U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 83

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
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
ACSF3, ADAD2
+531 more
Copy number gain
See cases
GLikely pathogenic
ADAD2, CIBAR2
+203 more
Copy number loss
See cases
GPathogenic
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
LOC126862430, ZDHHC7
(P304R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862430, ZDHHC7
(K301R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862430, ZDHHC7
(F327Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862430, ZDHHC7
(V325A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862430, ZDHHC7
(P279L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862430, ZDHHC7
(P315S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862430, ZDHHC7
(R301Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862430, ZDHHC7
(E263D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(Q241L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(K150E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(A180S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(T114M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(G111E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(I85M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(G83R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(S79C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(F67Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(G45S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(R43C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(R38Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(R38W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(V35M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(E19D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(P15R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC7
(H6Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C16orf74, CIBAR2
+72 more
Copy number gain
See cases
GLikely benign
ACSF3, ADAD2
+87 more
Copy number gain
not provided
GPathogenic
C16orf74, C16orf95
+25 more
Copy number loss
not provided
GPathogenic
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
BANP, BCO1
+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
EMC8, CRISPLD2
+8 more
Copy number loss
not provided
GUncertain significance
ZCCHC14-DT, ZDHHC7
+20 more
Copy number loss
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
C16orf74, CIBAR2
+6 more
Copy number gain
not provided
GUncertain significance
COTL1, CRISPLD2
+4 more
Copy number loss
not provided
GUncertain significance
ACSF3, ADAD2
+83 more
Copy number gain
not provided
GPathogenic
CRISPLD2, CIBAR2
+2 more
Copy number loss
not provided
GUncertain significance
ACSF3, ADAD2
+103 more
Copy number gain
not provided
GPathogenic
ACSF3, ADAD2
+136 more
Copy number gain
not provided
GPathogenic
CA7, COG8
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
KCTD19, KIAA0513
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
CRISPLD2, KIAA0513
+2 more
Copy number loss
See cases
GLikely benign
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+57 more
Copy number gain
See cases
GLikely pathogenic
CIBAR2, CRISPLD2
+3 more
Copy number gain
See cases
GUncertain significance
AARS1, ACD
+292 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+87 more
Copy number gain
See cases
GLikely pathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+127 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+140 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ATXN1L, B3GNT9
+368 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ADGRG5, CFAP263
+324 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
ADAD2, ATP2C2
+27 more
Copy number loss
See cases
GLikely pathogenic
C16orf46, C16orf74
+150 more
Translocation
not provided
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination