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Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NIPBL
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
NIPBL
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NIPBL
(R45*)
Single nucleotide variant
(nonsense)
NIPBL-related condition
+2 more
GPathogenic
NIPBL
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
+3 more
GBenign/Likely benign
NIPBL
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
(A179T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NIPBL
(H198fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NIPBL
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NIPBL
(N233D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GPathogenic
NIPBL
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
(P288T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NIPBL
(D309fs)
Indel
(frameshift variant)
not provided
GPathogenic
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NIPBL
(N384S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
+1 more
GBenign/Likely benign
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NIPBL
(I486V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
Microsatellite
(intron variant)
not specified
+3 more
GBenign/Likely benign
NIPBL
(S509C)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NIPBL
(T528S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
(S611R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
(R629*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NIPBL
(E655D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
NIPBL
(K662R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NIPBL
(Q663P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
(N674S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
NIPBL
(E694G)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
+1 more
GUncertain significance
NIPBL
(T724I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
Deletion
(inframe_deletion)
not provided
GUncertain significance
NIPBL
(G740D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
(R765K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NIPBL
(R816H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
NIPBL
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
NIPBL
(R827fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
NIPBL
(R868*)
Single nucleotide variant
(nonsense)
NIPBL-related condition
+2 more
GPathogenic
NIPBL
(R868Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NIPBL
(D876fs)
Duplication
(frameshift variant)
not provided
GPathogenic
NIPBL
Single nucleotide variant
(synonymous variant)
NIPBL-related condition
+4 more
GBenign/Likely benign
NIPBL
(S915G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
(P982L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
NIPBL
(K1029*)
Duplication
(nonsense)
not provided
GPathogenic
NIPBL
(P1161S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
NIPBL
(A1220V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
NIPBL
(T1313K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
NIPBL
(V1441L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
NIPBL
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
NIPBL
(S1477R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NIPBL
(S1507L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
NIPBL
(V1525I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NIPBL
Deletion
(nonsense)
not provided
+1 more
GPathogenic
NIPBL
(R1636L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NIPBL
(S1701P)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NIPBL
(Y1750C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
(R1814*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
(K1929R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
NIPBL
Microsatellite
(intron variant)
not provided
+1 more
GBenign
NIPBL
Microsatellite
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
Microsatellite
(intron variant)
not specified
+1 more
GBenign
NIPBL
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
NIPBL
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
NIPBL
(K2022R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
(Q2028*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NIPBL
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
NIPBL
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
NIPBL
(E2052D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
(I2078del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
(A2108T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NIPBL
(E2186G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NIPBL
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
NIPBL
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPBL
(A2199P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
(L2234*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NIPBL
(W2255R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
Deletion
(intron variant)
not specified
+1 more
GBenign
NIPBL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NIPBL
(Y2349*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NIPBL
(C2392Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
NIPBL
(R2407*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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