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Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993624, LOC129993625
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+553 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
LOC129993561, LOC129993562
+552 more
Copy number loss
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
CDH10, CDH12
+42 more
Copy number loss
See cases
GBenign
CDH10, LINC02211
+13 more
Copy number loss
See cases
GPathogenic
CDH10, LINC02211
+9 more
Copy number loss
See cases
GUncertain significance
CDH10
(R172Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH10
(L154P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH10
(I150V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH10
(I690V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH10
(I681T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDH10
(Q74H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH10
(E648D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDH10
(V35I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH10
(I33T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDH10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDH10
(N594S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
CDH10
(I584V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CDH10
(Q538H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CDH10
(A530V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CDH10
(T509A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CDH10
(D481N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
CDH10
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CDH10
(N465S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
CDH10
(I418S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(I414T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
CDH10
(R358H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(R341Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(S340N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(K323N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(G313S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(R307Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(K300R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(K292E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(V278L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(L276R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(R268C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(P213A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(V182I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CDH10
(Y165C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(I164T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(T159M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(G46D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(V41I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CDH10
(M25V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MRPL36, MTRR
+70 more
Copy number gain
not provided
GPathogenic
CDH10, CDH12
+2 more
Copy number gain
not specified
GUncertain significance
ADAMTS16, ADCY2
+66 more
Copy number loss
not specified
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
+66 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
MARCHF11, MARCHF6
+67 more
Copy number loss
See cases
GPathogenic
CDH9, LINC02899
+4 more
Copy number gain
not provided
GUncertain significance
CDH12, CDH10
+2 more
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
CDH10, CDH12
+2 more
Copy number gain
Hypermetropia
+4 more
GUncertain significance
ADAMTS16, ADCY2
+67 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADCY2
+66 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADCY2
+66 more
Copy number loss
See cases
GPathogenic
CTNND2, DAP
+67 more
Copy number loss
See cases
GPathogenic
ADAMTS12, AGXT2
+73 more
Copy number gain
See cases
GLikely pathogenic
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
ADAMTS16, ADCY2
+66 more
Copy number loss
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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