C4225332[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254247	NM_013328.4(PYCR2):c.796C>T (p.Arg266Ter)	PYCR2 (R266* +1 more)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 10 +1 more	GPathogenic
Select item 254248	NM_013328.4(PYCR2):c.773T>C (p.Val258Ala)	PYCR2 (V184A +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 192394	NM_013328.4(PYCR2):c.751C>T (p.Arg251Cys)	PYCR2 (R251C +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GPathogenic
Select item 254250	NM_013328.4(PYCR2):c.694T>G (p.Cys232Gly)	PYCR2 (C232G +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GPathogenic
Select item 254249	NM_013328.4(PYCR2):c.595C>T (p.Arg199Trp)	PYCR2 (R199W +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 192393	NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys)	PYCR2 (R119C)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 10	GPathogenic

ClinVar