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Items: 1 to 100 of 129

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
+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
LINC02116, LINC02120
+696 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
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
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
SRD5A1
(A2V +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
SRD5A1
(V7M)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
SRD5A1
(A22T)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
SRD5A1
(C25R)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
SRD5A1
(A34G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SRD5A1, NSUN2
(A39G)
Single nucleotide variant
(synonymous variant +3 more)
not provided
GBenign
SRD5A1
(T34A)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
SRD5A1
(C46R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
SRD5A1
(A52V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SRD5A1
(A54T)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
SRD5A1
(W66C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
SRD5A1
(Y69C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SRD5A1
(L79V)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
SRD5A1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SRD5A1
(Q131R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SRD5A1
(Y141S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SRD5A1
(I153V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SRD5A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SRD5A1
(H123L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SRD5A1
(I124T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SRD5A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SRD5A1
(A146T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRPL36, MTRR
+70 more
Copy number gain
not provided
GPathogenic
ADAMTS16, ADCY2
+49 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+47 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+33 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+35 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
ADAMTS16, ADCY2
+48 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
NSUN2, SRD5A1
+1 more
Duplication
not provided
GUncertain significance
NSUN2, SRD5A1
+1 more
Deletion
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
+61 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+71 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+38 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADCY2
+48 more
Copy number loss
5p partial monosomy syndrome
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
CCT5, ADAMTS16
+27 more
Copy number loss
not provided
GPathogenic
SLC9A3, SRD5A1
+48 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+55 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+63 more
Copy number loss
not provided
GPathogenic
MED10, NSUN2
+2 more
Copy number gain
not provided
GUncertain significance
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