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Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
LOC130001211, LOC130001212
+1690 more
Copy number gain
See cases
GPathogenic
LOC130001139, LOC130001140
+1686 more
Copy number gain
See cases
GPathogenic
LOC126860518, LOC126860519
+1552 more
Copy number gain
See cases
GPathogenic
LOC130000964, LOC130000965
+1531 more
Copy number gain
See cases
GPathogenic
LOC130000908, LOC130000909
+1406 more
Copy number gain
See cases
GPathogenic
LOC130001371, LOC130001372
+1329 more
Copy number gain
See cases
GPathogenic
LOC130001420, LOC130001421
+1204 more
Copy number gain
See cases
GPathogenic
LOC130001415, LOC130001416
+1067 more
Copy number gain
See cases
GPathogenic
LOC124188223, LOC124188224
+961 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
LOC130001144, LOC130001145
+745 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
CCN4, CHRAC1
+206 more
Copy number gain
See cases
GPathogenic
EPPK1, ERICD
+499 more
Copy number gain
See cases
GPathogenic
TOP1MT, TRAPPC9
+373 more
Copy number gain
See cases
GLikely pathogenic
ADCK5, ADGRB1
+375 more
Copy number gain
See cases
GLikely pathogenic
KCNK9
Duplication
(non-coding transcript variant)
Birk-Barel Intellectual Disability Dysmorphism Syndrome
GBenign
KCNK9
(K369*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
KCNK9
(S352R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KCNK9
(Y326C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9
(H325N)
Single nucleotide variant
(missense variant +1 more)
Birk-Barel syndrome
GUncertain significance
KCNK9
(S311*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GUncertain significance
KCNK9
(R310P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9
(Q305R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNK9
(R303C)
Single nucleotide variant
(missense variant +1 more)
Autism spectrum disorder
Gassociation
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KCNK9
(A288V)
Single nucleotide variant
(missense variant +1 more)
KCNK9-related disorder
GUncertain significance
KCNK9
(R283W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
KCNK9-related disorder
+1 more
GBenign/Likely benign
KCNK9
(R268H)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
KCNK9
(R255W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KCNK9
(A237D)
Single nucleotide variant
(missense variant +1 more)
Birk-Barel syndrome
GLikely pathogenic
KCNK9
(G236R)
Single nucleotide variant
(missense variant +1 more)
Birk-Barel syndrome
GPathogenic
KCNK9
(G236R)
Single nucleotide variant
(missense variant +1 more)
Birk-Barel syndrome
+1 more
GPathogenic
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
not specified
GBenign
KCNK9
(I200T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
KCNK9-related disorder
GLikely benign
KCNK9
(A189T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
KCNK9
(W184*)
Single nucleotide variant
(nonsense +1 more)
Developmental disorder
GUncertain significance
KCNK9
(W184*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
KCNK9
(W184G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9
(T170M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNK9
(M156T)
Single nucleotide variant
(missense variant +1 more)
Birk-Barel syndrome
GUncertain significance
KCNK9
(M156V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9
(S155C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
KCNK9-related disorder
GLikely benign
KCNK9
(C147R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9
(F135del)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
KCNK9
(R131P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNK9
(R131H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GLikely pathogenic
KCNK9
(R131C)
Single nucleotide variant
(missense variant +1 more)
Birk-Barel syndrome
+1 more
GConflicting classifications of pathogenicity
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
KCNK9-related disorder
+1 more
GBenign/Likely benign
KCNK9
(F125L)
Single nucleotide variant
(missense variant +1 more)
Birk-Barel syndrome
Gnot provided
KCNK9
(L122V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9
(G117V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNK9
(M111K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
KCNK9
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KCNK9
(K79E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9
(G75S)
Single nucleotide variant
(missense variant +1 more)
Birk-Barel syndrome
GUncertain significance
KCNK9
(R60Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KCNK9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KCNK9, LOC124188239
(R36H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9, LOC124188239
(L29R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC124188239, KCNK9
(D27A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNK9, LOC124188239
(T17N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC124188239, KCNK9
(L9V)
Single nucleotide variant
(missense variant +1 more)
Birk-Barel syndrome
+1 more
GConflicting classifications of pathogenicity
KCNK9, LOC124188239
(N5S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
MTBP, MTSS1
+173 more
Copy number gain
not provided
GPathogenic
SLA, TRAPPC9
+29 more
Copy number gain
Distal trisomy 8q
GPathogenic
TRAPPC9, COL22A1
+2 more
Duplication
not provided
GUncertain significance
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+285 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
FZD6, PCAT1
+236 more
Copy number gain
not provided
GPathogenic
ADCK5, ADCY8
+117 more
Copy number gain
not specified
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
COL22A1, FAM135B
+1 more
Copy number gain
not provided
GUncertain significance
C8orf17, COL22A1
+2 more
Copy number gain
not provided
GUncertain significance
ADCY8, AGO2
+25 more
Copy number gain
not provided
GUncertain significance
KCNK9, C8orf17
+1 more
Copy number gain
not provided
GUncertain significance
ADCK5, ADCY8
+119 more
Copy number gain
not provided
GPathogenic
ADCY8, ADGRB1
+39 more
Copy number loss
not provided
GPathogenic
ADGRB1, ADCY8
+155 more
Copy number gain
not provided
GPathogenic
ADCK5, ADCY8
+150 more
Copy number gain
not provided
GPathogenic
MICU3, MIR1234
+665 more
Copy number gain
not provided
GPathogenic
VPS13B, VPS28
+474 more
Copy number gain
not provided
GPathogenic
ADCK5, ADGRB1
+100 more
Copy number gain
not provided
GPathogenic
ADCK5, ADGRB1
+99 more
Copy number gain
not provided
GPathogenic
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