ
Single nucleotide variant
(synonymous variant +1 more)
HELQ-related disorder
GBenign
HELQ
Single nucleotide variant
(3 prime UTR variant +2 more)
HELQ-related disorder
GBenign
HELQ
(K298T +1 more)
Single nucleotide variant
(missense variant +2 more)
HELQ-related disorder
GLikely benign
HELQ
(S321G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(N274D +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
HELQ
(V269I +1 more)
Single nucleotide variant
(missense variant +2 more)
HELQ-related disorder
GBenign
HELQ
(V264F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(R261G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(M222R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(S250Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(L198P +1 more)
Single nucleotide variant
(missense variant +2 more)
HELQ-related disorder
GBenign
HELQ
(V231L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(H228Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(E220K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(E138K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
HELQ
(E167K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(T161A +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(T123N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(I159V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
HELQ
(C112S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
(H139L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HELQ
Single nucleotide variant
(synonymous variant +2 more)
HELQ-related disorder
GLikely benign
HELQ
Single nucleotide variant
(synonymous variant +2 more)
HELQ-related disorder
GLikely benign
HELQ, LOC112997542
(H89Y)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
HELQ, LOC112997542
(L75H)
Single nucleotide variant
(missense variant +3 more)
HELQ-related disorder
GLikely benign
HELQ, LOC112997542
Single nucleotide variant
(synonymous variant +2 more)
HELQ-related disorder
GLikely benign
HELQ, LOC112997542
(M46V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
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