ClinVar for MedGen (Select 811705) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24310381.	NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter) GRCh37: Chr15:48427085 GRCh38: Chr15:48134888	MYEF2, SLC24A5	S165*	Oculocutaneous albinism type 6	Pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 4404842.	NM_205850.3(SLC24A5):c.521G>A (p.Arg174Lys) GRCh37: Chr15:48427112 GRCh38: Chr15:48134915	MYEF2, SLC24A5	R174K	Oculocutaneous albinism type 6	Pathogenic (Sep 21, 2022)	no assertion criteria provided
Select item 4404833.	NM_205850.3(SLC24A5):c.641del (p.Leu214fs) GRCh37: Chr15:48428930 GRCh38: Chr15:48136733	MYEF2, SLC24A5	L214fs	not provided	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 4367424.	NM_205850.3(SLC24A5):c.528T>A (p.Cys176Ter) GRCh37: Chr15:48427119 GRCh38: Chr15:48134922	MYEF2, SLC24A5	C176*	Oculocutaneous albinism type 6	Pathogenic (Jan 17, 2017)	criteria provided, single submitter
Select item 605605.	NM_205850.3(SLC24A5):c.1361dup (p.Leu454fs) GRCh37: Chr15:48434399-48434400 GRCh38: Chr15:48142202-48142203	MYEF2, SLC24A5	L454fs	not provided	Likely pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 605596.	NM_205850.3(SLC24A5):c.591G>A (p.Trp197Ter) GRCh37: Chr15:48428880 GRCh38: Chr15:48136683	MYEF2, SLC24A5	W197*	Oculocutaneous albinism type 6	Pathogenic (Jul 1, 2013)	no assertion criteria provided

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