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Items: 1 to 100 of 154

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
OR2M4, OR2M5
+1351 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1325 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
ACBD3, ACBD3-AS1
+287 more
Copy number loss
See cases
GPathogenic
LOC129932646, LOC129932647
+967 more
Copy number gain
See cases
GPathogenic
LOC129932948, LOC129932949
+954 more
Copy number gain
See cases
GPathogenic
LOC129932666, LOC129932667
+954 more
Copy number gain
See cases
GPathogenic
LOC128772241, LOC128772242
+952 more
Copy number gain
See cases
GPathogenic
SCCPDH, SDCCAG8
+951 more
Copy number gain
See cases
GPathogenic
LOC129932613, LOC129932614
+949 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+309 more
Copy number loss
See cases
GPathogenic
LOC129932859, LOC129932860
+869 more
Copy number gain
See cases
GPathogenic
PYCR2
(A240G +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
PYCR2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PYCR2
(L300V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PYCR2
(E293* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PYCR2
(R215K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PYCR2
(D199H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PYCR2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PYCR2
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 10
+1 more
GBenign
PYCR2
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 10
+1 more
GBenign
PYCR2
(R266* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PYCR2
(C188W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYCR2
(S261del +1 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PYCR2
(V184A +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PYCR2
(L180fs +1 more)
Microsatellite
(frameshift variant)
Hypomyelinating leukodystrophy 10
+1 more
GPathogenic/Likely pathogenic
PYCR2
(R177H +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
+1 more
GConflicting classifications of pathogenicity
PYCR2
(R251C +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GPathogenic
PYCR2
(F176V +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GUncertain significance
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PYCR2
(G249R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PYCR2
(C232G +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GPathogenic
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PYCR2
(Q152H +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GUncertain significance
PYCR2
(Q152* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(C151W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PYCR2
(M142R +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PYCR2
(K141E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYCR2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PYCR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PYCR2
(A207V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYCR2
(A133fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PYCR2
(I129V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PYCR2
(R126C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYCR2
(R125Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PYCR2
(R199W +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PYCR2
(V119M +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PYCR2
(A113T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PYCR2
(M183V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYCR2
(A181S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PYCR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR2
Single nucleotide variant
(intron variant)
not provided
GBenign
PYCR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR2
Single nucleotide variant
(splice donor variant +1 more)
not provided
GPathogenic
PYCR2
(G177R)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PYCR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PYCR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PYCR2
(V170I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PYCR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PYCR2
(V162L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR2
(V156L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR2
(G146E)
Single nucleotide variant
(missense variant +1 more)
Microcephaly
GUncertain significance
PYCR2
(V143M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PYCR2
(T139S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PYCR2
(T137M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR2
(Y135fs)
Microsatellite
(frameshift variant +1 more)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(V134M)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
PYCR2
(T133P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR2
(R119H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
PYCR2
(R119fs)
Duplication
(frameshift variant +1 more)
Hypomyelinating leukodystrophy 10
GPathogenic
PYCR2
(R119C)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 10
GPathogenic/Likely pathogenic
PYCR2
(K116E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR2
(Q112*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
MIR6741, PYCR2
Single nucleotide variant
(intron variant +2 more)
not provided
GPathogenic/Likely pathogenic
MIR6741, PYCR2
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
PYCR2
Single nucleotide variant
(intron variant)
PYCR2-related disorder
GLikely benign
PYCR2
Single nucleotide variant
(splice donor variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(V104fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PYCR2
(V92M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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