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Items: 1 to 100 of 175

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
LOC106799843, LOC106865369
+388 more
Copy number gain
See cases
GPathogenic
LOC106783508, LOC106799843
+271 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+332 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ABCC8
+917 more
Copy number gain
See cases
GPathogenic
BGLT3, A-GAMMA3'E
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
KRTAP5-6, KRTAP5-AS1
+129 more
Copy number loss
See cases
GPathogenic
ASCL2, C11orf21
+115 more
Copy number gain
See cases
GPathogenic
ASCL2, C11orf21
+83 more
Copy number loss
See cases
GUncertain significance
H19, H19-ICR
+9 more
Copy number gain
See cases
GBenign
ASCL2, C11orf21
+52 more
Copy number gain
See cases
GPathogenic
IGF2, INS-IGF2
+1 more
Copy number gain
See cases
GUncertain significance
ASCL2, C11orf21
+32 more
Copy number gain
See cases
GUncertain significance
IGF2, IGF2-AS
+2 more
Copy number gain
See cases
GUncertain significance
IGF2, INS-IGF2
(E174A +1 more)
Single nucleotide variant
(missense variant +1 more)
IGF2-related condition
GUncertain significance
IGF2, INS-IGF2
(E174fs +1 more)
Insertion
(frameshift variant +1 more)
Colorectal cancer
GPathogenic
IGF2, INS-IGF2
(E230fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(P229L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF2, INS-IGF2
(P173S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
IGF2, INS-IGF2
(G170fs +1 more)
Deletion
(frameshift variant +1 more)
not specified
GUncertain significance
IGF2, INS-IGF2
(G169W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
INS-IGF2, IGF2
(G225R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
(H168P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
INS-IGF2, IGF2
(A167S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IGF2, INS-IGF2
(D165E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IGF2, INS-IGF2
(Q164* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
IGF2, INS-IGF2
Deletion
(nonsense +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(R156H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
IGF2, INS-IGF2
(R212C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IGF2, INS-IGF2
(R210C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IGF2, INS-IGF2
(E147K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(E147Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
(V197M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
(H196Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INS-IGF2, IGF2
(G195V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(R138W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF2, INS-IGF2
(R138G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(R191C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(G129V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
IGF2, INS-IGF2
(R183L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
(Q124E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(W119* +1 more)
Single nucleotide variant
(nonsense +1 more)
Silver-Russell syndrome 3
GLikely pathogenic
INS-IGF2, IGF2
(R107S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INS-IGF2, IGF2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(P158L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
(P98L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
(T86N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(T82M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(E137fs +1 more)
Microsatellite
(frameshift variant +1 more)
Silver-Russell syndrome 3
GPathogenic
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IGF2, INS-IGF2
(A134T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IGF2, INS-IGF2
(D132fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
IGF2, INS-IGF2
(R73C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(C127Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(C71R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(V123I +1 more)
Single nucleotide variant
(missense variant +1 more)
Silver-Russell syndrome 3
GUncertain significance
INS-IGF2, IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
(I122fs +1 more)
Deletion
(frameshift variant +1 more)
Silver-Russell syndrome 3
GLikely pathogenic
IGF2, INS-IGF2
(R120C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
(R117C +1 more)
Single nucleotide variant
(missense variant +1 more)
IGF2-related condition
GUncertain significance
IGF2, INS-IGF2
(A112T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
(P111S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
Deletion
(intron variant)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IGF2, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GBenign
IGF2, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IGF2, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IGF2, INS-IGF2
Single nucleotide variant
(intron variant)
IGF2-related condition
GPathogenic
INS-IGF2, IGF2
Single nucleotide variant
(intron variant)
Silver-Russell syndrome 3
GPathogenic
IGF2, INS-IGF2
Insertion
(splice donor variant)
Silver-Russell syndrome 1
GPathogenic
IGF2, INS-IGF2
(G105S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IGF2, INS-IGF2
(L93fs +1 more)
Indel
(frameshift variant +1 more)
Silver-Russell syndrome 3
GPathogenic
IGF2, INS-IGF2
(E36* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
IGF2, INS-IGF2
(E36fs +1 more)
Deletion
(frameshift variant +1 more)
Silver-Russell syndrome 3
GLikely pathogenic
IGF2, INS-IGF2
(G34D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
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