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Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACER2, ACO1
+1005 more
Copy number gain
See cases
GPathogenic
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC132089671, LOC132089672
+1213 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
HRCT1, IFNA1
+1061 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+1119 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+882 more
Copy number gain
See cases
GPathogenic
LINC03026, LINC03041
+1366 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+484 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+458 more
Copy number gain
See cases
GPathogenic
LOC130001672, LOC130001673
+983 more
Copy number gain
See cases
GPathogenic
DMAC1, DMRT1
+898 more
Copy number gain
See cases
GPathogenic
LOC126860601, LOC126860602
+581 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+979 more
Copy number gain
See cases
GPathogenic
ADAMTSL1, AK3
+303 more
Copy number loss
See cases
GPathogenic
LINC03041, LINC03106
+898 more
Copy number gain
See cases
GPathogenic
AK3, BNC2
+290 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, AK3
+297 more
Copy number loss
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+538 more
Copy number gain
See cases
GPathogenic
LOC124210616, LOC124225047
+410 more
Copy number gain
See cases
GPathogenic
LOC126860576, LOC126860577
+897 more
Copy number gain
See cases
GPathogenic
LOC130001469, LOC130001470
+898 more
Copy number gain
See cases
GPathogenic
LOC126860553, LOC126860554
+280 more
Copy number loss
See cases
GPathogenic
LOC130001466, LOC130001467
+295 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+893 more
Copy number gain
See cases
GPathogenic
ADAMTSL1, AK3
+292 more
Copy number loss
See cases
GPathogenic
ACER2, ADAMTSL1
+461 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+273 more
Copy number loss
See cases
GPathogenic
ACER2, ADAMTSL1
+412 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+355 more
Copy number gain
See cases
GPathogenic
ERVFRD-3, FAM219A
+585 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+243 more
Copy number gain
See cases
GPathogenic
ADAMTSL1, BNC2
+67 more
Copy number loss
See cases
GPathogenic
BNC2, BNC2-AS1
+59 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, BNC2
+61 more
Copy number loss
See cases
GPathogenic
SNAPC3
(P9R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
SNAPC3
(T10M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC3
(S12G)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SNAPC3
(G16S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC3
(G23S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SNAPC3
(S62L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC3
(P67L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC3
(G73R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC3
(A76S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC3
(E99A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC3
(T145I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC3
(G165R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC3
(M204V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC3
(S243G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC3
(Y197F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC3
(Y214S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC3
(A265D +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC3
(I271V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
SNAPC3
(R272S +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC3
(V330A +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC3
(N341S +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC3
(A346P +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC3
(D375N +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC3
(Y352F +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC3
(Y349C +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PSIP1, SNAPC3
(T527A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PSIP1, SNAPC3
(E516D)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PSIP1, SNAPC3
(E516Q)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
PSIP1, SNAPC3
(E515G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
AK3, BRD10
+47 more
Copy number loss
not specified
GPathogenic
ABCA1, ABCA2
+769 more
Copy number gain
not specified
GPathogenic
ADAMTSL1, AK3
+57 more
Copy number loss
not specified
GPathogenic
CCDC171, CER1
+10 more
Copy number loss
not provided
GPathogenic
ACER2, ACO1
+188 more
Copy number gain
not provided
GPathogenic
AK3, BNC2
+49 more
Deletion
not provided
GPathogenic
PSIP1, SNAPC3
+1 more
Copy number gain
not provided
GUncertain significance
PSIP1, SNAPC3
Copy number loss
not provided
GUncertain significance
ACER2, ADAMTSL1
+15 more
Copy number gain
not provided
GUncertain significance
ANKS6, ANP32B
+596 more
Copy number gain
See cases
GPathogenic
FOXD4, PLGRKT
+199 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
ACER2, ACO1
+169 more
Copy number gain
MISSED ABORTION
GPathogenic
ADAMTSL1, BNC2
+38 more
Copy number loss
Chromosome 9p deletion syndrome
GPathogenic
ACER2, ACO1
+204 more
Copy number gain
Bradycardia
GPathogenic
ACER2, ACO1
+204 more
Copy number gain
Tetrasomy 9p
GPathogenic
ADAMTSL1, BNC2
+20 more
Copy number loss
not specified
GUncertain significance
RIGI, RLN1
+114 more
Copy number gain
not specified
GPathogenic
OR1L4, PTRH1
+768 more
Copy number gain
not specified
GPathogenic
CDKN2B-AS1, ABHD17B
+257 more
Copy number gain
not specified
GPathogenic
ACO1, IFNA8
+205 more
Copy number gain
not specified
GPathogenic
AK3, BNC2
+49 more
Copy number loss
not specified
GPathogenic
PSIP1, SNAPC3
Copy number loss
not provided
GUncertain significance
ADAMTSL1, AK3
+52 more
Copy number loss
Trigonocephaly
GPathogenic
BNC2, CCDC171
+7 more
Copy number loss
Chromosome 9p deletion syndrome
GPathogenic
AK3, BNC2
+51 more
Copy number loss
Chromosome 9p deletion syndrome
GPathogenic
TTC39B, SNAPC3
+1 more
Copy number gain
not provided
GUncertain significance
JAK2, KANK1
+213 more
Copy number gain
not provided
GPathogenic
TPD52L3, IL33
+51 more
Copy number loss
not provided
GPathogenic
IFNA16, NTRK2
+326 more
Inversion
Recurrent spontaneous abortion
+1 more
GLikely pathogenic
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