U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993638, LOC129993639
+559 more
Copy number loss
See cases
GPathogenic
LOC129993741, LOC129993742
+553 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+561 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+697 more
Copy number loss
See cases
GPathogenic
LOC123497907, LOC123497908
+1445 more
Copy number gain
See cases
GPathogenic
MIR4458HG, MIR4635
+556 more
Copy number loss
See cases
GPathogenic
LOC129993539, LOC129993540
+559 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+561 more
Copy number loss
See cases
GPathogenic
LOC129993673, LOC129993674
+559 more
Copy number loss
See cases
GPathogenic
LOC123493263, LOC123493264
+606 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+642 more
Copy number gain
See cases
GPathogenic
LOC129993669, LOC129993670
+552 more
Copy number loss
See cases
GPathogenic
LOC129993547, LOC129993548
+574 more
Copy number loss
See cases
GPathogenic
CLPTM1L, CMBL
+953 more
Copy number gain
See cases
GPathogenic
LOC126807356, LOC128772262
+696 more
Copy number gain
See cases
GPathogenic
LOC129993840, LOC129993841
+952 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+657 more
Copy number loss
See cases
GPathogenic
LOC129993646, LOC129993647
+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)
Inborn genetic diseases
GUncertain significance
CDH10
(I681T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDH10
(Q74H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(E648D +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(V35I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
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
(Q538H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
CDH10
(A530V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
CDH10
(D481N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
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)
Inborn genetic diseases
GUncertain significance
CDH10
(I414T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GLikely benign
CDH10
(R358H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(R341Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(S340N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(K323N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(G313S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(K292E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(L276R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(V182I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CDH10
(I164T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(T159M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(G46D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH10
(M25V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
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
PRDM9, CDH12
+2 more
Copy number gain
Global developmental delay
+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
ADAMTS16, ADCY2
+67 more
Copy number loss
See cases
GPathogenic
ADAMTS12, AGXT2
+73 more
Copy number gain
See cases
GLikely pathogenic
ABLIM3, ACOT12
+738 more
Copy number loss
See cases
GPathogenic
FAT2, FAXDC2
+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
Format
Items per page
Sort by
Choose Destination