C0007959[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1005403	NM_000530.8(MPZ):c.645G>A (p.Gln215=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 3068610	NM_021629.4(GNB4):c.232A>C (p.Lys78Gln)	GNB4 (K78Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 866457	NM_002109.6(HARS1):c.1156G>A (p.Val386Met)	HARS1 (V326M +6 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 220419	NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)	HSPB1 (G84R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 637418	NM_004863.4(SPTLC2):c.1151C>T (p.Ser384Phe)	SPTLC2 (S384F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1751820	NM_001365088.1(SLC12A6):c.1216T>C (p.Trp406Arg)	SLC12A6 (W347R +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 665395	NM_001136472.2(LITAF):c.371T>C (p.Leu124Pro)	LITAF (L124P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 1682248	NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr)	AARS1 (D394Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 217166	NM_000166.6(GJB1):c.-103C>T	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic
Select item 406228	NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	GJB1 (R22Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 449355	NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)	GJB1 (F141L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1206276	NM_001939.3(DRP2):c.1454+5G>A	DRP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GBenign