"Centogene AG - the Rare Disease Company"[submitter] AND "PYCR1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 694712	NM_006907.4(PYCR1):c.540+1G>A	PYCR1	Single nucleotide variant (splice donor variant)	Autosomal recessive cutis laxa type 2B +2 more	GPathogenic
Select item 974888	NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs)	PYCR1 (I101fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive cutis laxa type 2B	GLikely pathogenic