C1836727[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7400	NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa)	POLR2F, SOX10	Deletion (stop lost +1 more)	PCWH syndrome	GLikely pathogenic
Select item 7398	NM_006941.4(SOX10):c.939C>G (p.Tyr313Ter)	POLR2F, SOX10 (Y313*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GPathogenic
Select item 7412	NM_006941.4(SOX10):c.915del (p.His306fs)	POLR2F, SOX10 (H306fs)	Deletion (frameshift variant +1 more)	PCWH syndrome	GPathogenic
Select item 7411	NM_006941.4(SOX10):c.797del (p.Gly266fs)	POLR2F, SOX10 (G266fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 7399	NM_006941.4(SOX10):c.752C>A (p.Ser251Ter)	POLR2F, SOX10 (S251*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GPathogenic
Select item 7403	NM_006941.4(SOX10):c.748C>T (p.Gln250Ter)	POLR2F, SOX10 (Q250*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GPathogenic

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