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Links from Gene

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XCR1
(R295H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(R220C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(A268T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(G291E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(Q263E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(F167L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(Y15C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(R144C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(I117F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(M107I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(A81T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(C74Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(V36L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(P21L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
XCR1
(E23V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(A81P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(F12V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(K169T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(R219Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(S317L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(R309W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(A152T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(I271F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(E8G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(V206L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALS2CL, ARIH2
+66 more
Duplication
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
GUncertain significance
XCR1
(L270F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(A156T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(T10N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XCR1
(R303Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
XCR1
(H92R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCKIPSD, NDUFAF3
+71 more
Copy number loss
not provided
GPathogenic
CCR9, CXCR6
+3 more
Duplication
not provided
GUncertain significance
CCR9, CXCR6
+3 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
CCR1, CCR3
+23 more
Copy number gain
See cases
GLikely benign
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
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