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Items: 1 to 100 of 111

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ASDURF
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
ANKAR, ASDURF
+191 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+329 more
Copy number loss
See cases
GPathogenic
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
GLS, LOC129935268
Microsatellite
(5 prime UTR variant)
GLS-related disorder
GLikely benign
GLS, LOC129935268
Microsatellite
(5 prime UTR variant)
GLS-related disorder
GLikely benign
GLS, LOC129935268
Microsatellite
(5 prime UTR variant)
GLS-related disorder
GLikely benign
GLS, LOC129935268
Microsatellite
(5 prime UTR variant)
GLS-related disorder
GLikely benign
LOC129935268, GLS
Microsatellite
(5 prime UTR variant)
not provided
GBenign
GLS, LOC129935268
Microsatellite
(5 prime UTR variant)
Global developmental delay, progressive ataxia, and elevated glutamine
GPathogenic
GLS, LOC129935268
Microsatellite
(5 prime UTR variant)
GLS-related disorder
GLikely benign
GLS, LOC129935268
Microsatellite
(5 prime UTR variant)
GLS-related disorder
GLikely benign
GLS, LOC129935268
Microsatellite
(5 prime UTR variant)
GLS-related disorder
GLikely benign
GLS, LOC129935268
Microsatellite
(5 prime UTR variant)
GLS-related disorder
GLikely benign
GLS, LOC129935268
Microsatellite
(5 prime UTR variant)
GLS-related disorder
GLikely benign
GLS
(R3W)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 71
GUncertain significance
GLS
(D12E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(S22R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(L25R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(R27G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(G42R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(G42E)
Single nucleotide variant
(missense variant)
GLS-related disorder
GLikely benign
GLS
(G42V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLS, LOC129935269
(A50T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS, LOC129935269
(A50D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS, LOC129935269
(W63C)
Single nucleotide variant
(missense variant)
Global developmental delay, progressive ataxia, and elevated glutamine
GUncertain significance
GLS, LOC129935269
(A65V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(E66G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GLS
(S73P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLS
(S73F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
Single nucleotide variant
(synonymous variant)
GLS-related disorder
GLikely benign
GLS
(S77A)
Single nucleotide variant
(missense variant)
GLS-related disorder
GUncertain significance
GLS
(S77P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(Q81*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 71
GPathogenic
GLS, LOC129935270
(T88R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS, LOC129935270
(H89P)
Single nucleotide variant
(missense variant)
GLS-related disorder
GBenign
GLS, LOC129935270
(V94G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLS, LOC129935270
(P96S)
Single nucleotide variant
(missense variant)
GLS-related disorder
GUncertain significance
GLS, LOC129935270
(P97L)
Single nucleotide variant
(missense variant)
GLS-related disorder
GLikely benign
GLS, LOC129935270
(A99T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GLS, LOC129935270
(P100L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLS
(A114fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
GLS
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
GLS
(K130E)
Single nucleotide variant
(missense variant)
GLS-related disorder
GUncertain significance
GLS
(D141G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(S165C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(R169Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLS
(D232fs)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 71
GPathogenic
GLS
(Y235C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 71
GUncertain significance
GLS
(K239E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(K245R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(V268I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(R272K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 71
GPathogenic
GLS
(K289I)
Single nucleotide variant
(missense variant)
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
GLikely pathogenic
GLS
(K289N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLS
(Y308*)
Duplication
(nonsense)
Global developmental delay, progressive ataxia, and elevated glutamine
GPathogenic
GLS
(P313L)
Single nucleotide variant
(missense variant)
Global developmental delay, progressive ataxia, and elevated glutamine
GPathogenic
GLS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLS
(K346Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(K346R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLS
Duplication
(intron variant)
GLS-related disorder
GLikely benign
GLS
(N351del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
GLS
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
GLS
(R387Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLS
(G392R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLS
(C424R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 71
GLikely pathogenic
GLS
(A432S)
Single nucleotide variant
(missense variant)
GLS-related disorder
+1 more
GBenign
GLS
(G438D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLS
(T443A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLS
(Q471R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GLS
(A473V)
Single nucleotide variant
(missense variant)
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
GUncertain significance
GLS
(S482C)
Single nucleotide variant
(missense variant)
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
GPathogenic
GLS
(I488fs)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 71
GPathogenic
GLS
(M508K)
Single nucleotide variant
(missense variant)
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
GUncertain significance
GLS
Single nucleotide variant
(intron variant)
GLS-related disorder
GBenign
GLS
Single nucleotide variant
(synonymous variant +1 more)
GLS-related disorder
GLikely benign
GLS
(Q563P)
Single nucleotide variant
(missense variant +1 more)
GLS-related disorder
GUncertain significance
GLS
Microsatellite
(intron variant)
GLS-related disorder
GLikely benign
GLS
Single nucleotide variant
(synonymous variant)
GLS-related disorder
+1 more
GLikely benign
GLS
Single nucleotide variant
(synonymous variant)
GLS-related disorder
+1 more
GBenign
GLS
(T647I)
Single nucleotide variant
(missense variant)
Tracheoesophageal fistula
GLikely pathogenic
GLS
(N654S)
Single nucleotide variant
(missense variant)
GLS-related disorder
GBenign
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
ANKAR, ASNSD1
+17 more
Duplication
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
+2 more
GUncertain significance
ABI2, ADAM23
+107 more
Copy number loss
not provided
GPathogenic
GLS, STAT1
+1 more
Copy number gain
not provided
GUncertain significance
GLS, STAT1
+1 more
Copy number gain
not provided
GUncertain significance
GLS, STAT1
Copy number loss
not provided
GUncertain significance
ANKAR, ANKRD44
+48 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ABI2, ACADL
+127 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
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