"Revvity Omics, Revvity"[submitter] AND "GJC2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30759	NC_000001.11:g.228149860A>G	GJC2	Single nucleotide variant	Hypomyelinating leukodystrophy 2 +2 more	GPathogenic/Likely pathogenic
Select item 1416610	NM_020435.4(GJC2):c.343C>T (p.Arg115Cys)	GJC2 (R115C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432126	NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)	GJC2 (G134S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2432123	NM_020435.4(GJC2):c.512A>C (p.Glu171Ala)	GJC2 (E171A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432127	NM_020435.4(GJC2):c.659G>A (p.Arg220Lys)	GJC2 (R220K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432124	NM_020435.4(GJC2):c.830T>C (p.Leu277Pro)	GJC2 (L277P)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2076	NM_020435.4(GJC2):c.914_947del (p.Pro305fs)	GJC2 (P305fs)	Deletion (frameshift variant)	not provided	GPathogenic

ClinVar