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Items: 1 to 100 of 526

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCC1
+851 more
Copy number gain
See cases
GPathogenic
ABCC1, ABCC6
+400 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+287 more
Copy number gain
See cases
GLikely pathogenic
LOC130058720, LOC130058721
+287 more
Copy number gain
See cases
GPathogenic
AQP8, ARHGAP17
+209 more
Copy number loss
See cases
GPathogenic
APOBR, AQP8
+280 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+233 more
Copy number gain
See cases
GLikely pathogenic
DCTPP1, DOC2A
+409 more
Copy number gain
See cases
GPathogenic
LOC130058732, LOC130058733
+504 more
Copy number gain
See cases
GPathogenic
C16orf82, GSG1L
+59 more
Copy number gain
See cases
GUncertain significance
ZNF747, ZNF747-DT
+378 more
Copy number gain
See cases
GPathogenic
KATNIP
Single nucleotide variant
(5 prime UTR variant)
not provided
GConflicting classifications of pathogenicity
KATNIP
Deletion
(intron variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KATNIP
(K8E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(E10fs)
Duplication
(frameshift variant)
See cases
GLikely pathogenic
KATNIP
(A9D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KATNIP
(E10K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KATNIP
(R17*)
Single nucleotide variant
(nonsense)
Joubert syndrome 26
+1 more
GPathogenic/Likely pathogenic
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GBenign
KATNIP
(D36Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
(R47Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
(S54G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
(E66D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(S70C)
Single nucleotide variant
(missense variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(synonymous variant)
KATNIP-related condition
+1 more
GLikely benign
KATNIP
(R85Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KATNIP
(F92fs)
Deletion
(frameshift variant)
Joubert syndrome 26
GLikely pathogenic
KATNIP
(R94K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(T99M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
(T102A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KATNIP
Single nucleotide variant
(intron variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
(R107Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(R112Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
(R120C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(R123W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(T124A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KATNIP
(R131C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(R132Q)
Single nucleotide variant
(missense variant)
KATNIP-related condition
GUncertain significance
KATNIP
Single nucleotide variant
(synonymous variant)
KATNIP-related condition
GLikely benign
KATNIP
(R148W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KATNIP
(E152K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(V155M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(E162D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(T168I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
(N172S)
Single nucleotide variant
(missense variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
(D202N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(Y204C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KATNIP
(D205V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KATNIP
(I207V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(D210Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
(R230H)
Single nucleotide variant
(missense variant)
not provided
GBenign
KATNIP
(P231S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KATNIP
(P232L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
KATNIP
(S234G)
Single nucleotide variant
(missense variant)
Joubert syndrome 26
GUncertain significance
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
(R251H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KATNIP
(S252F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KATNIP
(S270fs)
Deletion
(frameshift variant)
not provided
GPathogenic
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KATNIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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