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Links from Gene

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RECQL5, SMIM6
(D13A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862642, RECQL5
(V42I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862642, RECQL5
(P9S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862642, RECQL5
Single nucleotide variant
(intron variant)
RECQL5-related disorder
GLikely benign
LOC126862642, RECQL5
(T38A)
Single nucleotide variant
(missense variant)
RECQL5-related disorder
GUncertain significance
RECQL5, SMIM5
(R65W)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ERLN, RECQL5
(A58T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RECQL5, SMIM5
(R11H)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
LOC126862642, RECQL5
(T19M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERLN, RECQL5
(T9I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERLN, RECQL5
(A34V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RECQL5, SMIM5
(R68G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RECQL5, SMIM5
(S36P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RECQL5, SMIM5
(I32M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RECQL5, SMIM5
(P74L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC126862642, RECQL5
(V23G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERLN, RECQL5
(I10T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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