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Items: 1 to 100 of 302

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC111674474, LOC111674475
+2212 more
Copy number gain
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
LOC129999653, LOC129999654
+1380 more
Copy number gain
See cases
GPathogenic
C7orf33, CALD1
+1176 more
Copy number gain
See cases
GPathogenic
LOC129999666, LOC129999667
+1052 more
Copy number gain
See cases
GPathogenic
TMEM140, TMEM176A
+1046 more
Copy number gain
See cases
GPathogenic
LOC129999503, LOC129999504
+1025 more
Copy number gain
See cases
GPathogenic
LINC00996, LINC01003
+1025 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1019 more
Copy number gain
See cases
GPathogenic
WDR86, WDR86-AS1
+944 more
Copy number loss
See cases
GPathogenic
LOC129999526, LOC129999527
+908 more
Copy number gain
See cases
GPathogenic
AGAP3, AGK
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
DYNC2I1, EN2
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
LOC129999649, LOC129999650
+737 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+707 more
Copy number loss
See cases
GPathogenic
LOC129999755, LOC129999756
+573 more
Copy number loss
See cases
GPathogenic
LOC105375556, LOC105375589
+540 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+538 more
Copy number loss
See cases
GLikely pathogenic
ABCB8, ABCF2
+533 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+473 more
Copy number loss
See cases
GPathogenic
LOC126860247, LOC126860248
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+329 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+212 more
Copy number gain
See cases
GLikely pathogenic
LOC129999582, LOC129999583
+407 more
Copy number loss
See cases
GPathogenic
LOC129999632, LOC129999633
+375 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+351 more
Copy number loss
See cases
GPathogenic
ABCF2, ABCF2-H2BK1
+315 more
Copy number gain
See cases
GPathogenic
ACTR3B, BLACE
+271 more
Copy number loss
See cases
GPathogenic
RBM33, RBM33-DT
+226 more
Copy number loss
See cases
GPathogenic
ACTR3B, BLACE
+225 more
Copy number gain
See cases
GPathogenic
ACTR3B, BLACE
+190 more
Deletion
Autism
GLikely pathogenic
ACTR3B, BLACE
+207 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+205 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+204 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+205 more
Copy number loss
See cases
GPathogenic
DPP6
Copy number gain
See cases
GBenign
DPP6, LOC101929998
+1 more
Copy number gain
See cases
GLikely benign
DPP6, LOC101929998
+1 more
Copy number gain
See cases
GUncertain significance
LOC126860236, DPP6
+1 more
Copy number gain
See cases
GUncertain significance
DPP6
(C13*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 33
GUncertain significance
DPP6, LOC126860236
Copy number gain
See cases
GBenign
DPP6, LOC126860236
Deletion
Schizophrenia
GLikely pathogenic
DPP6, LOC101929998
+1 more
Copy number gain
See cases
GUncertain significance
DPP6
(I7V)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability, autosomal dominant 33
GUncertain significance
DPP6
(V16M)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
BLACE, CNPY1
+195 more
Copy number loss
See cases
GPathogenic
DPP6, LOC101929998
Deletion
Intellectual disability, autosomal dominant 33
GPathogenic
DPP6
Deletion
(intron variant)
not provided
GBenign
DPP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DPP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DPP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DPP6
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
DPP6
Deletion
(5 prime UTR variant +1 more)
not provided
GBenign
DPP6
(M1I)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability, autosomal dominant 33
GUncertain significance
DPP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DPP6
(A20T)
Single nucleotide variant
(missense variant +1 more)
Ventricular fibrillation, paroxysmal familial, 2
+1 more
GUncertain significance
DPP6
(G30S)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 33
GUncertain significance
DPP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DPP6
(G37C)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 33
GUncertain significance
DPP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DPP6
(P43A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DPP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DPP6
(P46S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DPP6
(R47L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
DPP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DPP6
(P53fs)
Deletion
(intron variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DPP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DPP6
Microsatellite
(inframe_insertion +1 more)
not provided
GLikely benign
DPP6
Microsatellite
(inframe_insertion +1 more)
not provided
GLikely benign
DPP6
(G62del)
Microsatellite
(inframe_deletion +1 more)
not provided
GLikely benign
DPP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DPP6
(G65C)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
DPP6
(G65V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
DPP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DPP6
(D76N)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
DPP6
(D76V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
DPP6
(E79K)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
DPP6
Deletion
(intron variant)
not provided
GBenign
DPP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DPP6
Duplication
(intron variant)
not provided
GBenign
DPP6, LOC101929998
Single nucleotide variant
(intron variant)
not provided
GBenign
DPP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DPP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DPP6
Copy number gain
See cases
GBenign
DPP6
Microsatellite
(intron variant)
not provided
GBenign
DPP6
Microsatellite
(intron variant)
not provided
GBenign
DPP6
Microsatellite
(intron variant)
not provided
GBenign
DPP6
Microsatellite
(intron variant)
not provided
GBenign
DPP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DPP6
Single nucleotide variant
(intron variant)
Ventricular fibrillation, paroxysmal familial, 2
+1 more
GPathogenic; risk factor
DPP6
Single nucleotide variant
(intron variant)
not provided
GBenign
BLACE, CNPY1
+193 more
Copy number loss
Holoprosencephaly 3
GPathogenic
DPP6
Single nucleotide variant
(splice acceptor variant +2 more)
Intellectual disability, autosomal dominant 33
GPathogenic
DPP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DPP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DPP6
(K66del +3 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
DPP6
(V133I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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