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Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ASDURF
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
CCDC141, CERKL
+104 more
Copy number loss
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
CALCRL, CALCRL-AS1
+88 more
Copy number loss
See cases
GPathogenic
ANKAR, ASDURF
+191 more
Copy number loss
See cases
GPathogenic
NCKAP1
(A1128V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(T1131I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
Deletion
(nonsense)
Neurodevelopmental disorder
+2 more
GUncertain significance
NCKAP1
Duplication
(inframe_insertion)
not provided
GUncertain significance
NCKAP1
(Y1116N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(E1094* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency 72 with autoinflammation
GLikely pathogenic
NCKAP1
(N1080fs +1 more)
Deletion
(frameshift variant)
Autistic behavior
GPathogenic
NCKAP1
(L1066Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NCKAP1
Deletion
(inframe_deletion)
Inborn genetic diseases
GLikely pathogenic
NCKAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCKAP1
(R1054H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(I1051T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(N1027K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(I993V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(A965V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Single nucleotide variant
(synonymous variant)
NCKAP1-related disorder
GLikely benign
NCKAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCKAP1
Duplication
(intron variant)
NCKAP1-related disorder
GLikely benign
NCKAP1
(I939N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(I939V +1 more)
Single nucleotide variant
(missense variant)
NCKAP1-related disorder
GLikely benign
NCKAP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NCKAP1
(R925K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(A923T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCKAP1
(D901G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(V900I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(N826S +1 more)
Single nucleotide variant
(missense variant)
NCKAP1-related disorder
GUncertain significance
NCKAP1
(A813G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(R798* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NCKAP1
(L796S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(N790D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(S786R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(D777G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Q774K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(L776F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(N767D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Q758R +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GUncertain significance
NCKAP1
(V757M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Y746H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(S742R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NCKAP1
(S742T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(E732A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Q731* +1 more)
Single nucleotide variant
(nonsense)
Global developmental delay
GLikely pathogenic
NCKAP1
(G722V +1 more)
Indel
(missense variant)
not provided
GUncertain significance
NCKAP1
(R705* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NCKAP1
(M695I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Y691C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(N690S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(I689V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(S683F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCKAP1
(L678F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(M665I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(M665T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(K647N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(D632Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(Q621* +1 more)
Single nucleotide variant
(nonsense)
Autistic behavior
+1 more
GPathogenic
NCKAP1
Single nucleotide variant
(synonymous variant)
NCKAP1-related disorder
GLikely benign
NCKAP1
(S595C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
NCKAP1
(A568T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Y545N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Duplication
(intron variant)
NCKAP1-related disorder
GLikely benign
NCKAP1
(E535K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(M486I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(M460I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(D438E +1 more)
Single nucleotide variant
(missense variant)
NCKAP1-related disorder
GUncertain significance
NCKAP1
(V431L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NCKAP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NCKAP1
(M398L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(G362A +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GLikely benign
NCKAP1
(Q360E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Single nucleotide variant
(synonymous variant)
NCKAP1-related disorder
GBenign
NCKAP1
Single nucleotide variant
(synonymous variant)
NCKAP1-related disorder
GLikely benign
NCKAP1
Single nucleotide variant
(intron variant)
NCKAP1-related disorder
GBenign
NCKAP1
(C327R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NCKAP1
(E326K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(I324V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
Single nucleotide variant
(intron variant)
not specified
GBenign
NCKAP1
Single nucleotide variant
(intron variant)
NCKAP1-related disorder
GLikely benign
NCKAP1
(D309N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(S294F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(T275I +1 more)
Single nucleotide variant
(missense variant)
NCKAP1-related disorder
GUncertain significance
NCKAP1
(I272S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCKAP1
(H270R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(L268F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Display optionsSort by LocationDownload
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