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Links from Gene

Items: 1 to 100 of 287

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REEP6
Single nucleotide variant
(synonymous variant +1 more)
REEP6-related disorder
GLikely benign
REEP6
(Y92*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 77
GLikely pathogenic
REEP6
(Q177E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
REEP6
(G168R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
REEP6
Single nucleotide variant
(synonymous variant)
REEP6-related disorder
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130062963, REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
(A118T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
(R141G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
(Y136*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MBD3L3, MBD3L4
+202 more
Copy number gain
not provided
GPathogenic
ABHD17A, ADAMTSL5
+80 more
Duplication
not provided
GUncertain significance
C19orf25, CSNK1G2
+35 more
Duplication
Progressive myoclonic epilepsy type 9
+1 more
GUncertain significance
TLE5, TLE6
+151 more
Duplication
not provided
GUncertain significance
ABCA7, ABHD17A
+61 more
Duplication
Neutropenia, severe congenital, 1, autosomal dominant
+1 more
GUncertain significance
APC2, C19orf25
+2 more
Duplication
not provided
GUncertain significance
ABCA7, ABHD17A
+138 more
Duplication
not provided
GUncertain significance
ADAMTSL5, APC2
+20 more
Deletion
Cerebral creatine deficiency syndrome
GPathogenic
LOC130062963, REEP6
(E32G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
REEP6
(E9K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
REEP6
(P181L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
(A69T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130062962, REEP6
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130062963, REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
(A190V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
(A162V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
(A132V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
(V187fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
(D152E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
REEP6
(P110S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
(Y65*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC130062963, REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
(L120M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130062963, REEP6
(Y35H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
(H147R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
(Y68C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130062963, REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
(A54V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
(P181R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
REEP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
REEP6
(K72R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
(P206L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
REEP6
(K211N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
(A93T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
(A165T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
REEP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
REEP6
(V151I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ADAMTSL5, APC2
+13 more
Copy number loss
not provided
GUncertain significance
LOC130062963, REEP6
(R34P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP6
(N59I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA7, ABHD17A
+77 more
Copy number gain
See cases
GPathogenic
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130062963, REEP6
Indel
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130062963, REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REEP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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