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Items: 1 to 100 of 1106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
SETD2
Deletion
(nonsense +2 more)
not provided
GUncertain significance
SETD2
(E2518G +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
(T2517I +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
(V2510I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
SETD2
(K2506T +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
(M2504V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(E2498A +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
SETD2
(R2446W +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
(V2439F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(V2483I +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
+1 more
GConflicting classifications of pathogenicity
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
(I2482V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(Q2436fs +1 more)
Insertion
(frameshift variant +1 more)
not provided
GPathogenic
SETD2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SETD2
Single nucleotide variant
(intron variant)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SETD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SETD2
Deletion
(splice donor variant)
Luscan-Lumish syndrome
GBenign
SETD2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
(S2408L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SETD2
(A2451V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
SETD2
Single nucleotide variant
(intron variant)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SETD2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SETD2
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SETD2
(K2406R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(M2405T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETD2
(P2404L +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GBenign
SETD2
(S2380G +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
(T2377A +1 more)
Single nucleotide variant
(missense variant +1 more)
SETD2-related disorder
+1 more
GLikely benign
SETD2
(W2373R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(Q2370H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
Single nucleotide variant
(intron variant)
Luscan-Lumish syndrome
+1 more
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
Luscan-Lumish syndrome
GLikely benign
SETD2
(K2360E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(K2352R +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
(V2346I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
(P2337H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SETD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SETD2
Single nucleotide variant
(intron variant)
Luscan-Lumish syndrome
GLikely benign
SETD2
(P2322S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(Q2365E +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
(P2314Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GBenign
SETD2
(I2311V +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GBenign
SETD2
(T2354A +1 more)
Single nucleotide variant
(missense variant +1 more)
SETD2-related disorder
+2 more
GBenign/Likely benign
SETD2
(A2306E +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GBenign
SETD2
(A2306S +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
(A2306T +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GBenign
SETD2
(Q2303E +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
(V2300L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(G2299E +1 more)
Single nucleotide variant
(missense variant +1 more)
SETD2-related disorder
GUncertain significance
SETD2
(P2297S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SETD2
Deletion
(inframe_deletion +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
(Q2291R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autism spectrum disorder
GLikely benign
SETD2
(Q2290R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
(L2328V +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
(S2327R +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
(S2283G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
(A2280S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SETD2
Deletion
(intron variant)
Luscan-Lumish syndrome
GLikely benign
SETD2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
SETD2
(P2274R +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
(T2272A +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
SETD2
Single nucleotide variant
(synonymous variant +1 more)
Luscan-Lumish syndrome
GLikely benign
SETD2
(P2267S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(Y2262C +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
GUncertain significance
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