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 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
ADAD2, ADAMTS18
+591 more
Copy number loss
See cases
GPathogenic
LOC130059850, LOC130059851
+1041 more
Copy number gain
See cases
GPathogenic
PKD1L2, PKD1L3
+1031 more
Copy number gain
See cases
GPathogenic
LOC130059772, LOC130059773
+832 more
Copy number gain
See cases
GPathogenic
LOC132090418, LOC132090419
+788 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+781 more
Copy number gain
See cases
GPathogenic
LOC130059506, LOC130059507
+447 more
Copy number loss
See cases
GPathogenic
LOC130059746, LOC130059747
+719 more
Copy number gain
See cases
GPathogenic
LOC130059500, LOC130059501
+691 more
Copy number gain
See cases
GPathogenic
LOC132090448, LOC132090449
+677 more
Copy number gain
See cases
GPathogenic
LOC130059591, LOC130059592
+670 more
Copy number gain
See cases
GPathogenic
ADAD2, ATP2C2
+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
(Q59H +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
(E174A +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
(A320V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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
(S514N +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
(T558A +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
(R785C +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
ACSF3, ADAD2
+87 more
Copy number gain
not provided
GPathogenic
C16orf74, C16orf95
+25 more
Copy number loss
not provided
GPathogenic
COTL1, CRISPLD2
+2 more
Copy number gain
not provided
GUncertain significance
ACSF3, ADAD2
+150 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
AARS1, ABCC11
+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
Format
Items per page
Sort by
Choose Destination