C0262444[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2276	NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	MFN2 (R94W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +19 more	GPathogenic
Select item 523423	NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)	SATB2 (R552fs)	Microsatellite (frameshift variant)	not provided +6 more	GPathogenic
Select item 17463	NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	COL7A1 (R2069C)	Single nucleotide variant (missense variant)	Decreased body weight +23 more	GPathogenic/Likely pathogenic
Select item 17462	NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)	COL7A1 (R236*)	Single nucleotide variant (nonsense)	not provided +15 more	GPathogenic
Select item 2547	NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	LOC126862264, MEFV (K695R)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 523435	NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	PRMT7 (E108* +2 more)	Single nucleotide variant (nonsense +2 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome +17 more	GPathogenic/Likely pathogenic
Select item 523434	NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	PRMT7 (C571* +4 more)	Single nucleotide variant (nonsense +1 more)	Acanthosis nigricans +14 more	GPathogenic
Select item 279598	NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	ADNP (R730*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

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