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Items: 1 to 100 of 703

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
LOC129929733, LOC129929734
+1145 more
Copy number gain
See cases
GPathogenic
AUNIP, LDLRAP1
+44 more
Copy number gain
See cases
GUncertain significance
SELENON
Single nucleotide variant
not provided
GBenign
SELENON
Single nucleotide variant
not provided
GLikely benign
SELENON
Single nucleotide variant
not provided
GLikely benign
SELENON
Duplication
not provided
GLikely benign
SELENON
Deletion
not provided
GLikely benign
SELENON
Single nucleotide variant
not provided
GLikely benign
SELENON
Deletion
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
Duplication
not specified
GLikely benign
SELENON
Deletion
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
Single nucleotide variant
not specified
+2 more
GConflicting classifications of pathogenicity
SELENON
(M1fs)
Deletion
(frameshift variant +1 more)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
Single nucleotide variant
(5 prime UTR variant)
SEPN1-related disorder
+1 more
GConflicting classifications of pathogenicity
SELENON
(M1fs)
Deletion
(frameshift variant +1 more)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
Duplication
(5 prime UTR variant)
not specified
GLikely benign
SELENON
Deletion
(splice donor variant +1 more)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
Duplication
(5 prime UTR variant)
not provided
GLikely benign
SELENON
(M1fs)
Deletion
(frameshift variant +1 more)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(M1fs)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
SELENON
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
SELENON
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SELENON
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
SELENON
Single nucleotide variant
(5 prime UTR variant)
SEPN1-related disorder
GUncertain significance
SELENON
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SELENON
(M1V)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy with fiber type disproportion
+2 more
GPathogenic/Likely pathogenic
SELENON
(M1K)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
SELENON
(R5fs)
Insertion
(frameshift variant +1 more)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(R5fs)
Microsatellite
(frameshift variant +1 more)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(M1T)
Single nucleotide variant
(missense variant +1 more)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(M1R)
Single nucleotide variant
(missense variant +1 more)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(A4fs)
Deletion
(frameshift variant +1 more)
Eichsfeld type congenital muscular dystrophy
+1 more
GPathogenic
SELENON
(Q8fs)
Duplication
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
+1 more
GPathogenic
SELENON
(G2C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SELENON
(R3G)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
+1 more
GLikely benign
SELENON
(A4P)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(A4S)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(G7fs)
Deletion
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(R5Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SELENON
(P6S)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(A18fs)
Duplication
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(G7D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SELENON
(G10R)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(G10R)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(R25fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
SELENON
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(P20S)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(P20L)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
SELENON
(R26fs)
Duplication
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(A22V)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(R25S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
SELENON
(A28S)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(R29H)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(A32P)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(G35R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Duplication
(inframe_insertion)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Duplication
(inframe_insertion)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(V46I)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(V48fs)
Deletion
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(C49Y)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(R51H)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(E54*)
Single nucleotide variant
(nonsense)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(A55V)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
+1 more
GUncertain significance
SELENON
(Q56*)
Single nucleotide variant
(nonsense)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(Q56P)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SELENON
(A59E)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(Q61fs)
Deletion
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
+1 more
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
SELENON
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENON
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENON
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENON
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
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