C2132198[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)	Abnormal dental enamel morphology +19 more	GPathogenic
Select item 373956	NM_001122764.3(PPOX):c.1281G>A (p.Trp427Ter)	PPOX (W427* +4 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 523355	NM_001122764.3(PPOX):c.1353T>G (p.Tyr451Ter)	PPOX (Y451* +4 more)	Single nucleotide variant (nonsense)	Abnormal blistering of the skin +3 more	GPathogenic
Select item 17463	NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	COL7A1 (R2069C)	Single nucleotide variant (missense variant)	COL7A1-related condition +23 more	GPathogenic/Likely pathogenic
Select item 523330	NM_000094.4(COL7A1):c.5532+67A>G	COL7A1	Single nucleotide variant (intron variant)	Abnormal blistering of the skin	GUncertain significance
Select item 374052	NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)	COL7A1 (R669*)	Single nucleotide variant (nonsense)	not provided +16 more	GPathogenic
Select item 17462	NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)	COL7A1 (R236*)	Single nucleotide variant (nonsense)	not provided +15 more	GPathogenic

ClinVar