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Links from Gene

Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NT5C1B, NT5C1B-RDH14
(Q213R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(S145N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R578W +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(S314F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(E213Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R155W +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(S123N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(E12D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(F610S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(F587S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(L552F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(Q57E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(S50L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(L366F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R307C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R337P +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(E285K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(V263G +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R145C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(S237G +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(M86I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R109W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(S144R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(I63T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R36H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(D183N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(L272M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(I548V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(A181G +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R509W +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(H501R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(E20D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NT5C1B, NT5C1B-RDH14
(G543V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(P116S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R81C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(A121P +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R47C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R109Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(F509L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(M322I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(I573T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(G71A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R118L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(E268Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(T178M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(L404F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R211W +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(L264V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(S256T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(H486Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(R36C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NT5C1B, NT5C1B-RDH14
(A602T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NT5C1B, NT5C1B-RDH14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NT5C1B, NT5C1B-RDH14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NT5C1B, NT5C1B-RDH14
(R130* +3 more)
Single nucleotide variant
(nonsense)
not provided
GBenign
NT5C1B, NT5C1B-RDH14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NT5C1B, NT5C1B-RDH14
(L90P +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NT5C1B, NT5C1B-RDH14
(P47A)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
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