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Items: 1 to 100 of 211

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993645, LOC129993646
+419 more
Copy number loss
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
GPathogenic
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
+231 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
+384 more
Copy number loss
See cases
GPathogenic
LOC126807286, LOC126807287
+384 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
+388 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
+318 more
Copy number loss
See cases
GPathogenic
LOC129993559, LOC129993560
+384 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+538 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+272 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
ADAMTS16, ADAMTS16-DT
+226 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
ADAMTS16, ADAMTS16-DT
+227 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+443 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+300 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+231 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+657 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+161 more
Copy number gain
See cases
GPathogenic
LOC129993721, LOC129993722
+334 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+88 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+91 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+530 more
Copy number gain
See cases
GPathogenic
LOC126807306, LOC126807307
+304 more
Copy number loss
See cases
GPathogenic
ADAMTS16
(A5V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADAMTS16
(A34V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(A36S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ADAMTS16
(P48L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(P52R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16, LOC126807300
(M80V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16, LOC126807300
(R85Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16, LOC126807300
(E95G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16, LOC126807300
(R100Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16, LOC126807300
(D111Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16, LOC126807300
(S153T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16, LOC126807300
(H154Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(E174K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(R181G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(R181S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(P184S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(Q196R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(V203I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ADAMTS16
(P214A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(D237N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(R239C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(M256V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(Y271C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(R279C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(R279L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(H308R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS16
(G329A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADAMTS16
(S363N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(G371E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(M458I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(K481R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(Q487P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(P508S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(A514V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(W568R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
Deletion
(nonsense +1 more)
46,XY disorder of sex development
GLikely pathogenic
ADAMTS16
(R630H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(L632P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(R642Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(A653V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(Y682H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS16
(R719S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(V734I)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ADAMTS16
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADAMTS16
(P806S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(R808Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(S821A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
(T834N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS16
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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