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Items: 1 to 100 of 818

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862722, LOC126862723
+1646 more
Copy number gain
See cases
GPathogenic
LINC00683, LINC00907
+1643 more
Copy number gain
See cases
GPathogenic
DTNA, DYM
+1643 more
Copy number gain
See cases
GPathogenic
LINC01478, LINC01538
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062393, LOC130062394
+1643 more
Copy number gain
See cases
GPathogenic
RNF138, RNF152
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062575, LOC130062576
+1643 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+378 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+282 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+204 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1266 more
Copy number gain
See cases
GPathogenic
SKA1, SKOR2
+1089 more
Copy number gain
See cases
GPathogenic
LOC130062446, LOC130062447
+1266 more
Copy number gain
See cases
GPathogenic
CDH2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CDH2
Single nucleotide variant
(3 prime UTR variant)
CDH2-related condition
GLikely benign
CDH2
(D875fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
CDH2
(D874N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
CDH2
(G872R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH2
(K865R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH2
(R893Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
(P861S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH2
(G860W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
(W859L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
(D858N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CDH2
(N857K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
CDH2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH2
(D852N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH2
(E850K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
(G880A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
(G848S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
(S846N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
(S877T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH2
(N874T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
(L873V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH2
(S841C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH2
(S869P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
(G837E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CDH2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH2
(T866N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
(S834C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH2
(G833D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH2
(S832C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
(L825fs +1 more)
Duplication
(frameshift variant)
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
+3 more
GPathogenic/Likely pathogenic
CDH2
(L824fs +1 more)
Deletion
(frameshift variant)
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
+3 more
GPathogenic/Likely pathogenic
CDH2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
CDH2
(Y852C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH2
(P819L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
(P819S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CDH2
(N814S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CDH2
(A812V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
CDH2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
CDH2
(A811V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
(A811T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH2
Single nucleotide variant
(intron variant)
not provided
GBenign
CDH2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
CDH2
(N806I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
(F804L +1 more)
Single nucleotide variant
(missense variant)
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
+2 more
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
CDH2
(G833E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CDH2
(G802R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
(I801T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CDH2
(G799E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
(P798L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
(P798R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
(H797R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
CDH2
(A795P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
(R792Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CDH2
(R792* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CDH2
(V822A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
CDH2
(P821L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CDH2
(P787L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
(E817K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDH2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
CDH2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDH2
(A816T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH2
(H784Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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