C0302319[trait identifier] AND "Yale Center for Mendelian Genomics, Ya - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344671	NM_006556.4(PMVK):c.379C>T (p.Gln127Ter)	PMVK (Q113* +2 more)	Single nucleotide variant (nonsense)	Linear porokeratosis	GLikely pathogenic
Select item 1344669	NM_006556.4(PMVK):c.329G>A (p.Arg110Gln)	PMVK (R110Q +2 more)	Single nucleotide variant (missense variant)	Linear porokeratosis	GLikely pathogenic
Select item 1012741	NM_006556.4(PMVK):c.79G>T (p.Glu27Ter)	PMVK (E27*)	Single nucleotide variant (5 prime UTR variant +2 more)	Porokeratosis 1, Mibelli type +2 more	GPathogenic/Likely pathogenic
Select item 1344672	NM_002461.3(MVD):c.811_815del (p.Phe271fs)	MVD (F271fs)	Deletion (frameshift variant)	Linear porokeratosis	GLikely pathogenic
Select item 1344813	NM_002461.3(MVD):c.70+5G>A	LOC130059740, MVD	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity

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