ClinVar for MedGen (Select 896545) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25854071.	NM_016401.4(HIKESHI):c.344del (p.Val115fs) GRCh37: Chr11:86048496 GRCh38: Chr11:86337454	HIKESHI	V76fs, V115fs	Hypomyelinating leukodystrophy 13	Likely pathogenic	criteria provided, single submitter
Select item 10296002.	NM_016401.4(HIKESHI):c.325G>C (p.Ala109Pro) GRCh37: Chr11:86048477 GRCh38: Chr11:86337435	HIKESHI	A70P, A109P	Hypomyelinating leukodystrophy 13	Uncertain significance (Jan 10, 2019)	criteria provided, single submitter
Select item 2248913.	NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu) GRCh37: Chr11:86017416 GRCh38: Chr11:86306374	HIKESHI	V54L, V15L	HIKESHI-related condition, not provided	Pathogenic (Jun 13, 2023)	criteria provided, multiple submitters, no conflicts

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