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Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
EPHA10
(S989G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(G960E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(A955V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(Y950C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(C948S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EPHA10
(R927C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(L914P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
EPHA10
(P910L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(Q895E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R869G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(P868L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R864Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(V829M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(P815S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(A814T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R807W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(E798K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R796P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R791W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(D781N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R774L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R769Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(M726V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(E724K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R715Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R708W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(V707L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(E694K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(G690R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(H677Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(V676M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(G668R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(S644N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(A637T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(A632P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(S625I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(Q624*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
EPHA10
(R618H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
EPHA10
(E606K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(P592S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(V582M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(S574L)
Single nucleotide variant
(missense variant)
not provided
GBenign
EPHA10
(R560G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(G553E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(F543L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EPHA10
(A532T)
Single nucleotide variant
(missense variant)
not provided
GBenign
EPHA10
(V516I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(E491Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(D458Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(G450V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(Q444R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(A443V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(V431A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EPHA10
(A403E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(A388T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(S369L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(P361L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(C334G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(A323E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(V317M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(S313F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(S270N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(P252Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(S250N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(P248T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(V241G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(T224N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(A213T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(S203L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(P182R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(G181*)
Single nucleotide variant
(nonsense)
Hearing loss, autosomal dominant 88
GUncertain significance
EPHA10
(E179D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(V177A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(T175I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R150S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R148Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R148G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R143C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(V128I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(G91S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(I37F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(R29L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(P27R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
(H8Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHA10
Indel
Hearing loss, autosomal dominant 88
+1 more
GPathogenic
AIRIM, C1orf122
+8 more
Duplication
not provided
GUncertain significance
ADPRS, AGO1
+37 more
Copy number loss
not specified
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
AIRIM, C1orf122
+16 more
Copy number gain
See cases
GLikely benign
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
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