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Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993624, LOC129993625
+559 more
Copy number loss
See cases
GPathogenic
LOC129993692, LOC129993693
+561 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+697 more
Copy number loss
See cases
GPathogenic
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
LOC132090721, LOC132090722
+556 more
Copy number loss
See cases
GPathogenic
LOC108254683, LOC110120635
+559 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+561 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+606 more
Copy number loss
See cases
GPathogenic
LOC126807328, LOC126807329
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+642 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+574 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+953 more
Copy number gain
See cases
GPathogenic
LINC02116, LINC02120
+696 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+657 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+530 more
Copy number gain
See cases
GPathogenic
CDH9, LOC129389261
+2 more
Copy number gain
See cases
GPathogenic
CDH9, LOC129389261
+1 more
Copy number gain
See cases
GLikely benign
CDH9, LOC129389262
+1 more
Copy number gain
See cases
GUncertain significance
CDH9
(D785G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(D779V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(R773L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(R773H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(D763N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(E741Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CDH9
(E722Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(Q713H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(W707G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(I674V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(D661N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(N660S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(K637M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(G610V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(E603G)
Single nucleotide variant
(missense variant)
not provided
GBenign
CDH9
(N573D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(F571V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(P567L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(R552Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(R519Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(F495L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDH9
(S470N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(T459K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(A412S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(T384A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(K371T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(Y343C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(D336N)
Single nucleotide variant
(missense variant)
not provided
GBenign
CDH9
(D317E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(Y305D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH9
(T257K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(V235A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(I201V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(N190S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(I147V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(M47K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(T41I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(S34N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(Y14C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH9
(T13N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL36, MTRR
+70 more
Copy number gain
not provided
GPathogenic
ADAMTS16, ADCY2
+38 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number loss
not provided
GPathogenic
ADAMTS12, ADAMTS16
+89 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number gain
not provided
GPathogenic
ADAMTS16, ADCY2
+69 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+71 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number gain
5p partial monosomy syndrome
GPathogenic
ADAMTS12, AGXT2
+72 more
Copy number gain
not specified
GPathogenic
CDH9
Copy number gain
not provided
GLikely benign
MARCHF11, MARCHF6
+67 more
Copy number loss
See cases
GPathogenic
CDH9, LINC02899
+4 more
Copy number gain
not provided
GUncertain significance
CDH9
Copy number loss
not provided
GUncertain significance
CDH9
Copy number gain
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
ADAMTS16, ADCY2
+67 more
Copy number loss
5p partial monosomy syndrome
GPathogenic
CDH12, CDH10
+3 more
Copy number gain
not provided
GUncertain significance
ADAMTS12, ADAMTS16
+90 more
Copy number gain
not provided
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number loss
See cases
GPathogenic
CDH9
Copy number loss
See cases
GUncertain significance
CTNND2, DAP
+67 more
Copy number loss
See cases
GPathogenic
ADAMTS12, AGXT2
+73 more
Copy number gain
See cases
GLikely pathogenic
CDH9
Copy number loss
See cases
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+82 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADCY2
+39 more
Copy number gain
See cases
GPathogenic
RXFP3, GDNF
+89 more
Copy number gain
See cases
GPathogenic
AHRR, ADAMTS12
+82 more
Copy number gain
See cases
GPathogenic
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