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Items: 1 to 100 of 2743

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
ABCG4, ACRV1
+774 more
Copy number gain
See cases
GPathogenic
ABCG4, APOA1
+355 more
Copy number gain
See cases
GPathogenic
LOC130007012, LOC130007013
+769 more
Copy number gain
See cases
GPathogenic
LOC126861364, LOC126861365
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
FRA11B, FXYD2
+763 more
Copy number gain
See cases
GPathogenic
ABCG4, ACRV1
+499 more
Copy number gain
See cases
GPathogenic
KMT2A
Single nucleotide variant
not provided
GLikely benign
KMT2A
(M1L)
Single nucleotide variant
(missense variant +1 more)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(C5S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(F9C)
Single nucleotide variant
(missense variant)
KMT2A-related disorder
GLikely pathogenic
KMT2A
(F9L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KMT2A
(A11T)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(G20S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(R24fs)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(G22A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(G28R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(G28W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KMT2A
(R32fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
KMT2A
(G29C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(A30V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(A30G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(V35I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(P36Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P36L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P41A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P45fs)
Deletion
(frameshift variant)
not provided
GPathogenic
KMT2A
(P41S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P41R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P42L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KMT2A
(G43R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P45fs)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(G43E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(P44S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P44T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
KMT2A
(P45fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
KMT2A
(P44H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(P45T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P45S)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(P45R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
KMT2A
(V46A)
Single nucleotide variant
(missense variant)
not provided
GBenign
KMT2A
(G47R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KMT2A
(G47D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KMT2A
(P51fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
KMT2A
(G49D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KMT2A
(G50S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(G50D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P51R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(G52R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(G52R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KMT2A
(A53V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(P54A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(S56fs)
Insertion
(frameshift variant)
Inborn genetic diseases
GPathogenic
KMT2A
(A59fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
KMT2A
(S56Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KMT2A
(P58fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(P58T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KMT2A
(P58A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P58S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P58R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(P58L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
(A59G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
KMT2A
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
KMT2A
Duplication
(inframe_insertion)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(A62T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
Insertion
(inframe_insertion)
not provided
GUncertain significance
KMT2A
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
KMT2A
Microsatellite
(inframe_insertion)
not provided
+1 more
GUncertain significance
KMT2A
Microsatellite
(inframe_insertion)
not provided
GConflicting classifications of pathogenicity
KMT2A
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
KMT2A
(A67del)
Microsatellite
(inframe_deletion)
Wiedemann-Steiner syndrome
+1 more
GLikely benign
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KMT2A
(G68E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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