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Items: 84

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
LINC02894, LINC02906
+1960 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
AARD, ABRA
+1152 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
CCN3, CCN4
+558 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC130001053, LOC130001054
+285 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
CASC11, CASC19
+46 more
Copy number gain
See cases
GPathogenic
MYC
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
MYC
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
MYC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYC
Single nucleotide variant
(intron variant)
not provided
GBenign
MYC
Single nucleotide variant
(intron variant)
not provided
GBenign
MYC
(F21L +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
MYC
(N25S +1 more)
Single nucleotide variant
(missense variant)
Classic Hodgkin lymphoma
+1 more
GConflicting classifications of pathogenicity
MYC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYC
(E54D +1 more)
Single nucleotide variant
(missense variant)
Burkitt lymphoma
GPathogenic
MYC
(P57S +1 more)
Single nucleotide variant
(missense variant)
Neoplasm
GLikely pathogenic
MYC
(P58L +1 more)
Single nucleotide variant
(missense variant)
Lung adenocarcinoma
+4 more
GLikely pathogenic
MYC
(A59V +1 more)
Single nucleotide variant
(missense variant)
Neoplasm
GLikely pathogenic
MYC
(P72S +1 more)
Single nucleotide variant
(missense variant)
Burkitt lymphoma
GPathogenic
MYC
(T72A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
OOncogenic
MYC
(T73P +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+4 more
GLikely pathogenic
MYC
(T73I +1 more)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
+5 more
GLikely pathogenic
MYC
(P74A +1 more)
Single nucleotide variant
(missense variant)
Cholesteatoma of middle ear
Gother
MYC
(P74T +1 more)
Single nucleotide variant
(missense variant)
Cholesteatoma of middle ear
Gother
MYC
(S77F +1 more)
Single nucleotide variant
(missense variant)
Neoplasm
GLikely pathogenic
MYC
(N101T +1 more)
Single nucleotide variant
(missense variant)
Neoplasm
+1 more
GPathogenic/Likely pathogenic
MYC
(E137Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYC
Single nucleotide variant
(synonymous variant)
MYC-related disorder
GLikely benign
MYC
(V159I +1 more)
Single nucleotide variant
(missense variant)
Premature ovarian failure
GUncertain significance
MYC
(A223V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYC
Single nucleotide variant
(synonymous variant)
MYC-related disorder
GBenign
MYC
(P260A +1 more)
Single nucleotide variant
(missense variant)
Neoplasm
GLikely pathogenic
MYC
(S302R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYC
(S361F +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
MYC
(I410V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYC
(D432H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY8, ANXA13
+51 more
Copy number loss
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
OPLAH, PARP10
+173 more
Copy number gain
not provided
GPathogenic
ANXA13, FAM91A1
+19 more
Copy number gain
Distal trisomy 8q
GPathogenic
AARD, ADCY8
+63 more
Copy number loss
not provided
GPathogenic
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
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
MYC, PVT1
Copy number gain
not provided
GLikely benign
ADCY8, ADGRB1
+39 more
Copy number loss
not provided
GPathogenic
ADGRB1, ADCY8
+155 more
Copy number gain
not provided
GPathogenic
MYC
Copy number gain
not provided
GLikely pathogenic
ADCK5, ADCY8
+150 more
Copy number gain
not provided
GPathogenic
MICU3, MIR1234
+665 more
Copy number gain
not provided
GPathogenic
ADCY8, ANXA13
+43 more
Copy number loss
not provided
GPathogenic
VPS13B, VPS28
+474 more
Copy number gain
not provided
GPathogenic
ANXA13, ASAP1
+31 more
Copy number loss
not provided
GPathogenic
ADCK5, ADCY8
+132 more
Copy number gain
not provided
GPathogenic
PCAT1, POU5F1B
+52 more
Deletion
Trichorhinophalangeal dysplasia type I
GPathogenic
ADCK5, ADCY8
+151 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+277 more
Copy number gain
See cases
GPathogenic
KCNQ3, KCNS2
+593 more
Copy number gain
See cases
GPathogenic
AARD, ADCK5
+172 more
Copy number gain
See cases
GPathogenic
PPDPFL, PPP1R16A
+665 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
RRM2B, SLC30A8
+160 more
Copy number gain
See cases
GPathogenic
SLC45A4, SLC7A13
+189 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+228 more
Copy number gain
See cases
GPathogenic
CLDN23, LONRF1
+665 more
Copy number gain
See cases
GPathogenic
ADCY8, ASAP1
+10 more
Copy number loss
See cases
GLikely pathogenic
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