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Items: 1 to 100 of 382

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933244, LOC129933245
+653 more
Copy number gain
See cases
GPathogenic
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
LOC129933186, LOC129933187
+736 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
TRY-GTA2-1, UBXN2A
+321 more
Copy number loss
See cases
GPathogenic
NCOA1
Single nucleotide variant
(5 prime UTR variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(G5R)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(D6G)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(D10N)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(P11S)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(H17Q)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(T26P)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(A28P)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(intron variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(intron variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(K33E)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(R35H)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(L49*)
Single nucleotide variant
(nonsense)
NCOA1-related disorder
GUncertain significance
NCOA1
(I54M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
(S55T)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(K68Q)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(D75N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(V94I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(V127fs)
Deletion
(frameshift variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(T141S)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(T154I)
Indel
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(S155C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(V162M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(T188S)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(H193R)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(P203S)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(R217C)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(R217H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCOA1
Single nucleotide variant
(intron variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(Y309N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GBenign
NCOA1
(R320C)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(R329K)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(I331V)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(S339T)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(P349T)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(M354L)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(P356T)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(D365N)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(intron variant)
NCOA1-related disorder
GLikely benign
NCOA1
(L371P)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(P373S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
(T377P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
(T377N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
(N378K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
(R385G)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(R385Q)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(I394V)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(S395C)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(R402H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
(T416S)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(R420C)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(R420H)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(D425E)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(L426F)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
NCOA1
(H427P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA1
Single nucleotide variant
(synonymous variant)
NCOA1-related disorder
GLikely benign
NCOA1
(H431P)
Single nucleotide variant
(missense variant)
NCOA1-related disorder
GUncertain significance
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