U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 114

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
LOC129993559, LOC129993560
+384 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
ADAMTS16, ADAMTS16-DT
+443 more
Copy number loss
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
ADCY2, ANKRD33B
+112 more
Copy number loss
See cases
GPathogenic
ANKRD33B, ATPSCKMT
+113 more
Copy number loss
See cases
GPathogenic
ANKRD33B, ATPSCKMT
+70 more
Copy number gain
See cases
GUncertain significance
ANKH, ANKRD33B
+156 more
Copy number gain
See cases
GPathogenic
DAP
(Q98H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DAP
(H79Y)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
DAP
(P72L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DAP
(R65W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DAP
(K42R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DAP
(E39D)
Single nucleotide variant
(missense variant)
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
+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
ANKH, ANKRD33B
+15 more
Copy number loss
not provided
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
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
ADAMTS16, ADCY2
+61 more
Copy number loss
not provided
GPathogenic
DAP
Copy number gain
not provided
GUncertain significance
ADAMTS16, ADCY2
+71 more
Copy number loss
not provided
GPathogenic
ANKH, ANKRD33B
+23 more
Copy number loss
not provided
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
CTNND2, ANKRD33B
+1 more
Copy number gain
not provided
GUncertain significance
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
CTNND2, DAP
Copy number gain
not provided
GUncertain significance
ANKRD33B, ATPSCKMT
+6 more
Copy number gain
not provided
GUncertain significance
ADAMTS16, ADCY2
+67 more
Copy number loss
5p partial monosomy syndrome
GPathogenic
FBXL7, DAP
+14 more
Copy number loss
not provided
GPathogenic
ATPSCKMT, ADCY2
+19 more
Copy number gain
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
ROPN1L, ANKRD33B
+3 more
Duplication
not provided
GUncertain significance
ADAMTS16, ADCY2
+67 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADCY2
+63 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADCY2
+62 more
Copy number gain
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
ANKRD33B, ATPSCKMT
+6 more
Copy number gain
See cases
GLikely benign
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination