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Items: 1 to 100 of 120

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059149, LOC130059150
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059618, LOC130059619
+1429 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1426 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1424 more
Copy number gain
See cases
GPathogenic
ADAD2, ADAMTS18
+591 more
Copy number loss
See cases
GPathogenic
HSBP1, HSD17B2
+1041 more
Copy number gain
See cases
GPathogenic
LOC126862439, LOC126862440
+1031 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+832 more
Copy number gain
See cases
GPathogenic
LOC130059708, LOC130059709
+788 more
Copy number gain
See cases
GPathogenic
LINC01081, LINC01082
+781 more
Copy number gain
See cases
GPathogenic
ADAD2, ARLNC1
+447 more
Copy number loss
See cases
GPathogenic
ACSF3, ADAD2
+719 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+691 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+677 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+670 more
Copy number gain
See cases
GPathogenic
LINC02176, LOC101928392
+211 more
Copy number loss
See cases
GPathogenic
LOC130059691, LOC130059692
+566 more
Copy number gain
See cases
GPathogenic
ADAD2, ATP2C2
+106 more
Copy number loss
See cases
GPathogenic
ADAD2, ATP2C2
+93 more
Copy number loss
See cases
GPathogenic
ACSF3, ADAD2
+531 more
Copy number gain
See cases
GLikely pathogenic
ADAD2, CIBAR2
+203 more
Copy number loss
See cases
GPathogenic
ADAD2, KCNG4
+80 more
Copy number gain
See cases
GUncertain significance
LOC130059603, LOC130059604
+227 more
Copy number loss
See cases
GPathogenic
ACSF3, ADAD2
+534 more
Copy number gain
See cases
GLikely pathogenic
LOC121847997, LOC125177366
+70 more
Deletion
Schizophrenia
GLikely pathogenic
LOC130059593, USP10
(L3F)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
LOC130059593, USP10
(P6S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
USP10
(N19S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(F21L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(T28I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(F59Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(P67H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(R77T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(T82I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(G103C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(T109S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(E107G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(A112V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP10
(G115V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(A123T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(V130M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(R149H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(G158E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(D169H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(V189L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(T205K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(S220G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(S230I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(S234N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(A248T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP10
(V274I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(N300S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(E303Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(D311A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(T315A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP10
(P322T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(T337S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(P343R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(A358P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(P386T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(E393A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(T404I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(I422L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(R471Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(I493V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(R494C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(V510A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(G519R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(L550V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(S553T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(N554S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(L557F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(N569S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(I614V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(Q617H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(F629L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(Q632P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(S641A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(I673V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(R688G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(R730G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(R730Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(T731S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(R733Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(A749V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(L789I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP10
(R797C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C16orf74, C16orf95
+25 more
Copy number loss
not provided
GPathogenic
COTL1, CRISPLD2
+2 more
Copy number gain
not provided
GUncertain significance
IL17C, ZFHX3
+150 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
SYCE1L, TAF1C
+368 more
Copy number gain
not provided
GPathogenic
WFDC1, ZDHHC7
+6 more
Copy number gain
not specified
GUncertain significance
HSDL1, ADAD2
+16 more
Copy number loss
not specified
GUncertain significance
BCO1, ACSF3
+102 more
Copy number gain
not provided
GPathogenic
CIBAR2, SLC38A8
+19 more
Copy number gain
not provided
GUncertain significance
ADAD2, DNAAF1
+26 more
Deletion
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
AARS1, ACD
+268 more
Copy number gain
not provided
Gnot provided
OSGIN1, SLC38A8
+18 more
Copy number loss
not provided
GUncertain significance
ADAD2, ATMIN
+34 more
Copy number loss
not provided
GUncertain significance
COTL1, CRISPLD2
+4 more
Copy number loss
not provided
GUncertain significance
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