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Items: 1 to 100 of 959

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063041, LOC130063042
+687 more
Copy number gain
See cases
GPathogenic
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
LOC130062818, LOC130062819
+332 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+321 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+429 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+301 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+453 more
Copy number gain
See cases
GLikely pathogenic
LOC130062906, LOC130062907
+222 more
Copy number loss
See cases
GPathogenic
ABHD17A, ADAMTSL5
+219 more
Copy number gain
See cases
GUncertain significance
ABHD17A, ADAT3
+387 more
Copy number loss
See cases
GPathogenic
ABHD17A, ADAT3
+362 more
Copy number gain
See cases
GPathogenic
TCF3
Single nucleotide variant
(3 prime UTR variant +1 more)
TCF3-related disorder
GLikely benign
TCF3
(M653I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(M653L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(H650P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF3
(G649R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF3
(A650T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF3
(P650S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(P649T +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TCF3
(N646H +2 more)
Single nucleotide variant
(missense variant)
TCF3-related disorder
+1 more
GUncertain significance
TCF3
(H645D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(A644G +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TCF3
(E645K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(S642R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF3
(S642R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF3
(P639R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(P641A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(P639L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF3
(L634I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(V636A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(Q631R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(P633L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(P630T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF3
(V628M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(G627D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(E620K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(R620L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(R621Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF3
(R619L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(R619W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(K618N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
(K619* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF3
(R608W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TCF3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
(G598R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF3
(G598R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
(A592V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF3
(Q591L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TCF3
(Q591*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 8, autosomal dominant
+1 more
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
(A582V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
(S579L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TCF3
(K578R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF3
(K578E)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TCF3
(L577F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF3
(H576Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TCF3
(M575L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
(M572V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF3
(R571H)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TCF3
(R571C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF3
(R567Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
TCF3
(R567W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TCF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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