ClinVar for MedGen (Select 413042) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251968	NM_020435.4(GJC2):c.184G>C (p.Gly62Arg)	GJC2 (G62R)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2 +1 more	GUncertain significance
Select item 1363305	NM_020435.4(GJC2):c.1141_1151del (p.Ser381fs)	GJC2 (S381fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 44 +1 more	GPathogenic
Select item 943603	NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del)	GJC2	Deletion (inframe_deletion)	Spastic paraplegia	GUncertain significance
Select item 930587	NM_020435.4(GJC2):c.550_566del (p.Ala184fs)	GJC2 (A184fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 44	GLikely pathogenic
Select item 656694	NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs)	GJC2 (A379fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2 +2 more	GPathogenic/Likely pathogenic
Select item 445910	NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)	GJC2 (H412Y)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2 +7 more	GUncertain significance
Select item 441072	NM_020435.4(GJC2):c.1254_1258delinsCG (p.Lys418_Arg420delinsAsnGly)	GJC2	Indel (inframe_indel)	Hereditary spastic paraplegia 44	Gnot provided
Select item 235758	NM_020435.4(GJC2):c.108C>T (p.Ile36=)	GJC2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign
Select item 2078	NM_020435.4(GJC2):c.108C>G (p.Ile36Met)	GJC2 (I36M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 44	GPathogenic