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Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993633, LOC129993634
+532 more
Copy number loss
See cases
GPathogenic
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
ADAMTS16, ADAMTS16-DT
+478 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
LOC126807323, LOC126807324
+530 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+537 more
Copy number loss
See cases
GPathogenic
LOC132090721, LOC132090722
+556 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+542 more
Copy number gain
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
LOC112997550, LOC112997551
+462 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+473 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
+538 more
Copy number loss
See cases
GPathogenic
LOC129993643, LOC129993644
+521 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+461 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
ADAMTS16, ADAMTS16-DT
+461 more
Copy number loss
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
LOC129993721, LOC129993722
+334 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+530 more
Copy number gain
See cases
GPathogenic
LOC126807306, LOC126807307
+304 more
Copy number loss
See cases
GPathogenic
ANKH, ANKRD33B
+156 more
Copy number gain
See cases
GPathogenic
ANKH, BASP1
+123 more
Copy number loss
See cases
GPathogenic
ANKH, BASP1
+142 more
Copy number loss
See cases
GPathogenic
CTD-2350J17.1, FBXL7
+2 more
Copy number gain
See cases
Gconflicting data from submitters
CTD-2350J17.1, FBXL7
Copy number loss
See cases
GUncertain significance
CTD-2350J17.1, FBXL7
+1 more
Copy number loss
See cases
GUncertain significance
FBXL7
(H29R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FBXL7
(A34S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FBXL7
(P62L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7
(S26W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7
(S26L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7
(P91R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7
(R48C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7
(R95H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7
(W102R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7
(M140I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7
(I207V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(S208N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(A213T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(D234E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(H249Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(V320M +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FBXL7, LOC126807327
(S332N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(R288H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(R343W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(G361S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(R315Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(R322H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(Y370F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(G363S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL7, LOC126807327
(V449M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL36, MTRR
+70 more
Copy number gain
not provided
GPathogenic
ADAMTS16, ADCY2
+33 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+61 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+61 more
Copy number loss
not specified
GPathogenic
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
+48 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+62 more
Copy number loss
not provided
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
BASP1, RETREG1
+19 more
Copy number gain
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
GPathogenic
ADAMTS16, ADCY2
+69 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+66 more
Copy number loss
not provided
GPathogenic
FBXL7
Copy number gain
not provided
GUncertain significance
ADAMTS16, ADCY2
+61 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+71 more
Copy number loss
not provided
GPathogenic
ANKH, ANKRD33B
+23 more
Copy number loss
not provided
GPathogenic
FBXL7
Copy number gain
DiGeorge syndrome
GUncertain significance
ADAMTS16, ADCY2
+67 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number gain
5p partial monosomy syndrome
GPathogenic
ADAMTS16, ADCY2
+60 more
Copy number loss
not provided
GPathogenic
MARCHF11, MARCHF6
+67 more
Copy number loss
See cases
GPathogenic
LPCAT1, MYO10
+63 more
Copy number loss
5p partial monosomy syndrome
GPathogenic
ZNF622, MARCHF11
+3 more
Copy number gain
not provided
GUncertain significance
ADAMTS16, ADCY2
+63 more
Copy number loss
not provided
GPathogenic
ANKH, BASP1
+12 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
FBXL7, DAP
+14 more
Copy number loss
not provided
GPathogenic
RETREG1, ANKRD33B
+31 more
Copy number loss
not provided
GPathogenic
ADAMTS12, ADAMTS16
+90 more
Copy number gain
not provided
GPathogenic
ADAMTS16, ADCY2
+61 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+56 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADCY2
+63 more
Copy number loss
See cases
GPathogenic
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