ClinVar for MedGen (Select 333550) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803991	NM_000899.5(KITLG):c.106A>C (p.Asn36His)	KITLG (N36H)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GLikely pathogenic
Select item 1710166	NM_000899.5(KITLG):c.108T>G (p.Asn36Lys)	KITLG (N36K)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GPathogenic
Select item 1708119	NM_000899.5(KITLG):c.320T>A (p.Ile107Lys)	KITLG (I107K)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GUncertain significance
Select item 517646	NM_000899.5(KITLG):c.130-11dup	KITLG	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 183169	NM_000899.5(KITLG):c.100A>C (p.Thr34Pro)	KITLG (T34P)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GPathogenic
Select item 183168	NM_000899.5(KITLG):c.98T>C (p.Val33Ala)	KITLG (V33A)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GPathogenic
Select item 12813	NM_000899.5(KITLG):c.107A>G (p.Asn36Ser)	KITLG (N36S)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GPathogenic

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