ClinVar for MedGen (Select 1809587) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25045921.	NM_000899.5(KITLG):c.15+6T>C GRCh37: Chr12:88974035 GRCh38: Chr12:88580258	KITLG		Waardenburg syndrome, IIa 2F	Uncertain significance (Dec 9, 2020)	criteria provided, single submitter
Select item 16935562.	NM_000899.5(KITLG):c.550_551del (p.Met184fs) GRCh37: Chr12:88909364-88909365 GRCh38: Chr12:88515587-88515588	KITLG	M184fs	Waardenburg syndrome, IIa 2F	Pathogenic (Jul 5, 2022)	no assertion criteria provided
Select item 16935553.	NM_000899.5(KITLG):c.443T>C (p.Ile148Thr) GRCh37: Chr12:88910188 GRCh38: Chr12:88516411	KITLG		Waardenburg syndrome, IIa 2F	Pathogenic (Jul 5, 2022)	no assertion criteria provided
Select item 16935544.	NM_000899.5(KITLG):c.94C>T (p.Arg32Cys) GRCh37: Chr12:88939564 GRCh38: Chr12:88545787	KITLG		Waardenburg syndrome, IIa 2F	Pathogenic (Jul 5, 2022)	no assertion criteria provided

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