Related gene-specific medical variations for Gene (Select 372) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359623	NM_001655.5(ARCN1):c.1406A>C (p.Gln469Pro)	ARCN1 (Q321P +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3339875	NM_001655.5(ARCN1):c.-3A>G	ARCN1, IFT46	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3237533	NM_001655.5(ARCN1):c.593C>A (p.Ala198Asp)	ARCN1 (A110D +5 more)	Single nucleotide variant (missense variant)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GUncertain significance
Select item 2434798	NM_001655.5(ARCN1):c.814G>T (p.Glu272Ter)	ARCN1 (E184* +1 more)	Single nucleotide variant (nonsense)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GLikely pathogenic
Select item 2110616	NM_001655.5(ARCN1):c.3+16G>A	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965357	NM_001655.5(ARCN1):c.3+9C>A	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 813681	NM_001655.5(ARCN1):c.1387A>G (p.Asn463Asp)	ARCN1 (N375D +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 718664	NM_001655.5(ARCN1):c.3+8C>T	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GBenign

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