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Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ABCD4, ACYP1
+1421 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1202 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+1071 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+880 more
Copy number gain
See cases
GPathogenic
ADSS1, AK7
+662 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+754 more
Copy number loss
See cases
GPathogenic
IGHD3-22, IGHD3-3
+670 more
Copy number gain
See cases
GPathogenic
LINC00677, LINC01550
+666 more
Copy number loss
See cases
GPathogenic
LOC130056627, LOC130056628
+653 more
Copy number gain
See cases
GPathogenic
BEGAIN, DEGS2
+96 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+631 more
Copy number loss
See cases
GPathogenic
BEGAIN, DEGS2
+130 more
Copy number loss
See cases
GPathogenic
BEGAIN, LOC130056452
+36 more
Copy number gain
See cases
GUncertain significance
BEGAIN, CINP
+215 more
Copy number loss
See cases
GPathogenic
MIR494, MIR495
+530 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+582 more
Copy number loss
See cases
GPathogenic
WARS1
Single nucleotide variant
(synonymous variant)
WARS1-related disorder
GLikely benign
WARS1
(E410D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(K409Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WARS1
(R408H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(R407W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
GUncertain significance
WARS1
(E395K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WARS1
(A392T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WARS1
(D419N +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
GPathogenic
WARS1
Single nucleotide variant
(intron variant)
not provided
GBenign
WARS1
Single nucleotide variant
(intron variant)
not provided
GBenign
WARS1
Single nucleotide variant
(intron variant)
not provided
GBenign
WARS1
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, type 9
+1 more
GBenign
WARS1
(I375M +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 9
GUncertain significance
WARS1
(K371R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WARS1
(D411N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
Single nucleotide variant
(synonymous variant)
WARS1-related disorder
+1 more
GBenign/Likely benign
WARS1
(E344D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
Single nucleotide variant
(intron variant)
not provided
GBenign
WARS1
Single nucleotide variant
(intron variant)
not provided
GBenign
WARS1
Single nucleotide variant
(intron variant)
not provided
GBenign
WARS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WARS1
(P314S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(D313E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(S312T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
WARS1
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, type 9
+2 more
GBenign
WARS1
(A292T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
GUncertain significance
WARS1
(V282I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(D281N +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 9
GUncertain significance
WARS1
(D314G +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 9
GPathogenic
WARS1
Duplication
(intron variant)
not provided
GBenign
WARS1
Single nucleotide variant
(intron variant)
not provided
GBenign
WARS1
(R298Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WARS1
(S251L +1 more)
Single nucleotide variant
(missense variant)
WARS1-related disorder
GUncertain significance
WARS1
(P240S +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 9
GUncertain significance
WARS1
(G235E +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
GLikely pathogenic
WARS1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
WARS1
Single nucleotide variant
(intron variant)
WARS1-related disorder
+2 more
GBenign
WARS1
(D232N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WARS1
(V217I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(H257R +1 more)
Single nucleotide variant
(missense variant)
See cases
+1 more
GConflicting classifications of pathogenicity
WARS1
(L197Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WARS1
(I234V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(F192L +1 more)
Single nucleotide variant
(missense variant)
WARS1-related disorder
GUncertain significance
WARS1
(G185A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
Single nucleotide variant
(synonymous variant)
WARS1-related disorder
+1 more
GLikely benign
WARS1
(A170S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WARS1
(Y160C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WARS1
(F146fs +1 more)
Indel
(frameshift variant)
not provided
GUncertain significance
WARS1
(I134V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(R162Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(A108D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(L106R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(L106V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(Q104H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WARS1
Single nucleotide variant
(intron variant)
not provided
GBenign
WARS1
Single nucleotide variant
(intron variant)
not provided
GBenign
WARS1
(F138Y +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 9
GPathogenic
WARS1
(I136T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(R133H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WARS1
(R133C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
WARS1
(I79T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(R119* +1 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
WARS1
(D72E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(R106L +1 more)
Single nucleotide variant
(missense variant)
Developmental delay
GUncertain significance
WARS1
(R106W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
Single nucleotide variant
(intron variant)
See cases
GLikely benign
WARS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WARS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WARS1
(D60N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(S53N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
(E38V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WARS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WARS1
(A13T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WARS1
(V3L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WARS1
Single nucleotide variant
(intron variant)
not provided
GBenign
WARS1
(V23I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WARS1
(L9V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
WARS1
(M1V)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
GPathogenic
BEGAIN, DLK1
+5 more
Copy number loss
not specified
GPathogenic
AMN, ANKRD9
+54 more
Copy number gain
not specified
GUncertain significance
SLC25A29, SLC25A47
+3 more
Copy number gain
not provided
GUncertain significance
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