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Items: 80

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
LOC130056152, LOC130056153
+503 more
Copy number loss
See cases
GPathogenic
ABCD4, ACOT1
+299 more
Copy number loss
See cases
GLikely pathogenic
ABCD4, ACYP1
+1421 more
Copy number gain
See cases
GPathogenic
ABCD4, ACYP1
+227 more
Copy number loss
See cases
GPathogenic
DLST
Single nucleotide variant
(5 prime UTR variant +1 more)
DLST-related disorder
GLikely benign
DLST
Single nucleotide variant
(5 prime UTR variant +1 more)
DLST-related disorder
GLikely benign
DLST
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
DLST
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
DLST
(S3P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(R4Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DLST
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DLST
(R6S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DLST
(C24Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(P25L)
Single nucleotide variant
(missense variant +1 more)
DLST-related disorder
GUncertain significance
DLST
(C37W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(V49I)
Single nucleotide variant
(missense variant +1 more)
DLST-related disorder
+1 more
GLikely benign
DLST
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DLST
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
DLST
(A77V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
Duplication
(intron variant)
not provided
GLikely benign
DLST
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DLST
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DLST
(I106V)
Single nucleotide variant
(missense variant +1 more)
DLST-related disorder
GUncertain significance
DLST
Single nucleotide variant
(intron variant)
not provided
GBenign
DLST
(V113L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DLST
(A119E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(P129L)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
DLST
(T142I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(G147D)
Single nucleotide variant
(missense variant +1 more)
DLST-related disorder
GLikely benign
DLST
(P161A)
Single nucleotide variant
(missense variant +1 more)
DLST-related disorder
GLikely benign
DLST
Single nucleotide variant
(synonymous variant +1 more)
DLST-related disorder
GLikely benign
DLST
(P159L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(P164S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(A171V)
Single nucleotide variant
(missense variant +1 more)
DLST-related disorder
GUncertain significance
DLST
(A177G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(P186A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
DLST
(S195P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST, LOC130056099
Single nucleotide variant
(intron variant)
not provided
GBenign
DLST
(P204L)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DLST
(G216V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(R233C)
Single nucleotide variant
(missense variant +1 more)
DLST-related disorder
GUncertain significance
DLST
(F251Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
DLST
(M256V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
Single nucleotide variant
(intron variant)
not provided
GBenign
DLST
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DLST
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
DLST
(A264V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(S288L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(Q295E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
DLST
Single nucleotide variant
(intron variant)
not provided
GBenign
DLST
(D304G)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 7
GUncertain significance
DLST
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DLST
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DLST
(R345W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(T348A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(E352D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DLST
(I361V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
DLST
(G374E)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 7
GPathogenic
DLST
(R413Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(L436H)
Single nucleotide variant
(missense variant +1 more)
Oxoglutaricaciduria
GUncertain significance
DLST
(R437C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(V448A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLST
(L449V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPC2, PGF
+25 more
Copy number loss
not provided
GUncertain significance
ACOT4, ACOT6
+353 more
Copy number gain
not provided
GPathogenic
DLST, PGF
+1 more
Copy number loss
not provided
GUncertain significance
ABCD4, ABHD12B
+447 more
Copy number gain
See cases
GPathogenic
AP5M1, EXOC5
+158 more
Copy number gain
14q22.2q24.3 duplication
GLikely pathogenic
MLH3, YLPM1
+5 more
Copy number gain
not provided
GUncertain significance
ABCD4, ACOT2
+38 more
Copy number loss
not provided
GLikely pathogenic
ABCD4, ABHD12B
+624 more
Copy number gain
See cases
GPathogenic
NUMB, OTUB2
+261 more
Copy number gain
See cases
GPathogenic
ERG28, OR11G2
+635 more
Copy number gain
See cases
GPathogenic
RBM25, LIN52
+59 more
Deletion
Intellectual disability, mild
+3 more
GLikely pathogenic
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