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Links from Gene

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VDR
Deletion
not provided
GPathogenic
VDR
(L224F +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(synonymous variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(L323V +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(D149G +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(splice donor variant)
Vitamin D-dependent rickets type II with alopecia
GLikely pathogenic
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