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Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGAP15, ARHGAP15-AS1
+75 more
Copy number loss
See cases
GPathogenic
ARHGAP15, ARHGAP15-AS1
+50 more
Copy number loss
See cases
GPathogenic
KYNU, LOC111556162
+11 more
Copy number gain
See cases
GUncertain significance
ACVR2A, ARHGAP15
+57 more
Copy number loss
See cases
GPathogenic
ARHGAP15, KYNU
+6 more
Copy number gain
See cases
GLikely benign
KYNU, LOC126806361
+1 more
Deletion
Catel-Manzke syndrome
GPathogenic
KYNU
(P9L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(R15H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
Single nucleotide variant
(synonymous variant)
KYNU-related disorder
+1 more
GLikely benign
KYNU
(T25M)
Single nucleotide variant
(missense variant)
not provided
GBenign
KYNU
(V29M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(H41Y)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KYNU
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KYNU
(R43G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(I48F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
Single nucleotide variant
(splice acceptor variant)
Congenital NAD deficiency disorder
GPathogenic
KYNU
(V57A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KYNU
(N67D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(Y86fs)
Duplication
(frameshift variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
+1 more
GPathogenic/Likely pathogenic
KYNU
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KYNU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KYNU
(W109S)
Single nucleotide variant
(missense variant)
Catel-Manzke syndrome
GPathogenic
KYNU
(K121del)
Deletion
(inframe_deletion)
Vertebral, cardiac, renal, and limb defects syndrome 2
+1 more
GPathogenic/Likely pathogenic
KYNU
Deletion
(splice donor variant)
KYNU-related disorder
GLikely pathogenic
KYNU
Deletion
(splice acceptor variant +1 more)
Vertebral, cardiac, renal, and limb defects syndrome 2
GPathogenic
KYNU
Single nucleotide variant
(splice acceptor variant)
not provided
Gnot provided
KYNU
(T152M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KYNU
(Y156*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
KYNU
(A164fs)
Deletion
(frameshift variant)
Congenital NAD deficiency disorder
GPathogenic
KYNU
(Y170*)
Single nucleotide variant
(nonsense)
KYNU-related disorder
GLikely pathogenic
KYNU
(E173G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(R188W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(R188Q)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
+1 more
GUncertain significance
KYNU
(P192A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KYNU
(T198A)
Single nucleotide variant
(missense variant)
Hydroxykynureninuria
GPathogenic
KYNU
(I201V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(E206K)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
+1 more
GPathogenic/Likely pathogenic
KYNU
(V217A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(A242V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
Single nucleotide variant
(intron variant)
not provided
GBenign
KYNU
(G244V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KYNU
(C245W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(H253R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KYNU
(V255A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(V258A)
Single nucleotide variant
(missense variant)
Hydroxykynureninuria
GLikely pathogenic
KYNU
(H263R)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
+1 more
GPathogenic
KYNU
(Y275*)
Single nucleotide variant
(nonsense)
KYNU-related disorder
GLikely pathogenic
KYNU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KYNU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KYNU
(A282V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(F289L)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
GUncertain significance
KYNU
Single nucleotide variant
(splice donor variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
GLikely pathogenic
KYNU
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
KYNU
(M316V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
Single nucleotide variant
(intron variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
+1 more
GBenign
KYNU
(I323fs)
Deletion
(frameshift variant)
not provided
GPathogenic
KYNU
(R330Q)
Single nucleotide variant
(missense variant)
Catel-Manzke syndrome
GPathogenic
KYNU
(S345R)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
+1 more
GPathogenic/Likely pathogenic
KYNU
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KYNU
(F349fs)
Deletion
(frameshift variant)
Congenital NAD deficiency disorder
+2 more
GPathogenic
KYNU
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KYNU
(R358Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(I390V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(P393L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(L403I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
(N411S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KYNU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KYNU
(R428W)
Single nucleotide variant
(missense variant)
Catel-Manzke syndrome
+1 more
GPathogenic/Likely pathogenic
KYNU
(V435M)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
GUncertain significance
ACMSD, ACVR2A
+26 more
Copy number gain
not specified
GLikely pathogenic
KYNU
Copy number gain
not specified
GUncertain significance
ARHGAP15, GTDC1
+3 more
Copy number loss
not provided
GPathogenic
KYNU
Copy number gain
not provided
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPB41L5, ERCC3
+120 more
Copy number gain
2q13q22.3 microduplication syndrome
GPathogenic
KYNU
Copy number gain
not specified
GUncertain significance
ACVR2A, ARHGAP15
+17 more
Copy number loss
not specified
GPathogenic
ARHGAP15, GTDC1
+5 more
Copy number loss
not specified
GLikely pathogenic
ACVR2A, ARHGAP15
+17 more
Copy number gain
not provided
GPathogenic
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
ACMSD, AMER3
+64 more
Copy number loss
not provided
GPathogenic
RIF1, RND3
+28 more
Copy number gain
Strabismus
+2 more
GPathogenic
ZEB2, HNMT
+7 more
Deletion
Mowat-Wilson syndrome
GPathogenic
KYNU, LRP1B
Copy number gain
not provided
GUncertain significance
ARHGAP15, KYNU
Copy number gain
not provided
GUncertain significance
KYNU
Copy number gain
not provided
GUncertain significance
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
GTDC1, KYNU
+7 more
Duplication
MBD5 associated neurodevelopmental disorder
GPathogenic
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