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Items: 1 to 100 of 692

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPAT5, ANGPT2
+380 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC126860273, LOC126860274
+49 more
Copy number loss
See cases
GPathogenic
LOC129999788, LOC129999789
+126 more
Copy number gain
See cases
GPathogenic
ARHGEF10, CLN8
+74 more
Copy number loss
See cases
GLikely pathogenic
AGPAT5, ANGPT2
+126 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+126 more
Copy number gain
See cases
GUncertain significance
LOC130000015, LOC130000016
+3658 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+126 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+126 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+126 more
Copy number loss
See cases
GPathogenic
ARHGEF10, CLN8
+68 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+255 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+393 more
Copy number gain
See cases
GPathogenic
DEFA1B, DEFA3
+3658 more
Copy number gain
See cases
GPathogenic
ARHGEF10, CLN8
+69 more
Copy number loss
See cases
GUncertain significance
AGPAT5, ANGPT2
+448 more
Copy number gain
See cases
GPathogenic
LOC129999850, LOC129999851
+1038 more
Copy number gain
See cases
GPathogenic
ARHGEF10, CLN8
+48 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+126 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+126 more
Copy number loss
See cases
GPathogenic
ARHGEF10, CLN8
+59 more
Copy number loss
See cases
GUncertain significance
AGPAT5, ANGPT2
+172 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+393 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+1103 more
Copy number gain
See cases
GPathogenic
ARHGEF10, CLN8
+66 more
Copy number loss
See cases
GLikely pathogenic
AGPAT5, ANGPT2
+166 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+166 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+123 more
Copy number loss
See cases
GPathogenic
FAM90A24, FAM90A3
+256 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+124 more
Copy number loss
See cases
GPathogenic
ARHGEF10, CLN8
+64 more
Copy number loss
See cases
GPathogenic
LOC126860290, LOC126860291
+687 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+273 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+123 more
Copy number gain
See cases
GPathogenic
ARHGEF10, CLN8
+64 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+253 more
Copy number loss
See cases
GPathogenic
ARHGEF10, CLN8
+66 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+124 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+471 more
Copy number gain
See cases
GPathogenic
LOC110121192, LOC110121196
+3656 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3652 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+166 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+123 more
Copy number loss
See cases
GPathogenic
LOC129999981, LOC129999982
+996 more
Copy number gain
See cases
GPathogenic
LOC130000067, LOC130000068
+3656 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+736 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+123 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+123 more
Copy number gain
See cases
GPathogenic
ARHGEF10, CLN8
+46 more
Copy number loss
See cases
GPathogenic
ARHGEF10, CLN8
+46 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+135 more
Copy number loss
See cases
GPathogenic
LOC129999854, LOC129999889
+720 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
AGPAT5, ANGPT2
+161 more
Copy number gain
See cases
GBenign
ARHGEF10, CLN8
+7 more
Copy number loss
See cases
GPathogenic
CLN8, CLN8-AS1
Deletion
(splice donor variant)
not provided
GUncertain significance
CLN8, CLN8-AS1
Deletion
(splice donor variant)
Neuronal ceroid lipofuscinosis 8
GUncertain significance
CLN8, CLN8-AS1
Duplication
(splice donor variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8, CLN8-AS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
CLN8, CLN8-AS1
Single nucleotide variant
(5 prime UTR variant)
not specified
GBenign
CLN8, CLN8-AS1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
CLN8, CLN8-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
CLN8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLN8
Single nucleotide variant
(intron variant)
not provided
GBenign
CLN8
Single nucleotide variant
(intron variant)
not provided
GBenign
CLN8
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
CLN8
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 8
GUncertain significance
CLN8
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CLN8
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CLN8
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CLN8
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CLN8
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CLN8
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
CLN8
Single nucleotide variant
(5 prime UTR variant)
not specified
GBenign
CLN8
Duplication
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
Deletion
Neuronal ceroid lipofuscinosis
GPathogenic
CLN8
Deletion
Neuronal ceroid lipofuscinosis
GPathogenic
CLN8
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
CLN8
(M1L)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis
GPathogenic
CLN8
(M1V)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic
CLN8
(M1T)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(N2S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(P3S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
(A4V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
(S5R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CLN8
(D6N)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(D6Y)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(D6H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8
(D6G)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+4 more
GUncertain significance
CLN8
(D6E)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(D6E)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
(G7R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(G7A)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
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