ClinVar for MedGen (Select 1623077) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061814	NM_032525.3(TUBB6):c.375G>C (p.Glu125Asp)	TUBB6 (E125D +3 more)	Single nucleotide variant (missense variant +2 more)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GUncertain significance
Select item 3061813	NM_032525.3(TUBB6):c.1228G>A (p.Glu410Lys)	TUBB6 (E264K +4 more)	Single nucleotide variant (missense variant +1 more)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GUncertain significance
Select item 1684209	NM_032525.3(TUBB6):c.165G>C (p.Ser55=)	TUBB6	Single nucleotide variant (synonymous variant +2 more)	TUBB6-related disorder +1 more	GBenign
Select item 1684208	NM_032525.3(TUBB6):c.57+29C>A	LOC130062196, TUBB6	Single nucleotide variant (intron variant)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GBenign
Select item 1684207	NM_032525.3(TUBB6):c.-19G>T	TUBB6	Single nucleotide variant (5 prime UTR variant)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GBenign
Select item 1684205	NM_032525.3(TUBB6):c.-47C>T	TUBB6	Single nucleotide variant (5 prime UTR variant +1 more)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GBenign
Select item 1684204	NM_032525.3(TUBB6):c.-49T>A	TUBB6	Single nucleotide variant (5 prime UTR variant +1 more)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GBenign
Select item 444894	NM_032525.3(TUBB6):c.1181T>C (p.Phe394Ser)	TUBB6 (F394S +4 more)	Single nucleotide variant (missense variant +1 more)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GPathogenic