ClinVar for MedGen (Select 432987) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 65483	NM_006941.4(SOX10):c.2T>G (p.Met1Arg)	POLR2F, SOX10 (M1R)	Single nucleotide variant (missense variant +2 more)	Waardenburg syndrome type 2E, without neurologic involvement	GPathogenic
Select item 30255	NM_006941.4(SOX10):c.113del (p.Gly38fs)	POLR2F, SOX10 (G38fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2E, without neurologic involvement	GPathogenic
Select item 30254	NM_006941.4(SOX10):c.743_744del (p.Glu248fs)	POLR2F, SOX10 (E248fs)	Microsatellite (frameshift variant +1 more)	Waardenburg syndrome type 2E, without neurologic involvement	GPathogenic
Select item 7407	NM_006941.4(SOX10):c.506del (p.Pro169fs)	POLR2F, SOX10 (P169fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2E, without neurologic involvement	GPathogenic
Select item 7406	NM_006941.4(SOX10):c.429-1112_697+396del	POLR2F, SOX10	Deletion (intron variant +2 more)	Waardenburg syndrome type 2E, without neurologic involvement	GPathogenic
Select item 7405	NM_006941.4(SOX10):c.219_428+43del	POLR2F, SOX10	Deletion (intron variant +1 more)	Waardenburg syndrome type 2E, without neurologic involvement	GPathogenic
Select item 7397	NM_006941.4(SOX10):c.404G>C (p.Ser135Thr)	POLR2F, SOX10 (S135T)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E, without neurologic involvement	GPathogenic

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