ClinVar for MedGen (Select 870430) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523447	NM_002016.2(FLG):c.10012A>T (p.Ser3338Cys)	FLG, FLG-AS1 (S3338C)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +4 more	GUncertain significance
Select item 523329	NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln)	COL7A1 (R682Q)	Single nucleotide variant (missense variant)	Palmoplantar blistering +2 more	GConflicting classifications of pathogenicity
Select item 374053	NM_000094.4(COL7A1):c.8047G>A (p.Gly2683Ser)	COL7A1 (G2683S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa pruriginosa +4 more	GLikely pathogenic
Select item 374052	NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)	COL7A1 (R669*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa pruriginosa +16 more	GPathogenic
Select item 161226	NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	DSP (A566T)	Single nucleotide variant (missense variant)	Palmoplantar blistering +11 more	GConflicting classifications of pathogenicity
Select item 66306	NM_000526.5(KRT14):c.1162C>T (p.Arg388Cys)	KRT14 (R388C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 44931	NM_004415.4(DSP):c.5744G>A (p.Arg1915His)	DSP (R1915H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity

ClinVar