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Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BPESC1, BTLA
+2645 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
LINC00578, LINC00880
+1317 more
Copy number gain
See cases
GPathogenic
PAK2, PARL
+1246 more
Copy number gain
See cases
GPathogenic
LOC129937828, LOC129937829
+1244 more
Copy number gain
See cases
GPathogenic
LOC129938023, LOC129938024
+1200 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+1041 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+867 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+866 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+280 more
Duplication
Currarino triad
GLikely pathogenic
LINC01206, ACTL6A
+44 more
Deletion
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
FXR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
FXR1
(G10C)
Single nucleotide variant
(missense variant +1 more)
Myopathy, congenital, with respiratory insufficiency and bone fractures
GUncertain significance
FXR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FXR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FXR1
Single nucleotide variant
(intron variant)
Myopathy, congenital proximal, with minicore lesions
+2 more
GBenign/Likely benign
FXR1
(S27C)
Single nucleotide variant
(missense variant +1 more)
Delayed gross motor development
+2 more
GUncertain significance
FXR1
(F32S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FXR1
(K83E)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy
GUncertain significance
FXR1
(N116D +1 more)
Single nucleotide variant
(missense variant)
Congenital myopathy
GUncertain significance
FXR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FXR1
(I192T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXR1
(K128I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
FXR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FXR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FXR1
(T396I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXR1
(R436H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXR1
Duplication
(intron variant)
Myopathy, congenital proximal, with minicore lesions
GPathogenic
FXR1
Duplication
(intron variant)
Myopathy, congenital proximal, with minicore lesions
GPathogenic
FXR1
Deletion
(intron variant)
Multiminicore myopathy
GUncertain significance
FXR1
Deletion
(intron variant)
Myopathy, congenital, with respiratory insufficiency and bone fractures
GPathogenic
FXR1
(K477R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
FXR1
(G489V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
FXR1
(S491T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
FXR1
(N496S +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
FXR1
(S587P +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
FXR1
(I506N +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability
GLikely pathogenic
ABCC5, ABCF3
+145 more
Duplication
not provided
GPathogenic
AADAC, AADACL2
+286 more
Duplication
not provided
GPathogenic
CCDC39, DNAJC19
+1 more
Deletion
3-methylglutaconic aciduria type 5
GPathogenic
CCDC50, MELTF
+155 more
Copy number gain
Isolated anorectal malformation
GLikely pathogenic
ACTL6A, ACTRT3
+79 more
Copy number gain
not specified
GPathogenic
ABCC5, ABCF3
+82 more
Copy number gain
not provided
GPathogenic
SOX2-OT, TTC14
+4 more
Copy number loss
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
MRPL47, DNAJC19
+12 more
Copy number loss
not provided
GPathogenic
SOX2-OT, DNAJC19
+2 more
Copy number loss
not provided
GPathogenic
FXR1, HTR3D
+113 more
Copy number gain
not provided
GPathogenic
DCUN1D1, MAP3K13
+147 more
Copy number gain
not provided
GPathogenic
LRRC2, LRRC31
+1054 more
Copy number gain
not provided
GPathogenic
A4GNT, AADAC
+1055 more
Copy number gain
not provided
GPathogenic
FBXL2, FBXO40
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCF3
+198 more
Copy number gain
See cases
GPathogenic
PTX3, MIR1224
+220 more
Copy number gain
See cases
GPathogenic
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