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Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
ALS2CL
(E951V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(H941R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(M909I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R893C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(G862R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
Deletion
(nonsense +1 more)
not specified
GUncertain significance
ALS2CL
(T847M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(T846I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(I844N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(K832E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(M764K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(T749R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R738H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R738C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R733Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ALS2CL
(A713T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(E711K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(G704R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R690Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(K668R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(P667S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(E655K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(D649N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(S636F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(E632K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(V627L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R598C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(G564R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(D536E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(T515M)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ALS2CL
(T500N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(G494C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(G494S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(Q491R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(Q452P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R441W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(G394S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(V382M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R379W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(P376L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R364K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(E361K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R352Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R341C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(V327M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(V327L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(A318V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ALS2CL
(C297S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(T289M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(L288F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R250H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(D205H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(E203K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(E184Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R183Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ALS2CL
(T175S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(V166M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(Q156H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(G151S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(S145L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R134W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R127W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(C109Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R94H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R94C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R90Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(T81A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(Q52R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(E45A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(S39L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(R11W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL
(C2G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALS2CL, ARIH2
+66 more
Duplication
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
GUncertain significance
NCKIPSD, NDUFAF3
+71 more
Copy number loss
not provided
GPathogenic
ALS2CL, CCDC12
+4 more
Copy number gain
not provided
GUncertain significance
APEH, HEMK1
+177 more
Copy number gain
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABHD5, ACAA1
+177 more
Copy number gain
See cases
GLikely pathogenic
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