ClinVar for OMIM (Select 619688) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333094	NM_018150.4(RNF220):c.1088G>A (p.Arg363Gln)	RNF220 (R363Q +3 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy	GPathogenic
Select item 1333093	NM_018150.4(RNF220):c.1094G>A (p.Arg365Gln)	RNF220 (R365Q +3 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy	GPathogenic