C0393808[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 637201	NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)	GJB1 (L25F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 976021	NM_000166.6(GJB1):c.467T>A (p.Leu156His)	GJB1 (L156H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 637168	NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)	GJB1 (P172A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 1329876	NM_000166.6(GJB1):c.619G>C (p.Ala207Pro)	GJB1 (A207P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 246098	NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)	GJB1 (R215W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic
Select item 1285575	NM_000166.6(GJB1):c.646G>A (p.Ala216Thr)	GJB1 (A216T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance

ClinVar