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Items: 1 to 100 of 277

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001767, LOC130001768
+1006 more
Copy number gain
See cases
GPathogenic
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+1214 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001680, LOC130001681
+1062 more
Copy number gain
See cases
GPathogenic
LOC124210611, LOC124210612
+1120 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001484, LOC130001485
+883 more
Copy number gain
See cases
GPathogenic
LOC130001854, LOC130001855
+1367 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001585, LOC130001586
+984 more
Copy number gain
See cases
GPathogenic
LOC130001507, LOC130001508
+899 more
Copy number gain
See cases
GPathogenic
LOC130001746, LOC130001747
+980 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+899 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
SPATA31F3, SPATA31G1
+898 more
Copy number gain
See cases
GPathogenic
ANKRD18B, APTX
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+894 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+586 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+691 more
Copy number gain
See cases
GPathogenic
ACO1, ALDH1B1
+436 more
Copy number gain
See cases
GLikely pathogenic
ACO1, ALDH1B1
+504 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
ANKRD18B, ARID3C
+71 more
Copy number gain
not specified
GUncertain significance
PTENP1-AS, RECK
+211 more
Copy number loss
See cases
GPathogenic
DCAF12, DNAI1
+37 more
Copy number gain
See cases
GUncertain significance
MYORG
Deletion
(3 prime UTR variant)
not provided
GBenign
MYORG
(A713S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
(A708S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MYORG
(V695L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(K681E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(A679V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
(A679S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
(P678L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
(L677F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
(D674fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
MYORG
(D674N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
(P664L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYORG
(L660P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(L660Q)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
(D658N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(I656T)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
MYORG
(A647V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
(E625*)
Single nucleotide variant
(nonsense)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GLikely pathogenic
MYORG
(G624S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYORG
(L622P)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(L620F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
(L618M)
Indel
(missense variant)
not provided
GUncertain significance
MYORG
(L618M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYORG
(P617T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
(R611W)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(A609V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
(A608S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
(A602V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(V600G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(Y596*)
Single nucleotide variant
(nonsense)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GLikely pathogenic
MYORG
(I591V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
(R576H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(Y574F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(E572Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
(D567fs)
Deletion
(frameshift variant)
MYORG-related disorder
GLikely pathogenic
MYORG
(D567fs)
Indel
(frameshift variant)
MYORG-related disorder
GLikely pathogenic
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
(A558V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYORG
(V554M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(M553T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(P551S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(G545D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYORG
(A537fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
(P536L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYORG
(I535V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
(S533L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
(R521H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
(I512S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYORG
(S509L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
Single nucleotide variant
(synonymous variant)
MYORG-related disorder
GLikely benign
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYORG
(P496L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYORG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYORG
(T491P)
Single nucleotide variant
(missense variant)
MYORG-related disorder
GUncertain significance
MYORG
(Y490C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYORG
(R488P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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