"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PYCR2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 770123	NM_013328.4(PYCR2):c.924C>G (p.Leu308=)	PYCR2	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 10 +2 more	GBenign/Likely benign
Select item 429628	NM_013328.4(PYCR2):c.356G>A (p.Arg119His)	PYCR2 (R119H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1357942	NM_013328.4(PYCR2):c.309del (p.Val104fs)	PYCR2 (V104fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

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