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Items: 1 to 100 of 1108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
LOC111822949, LOC112272574
+664 more
Copy number gain
See cases
GPathogenic
LOC130057971, LOC130057972
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
LOC130057962, LOC130057963
+517 more
Copy number gain
See cases
GPathogenic
LOC130058025, LOC130058026
+500 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+228 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+224 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+205 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+218 more
Copy number gain
See cases
GPathogenic
LOC130058035, LOC130058036
+202 more
Copy number loss
See cases
GPathogenic
LOC126862250, LOC126862251
+203 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+201 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+195 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+185 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS17, ALDH1A3
+179 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+174 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ARRDC4
+111 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS17, ALDH1A3
+171 more
Copy number loss
See cases
GPathogenic
IGF1R, IRAIN
+48 more
Copy number gain
See cases
GUncertain significance
IGF1R, IRAIN
+24 more
Copy number gain
See cases
GUncertain significance
ADAMTS17, ALDH1A3
+165 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+159 more
Copy number loss
See cases
GPathogenic
IGF1R, IRAIN
Deletion
(5 prime UTR variant +1 more)
Growth delay due to insulin-like growth factor I resistance
GBenign/Likely benign
IGF1R, IRAIN
Single nucleotide variant
(non-coding transcript variant +1 more)
Growth delay due to insulin-like growth factor I resistance
GBenign
IGF1R, IRAIN
Single nucleotide variant
(non-coding transcript variant +1 more)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R, IRAIN
Single nucleotide variant
(non-coding transcript variant +1 more)
IGF1R-related condition
+1 more
GUncertain significance
IGF1R, IRAIN
(M1K)
Single nucleotide variant
(non-coding transcript variant +2 more)
Growth delay due to insulin-like growth factor I resistance
GLikely pathogenic
IRAIN, IGF1R
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
IGF1R, IRAIN
(G6R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
IGF1R, IRAIN
(P10S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IGF1R, IRAIN
(S12W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF1R, IRAIN
(L16fs)
Deletion
(non-coding transcript variant +1 more)
not provided
GPathogenic
IGF1R, IRAIN
(G15R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R, IRAIN
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
IGF1R, IRAIN
(L19F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IGF1R, IRAIN
(S20F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IGF1R, IRAIN
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
IRAIN, IGF1R
(S24W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
IGF1R, IRAIN
(S24L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
IGF1R, IRAIN
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
IGF1R, IRAIN
(W26*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neurodevelopmental disorder
GLikely pathogenic
IGF1R, IRAIN
(P27L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IGF1R, IRAIN
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IGF1R, IRAIN
Deletion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IGF1R, IRAIN
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
IGF1R, IRAIN
Microsatellite
(non-coding transcript variant +1 more)
not provided
GLikely benign
IGF1R, IRAIN
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign
IGF1R, IRAIN
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
IGF1R, LOC110121464
+5 more
Copy number gain
See cases
GLikely pathogenic
IGF1R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IGF1R
Microsatellite
(intron variant)
not provided
GLikely benign
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
(G34R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(R40C)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GLikely pathogenic
IGF1R
(R40H)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(R40L)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
Gprotective
IGF1R
Single nucleotide variant
(synonymous variant)
IGF1R-related condition
GLikely benign
IGF1R
(E50*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
IGF1R
(I64V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
(Y70D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
(R71H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
IGF1R
(T79M)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IGF1R
(T82I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
Single nucleotide variant
(synonymous variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(R89*)
Single nucleotide variant
(nonsense)
Growth delay due to insulin-like growth factor I resistance
Gprotective
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
(E94K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
(G97R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
(L99H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
(P101L)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IGF1R
(R107H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
(G108fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
(F120V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
(E121K)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GLikely pathogenic
IGF1R
(N124H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
(D127N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
(I128V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGF1R
Single nucleotide variant
(synonymous variant)
Growth delay due to insulin-like growth factor I resistance
GPathogenic
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