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Items: 1 to 100 of 264

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANTKMT, ARHGDIG
+194 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+210 more
Copy number loss
See cases
GPathogenic
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+224 more
Copy number loss
See cases
GPathogenic
NHLRC4, NME4
+119 more
Copy number loss
See cases
GPathogenic
LOC125146383, LOC125146384
+556 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+179 more
Copy number loss
See cases
GPathogenic
ABAT, ABCA3
+843 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+253 more
Copy number loss
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+130 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+164 more
Copy number loss
See cases
GPathogenic
ANTKMT, CAPN15
+76 more
Copy number gain
See cases
GUncertain significance
ANTKMT, CAPN15
+47 more
Copy number gain
See cases
GBenign
ANTKMT, CAPN15
+45 more
Copy number gain
See cases
GLikely benign
ANTKMT, CCDC78
+40 more
Copy number gain
See cases
GBenign
ANTKMT, FBXL16
+26 more
Copy number loss
See cases
GBenign
LOC130058119, LOC130058120
+26 more
Copy number gain
See cases
GBenign
ANTKMT, FBXL16
+18 more
Copy number loss
See cases
GBenign
ABAT, ABCA3
+926 more
Copy number gain
See cases
GPathogenic
STUB1
Single nucleotide variant
not provided
GBenign
STUB1
Single nucleotide variant
not provided
GBenign
LOC130058120, STUB1
Deletion
not provided
GBenign
LOC130058120, STUB1
Deletion
not provided
GBenign
STUB1
Single nucleotide variant
not provided
GBenign
STUB1
Single nucleotide variant
not provided
GBenign
LOC130058121, STUB1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
STUB1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
STUB1
(G9S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
STUB1
(A11T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
STUB1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
STUB1
(A15S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
(A15V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
(G18R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
STUB1
Single nucleotide variant
(5 prime UTR variant +1 more)
STUB1-related disorder
GLikely benign
STUB1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
STUB1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
STUB1
(K22fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GPathogenic
STUB1
(A26T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
(G33S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Spinocerebellar ataxia 48
GPathogenic
STUB1
(N34S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
(R35P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
(L36P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
(F37L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
(G39D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
(A45E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Spinocerebellar ataxia 48
GUncertain significance
STUB1
(C48Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
STUB1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
STUB1
(Y49D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
(Y49C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
STUB1
(A52T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Spinocerebellar ataxia 48
GUncertain significance
STUB1
Single nucleotide variant
(intron variant)
not provided
GBenign
STUB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STUB1
Single nucleotide variant
(intron variant)
not provided
GBenign
STUB1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
STUB1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
STUB1
(N56K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 16
GPathogenic
STUB1
(P57L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Spinocerebellar ataxia 48
GLikely pathogenic
STUB1
(V61A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
STUB1
(N65D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
STUB1
(N65S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely pathogenic
STUB1
(N65K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
STUB1
(A67T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Spinocerebellar ataxia 48
GPathogenic
STUB1
(C69W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 16
GLikely pathogenic
STUB1
(A79T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 16
GPathogenic
STUB1
(A79D +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 16
GPathogenic
STUB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STUB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STUB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STUB1
(S37N +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
STUB1
(N44H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR24, STUB1
+2 more
(N116D +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 16
+1 more
GUncertain significance
STUB1
(N116S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STUB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STUB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STUB1
(L123V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 16
GPathogenic/Likely pathogenic
STUB1
(N130fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
STUB1
(R128W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STUB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STUB1
(N130I +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 16
GPathogenic
STUB1
(F131L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 16
GUncertain significance
STUB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STUB1
(G132E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STUB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STUB1
(A70V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STUB1
(K145del +1 more)
Microsatellite
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
STUB1
(K145Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
STUB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STUB1
(W147* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
STUB1
(W147C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 16
GPathogenic
STUB1
(R82C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 16
GUncertain significance
STUB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STUB1
(Q157* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive spinocerebellar ataxia 16
GLikely pathogenic
STUB1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
STUB1
(L165F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 16
GPathogenic
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