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Items: 1 to 100 of 207

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
LOC130062787, LOC130062788
+1005 more
Copy number gain
See cases
GPathogenic
LOC130062694, LOC130062695
+887 more
Copy number gain
See cases
GPathogenic
LINC01929, LINC02565
+879 more
Copy number gain
See cases
GPathogenic
LOC126862796, LOC126862797
+733 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+706 more
Copy number gain
See cases
GPathogenic
LOC130062613, LOC130062614
+664 more
Copy number loss
See cases
GPathogenic
LOC130062683, LOC130062684
+664 more
Copy number loss
See cases
GPathogenic
LOC129391005, LOC129391006
+644 more
Copy number loss
See cases
GPathogenic
LOC130062551, LOC130062552
+636 more
Copy number loss
See cases
GPathogenic
LOC126862818, LOC126862819
+636 more
Copy number gain
See cases
GPathogenic
LOC130062592, LOC130062593
+602 more
Copy number loss
See cases
GPathogenic
LOC130062765, LOC130062766
+572 more
Copy number loss
See cases
GPathogenic
LOC108281158, LOC110120868
+573 more
Copy number loss
See cases
GPathogenic
CTDP1-DT, CYB5A
+450 more
Copy number loss
See cases
GPathogenic
LOC132090499, LOC132090500
+200 more
Copy number gain
See cases
GLikely pathogenic
SERPINB13, SERPINB2
+436 more
Copy number loss
See cases
GPathogenic
LOC126862831, LOC130062709
+430 more
Deletion
Deletion of long arm of chromosome 18
GPathogenic
LOC130062750, LOC130062751
+430 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+429 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+426 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+373 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+348 more
Copy number gain
See cases
GPathogenic
ADNP2, ATP9B
+347 more
Copy number loss
See cases
GPathogenic
LOC112543433, LOC116276492
+320 more
Copy number loss
See cases
GPathogenic
CDH19, CDH7
+21 more
Copy number loss
See cases
GUncertain significance
CDH19, CDH7
+21 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+308 more
Copy number loss
See cases
GPathogenic
LOC130062769, LOC130062770
+302 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+302 more
Copy number loss
See cases
GPathogenic
LOC132090901, LOC132211114
+300 more
Copy number loss
See cases
GPathogenic
LOC126862830, LOC126862831
+299 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+297 more
Copy number loss
See cases
GPathogenic
CDH19
Copy number loss
See cases
GLikely benign
CDH19
Copy number loss
See cases
GUncertain significance
CDH19, LOC129391004
+2 more
Copy number gain
See cases
GLikely benign
CDH19
Copy number loss
See cases
GLikely benign
CDH19
Copy number loss
Premature ovarian failure
GBenign
CDH19
Copy number loss
See cases
GUncertain significance
ADNP2, ATP9B
+297 more
Copy number loss
See cases
GPathogenic
CDH19
(E752K)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
CDH19
(L736S)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
CDH19
(G727V)
Single nucleotide variant
(3 prime UTR variant +2 more)
CDH19-related disorder
GBenign
CDH19
(A712T)
Single nucleotide variant
(3 prime UTR variant +2 more)
CDH19-related disorder
GBenign
CDH19
(V688I)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
CDH19
(Y682F)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
CDH19
(A653D)
Single nucleotide variant
(3 prime UTR variant +2 more)
CDH19-related disorder
GBenign
CDH19
(G646S)
Single nucleotide variant
(3 prime UTR variant +2 more)
CDH19-related disorder
GLikely benign
CDH19
(N637D)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
CDH19
(Q624K)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
CDH19
(R621Q)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
CDH19
(L618F)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
CDH19
(I601M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDH19
Single nucleotide variant
(synonymous variant +2 more)
CDH19-related disorder
GBenign
CDH19
(G592A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDH19
(Q580R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDH19
(C573Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDH19
(L566F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDH19
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
CDH19
(P544L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDH19
(N515Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDH19
(Q486R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(A467V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(S453L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(N447S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(S411N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(I408V)
Single nucleotide variant
(missense variant +1 more)
CDH19-related disorder
GLikely benign
CDH19
Single nucleotide variant
(intron variant)
CDH19-related disorder
GLikely benign
CDH19
(T383S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CDH19
(E378A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(Q360R)
Single nucleotide variant
(missense variant +1 more)
CDH19-related disorder
GLikely benign
CDH19
(I357T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(S353F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(A352V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(M346T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(E343G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(E343Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(H339P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(N338I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(Q327H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(H326P)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CDH19
(L318F)
Single nucleotide variant
(missense variant +1 more)
CDH19-related disorder
GUncertain significance
CDH19
(T311S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(H309Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(I275L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(T271S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(E258K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(K245E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH19
(A235V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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