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Links from Gene

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARCN1
(Q321P +7 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARCN1, IFT46
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ARCN1
(A110D +5 more)
Single nucleotide variant
(missense variant)
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
GUncertain significance
ARCN1
(E184* +1 more)
Single nucleotide variant
(nonsense)
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
GLikely pathogenic
ARCN1, IFT46
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARCN1, IFT46
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARCN1
(N375D +1 more)
Single nucleotide variant
(missense variant)
Microcephaly
GUncertain significance
ARCN1, IFT46
Single nucleotide variant
(intron variant)
not provided
GBenign
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