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Items: 1 to 100 of 139

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060143, LOC130060144
+963 more
Copy number gain
See cases
GPathogenic
MIR6883, MIR744
+923 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+912 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC126862500, LOC126862501
+461 more
Copy number gain
See cases
GPathogenic
ALOX12B, ALOX15B
+191 more
Copy number loss
See cases
GPathogenic
ALOX12B, ALOX15B
+141 more
Deletion
Li-Fraumeni syndrome
GPathogenic
BORCS6, CHD3
+141 more
Deletion
Diamond-Blackfan anemia
+2 more
GPathogenic
LOC130060203, LOC130060204
+110 more
Copy number gain
See cases
GUncertain significance
LOC130060199, LOC130060200
+14 more
Deletion
(genic upstream transcript variant)
Intellectual disability
+29 more
GPathogenic
HES7, LOC130060203
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
HES7, LOC130060203
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
HES7, LOC130060203
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
HES7, LOC130060203
(P228S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
(P223A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7, LOC130060203
(G213R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7, LOC130060203
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7, LOC130060203
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7, LOC130060203
(P200L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
HES7, LOC130060203
(L202P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
(T194I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130060203, HES7
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HES7, LOC130060203
(P195A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7, LOC130060203
(D186Y +1 more)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 4, autosomal recessive
GPathogenic
HES7, LOC130060203
(A184V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7, LOC130060203
(S186Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
(L184P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7, LOC130060203
(P169L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HES7, LOC130060203
(G172A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HES7, LOC130060203
(Q166K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
(L163V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
(A151S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7, LOC130060203
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7, LOC130060203
Duplication
(inframe_insertion)
not provided
GUncertain significance
HES7, LOC130060203
(P149A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7, LOC130060203
(D142Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HES7, LOC130060203
(P135R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
(K134N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7, LOC130060203
Deletion
(inframe_deletion)
not provided
GUncertain significance
HES7
(R132fs +1 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
HES7
(R137G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
(P136S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HES7
(P135S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
HES7
(P128H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7
(R127L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HES7
(R127C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
(Y125C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HES7
(Y125S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7
(H123R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
(L122R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7
(A121G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
(P117Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7
(A104E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7
(S99F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HES7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
HES7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HES7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HES7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HES7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HES7
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HES7
(P75R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HES7
(S70R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
(Y65H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HES7
(A62T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
(A62S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
(E60K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
HES7
(I58R)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 4, autosomal recessive
+1 more
GUncertain significance
HES7
(I58V)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 4, autosomal recessive
GPathogenic
HES7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7
(N47K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HES7
Single nucleotide variant
(intron variant)
not provided
GBenign
HES7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HES7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HES7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HES7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HES7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HES7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HES7
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
HES7
(L40P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HES7
(R30S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HES7
(N29S)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 4, autosomal recessive
GLikely pathogenic
HES7
(R25W)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 4, autosomal recessive
GPathogenic
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