C0270914[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66901	NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)	LMNA, LOC126805877 (R166P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GPathogenic/Likely pathogenic
Select item 163878	NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	LMNA (R545H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +24 more	GConflicting classifications of pathogenicity
Select item 14485	NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)	LMNA (R571S +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1678584	NM_007289.4(MME):c.1094+5G>T	MME	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 840979	NM_001122955.4(BSCL2):c.1033C>T (p.Arg345Trp)	BSCL2, HNRNPUL2-BSCL2 (R281W +1 more)	Single nucleotide variant (missense variant +2 more)	BSCL2-related condition +2 more	GUncertain significance
Select item 1682085	NM_001605.3(AARS1):c.2757G>A (p.Trp919Ter)	AARS1 (W919*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2N +2 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

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