C1860339[trait identifier] AND "Laboratory of Human Genetics, Universi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488040	NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)	MITF (R110* +6 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 372755	NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)	MITF (R255* +9 more)	Single nucleotide variant (nonsense)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GPathogenic/Likely pathogenic
Select item 16638	NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)	EDNRB, EDNRB-AS1 (S305N +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 488041	NM_006941.4(SOX10):c.1091del (p.Gln364fs)	POLR2F, SOX10 (Q364fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2A	GLikely pathogenic
Select item 488042	NM_006941.4(SOX10):c.430del (p.Leu144fs)	POLR2F, SOX10 (L144fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2A	GLikely pathogenic
Select item 488043	NM_006941.4(SOX10):c.403A>C (p.Ser135Arg)	POLR2F, SOX10 (S135R)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A	GLikely pathogenic
Select item 488044	NM_006941.4(SOX10):c.44_62del (p.Val15fs)	POLR2F, SOX10 (V15fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2A +1 more	GPathogenic/Likely pathogenic

ClinVar