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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC127407129, RFX6
Single nucleotide variant
(synonymous variant)
RFX6-related disorder
GLikely benign
LOC127407129, RFX6
(Q25E)
Single nucleotide variant
(missense variant)
RFX6-related disorder
GUncertain significance
LOC127407129, RFX6
Single nucleotide variant
(synonymous variant)
RFX6-related disorder
+2 more
GBenign
RFX6, LOC127407129
(E75Q)
Single nucleotide variant
(missense variant)
RFX6-related disorder
+1 more
GLikely benign
LOC127407129, RFX6
Single nucleotide variant
(intron variant)
RFX6-related disorder
+1 more
GBenign
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