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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZSWIM6
(E3Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
Microsatellite
(inframe_insertion)
not provided
GConflicting classifications of pathogenicity
ZSWIM6
(S28G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZSWIM6
(A48P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
Microsatellite
(inframe_insertion)
not provided
GConflicting classifications of pathogenicity
ZSWIM6
(A179S)
Indel
(missense variant)
not provided
GUncertain significance
ZSWIM6
(E202G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(R427Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(I451V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(M664T)
Single nucleotide variant
(missense variant)
Acromelic frontonasal dysostosis
+1 more
GUncertain significance
ZSWIM6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ZSWIM6
(R809H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(A984S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZSWIM6
(A1013V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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