"Center for Human Genetics, Inc, Center for Human Genetics, Inc"[submi - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 503991	NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer)	POLR2F, SOX10	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 547786	NM_006941.4(SOX10):c.1095dup (p.Pro366fs)	POLR2F, SOX10 (P366fs)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547785	NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter)	POLR2F, SOX10 (Q364*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 4C +1 more	GPathogenic
Select item 547784	NM_006941.4(SOX10):c.934dup (p.Ser312fs)	POLR2F, SOX10 (S312fs)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547783	NM_006941.4(SOX10):c.586G>T (p.Glu196Ter)	POLR2F, SOX10 (E196*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547782	NM_006941.4(SOX10):c.452G>C (p.Arg151Pro)	POLR2F, SOX10 (R151P)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547781	NM_006941.4(SOX10):c.426G>C (p.Trp142Cys)	POLR2F, SOX10 (W142C)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547780	NM_006941.4(SOX10):c.380dup (p.His128fs)	POLR2F, SOX10 (H128fs)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547779	NM_006941.4(SOX10):c.364C>G (p.Leu122Val)	POLR2F, SOX10 (L122V)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547778	NM_006941.4(SOX10):c.334A>G (p.Met112Val)	POLR2F, SOX10 (M112V)	Single nucleotide variant (missense variant +1 more)	PCWH syndrome +2 more	GUncertain significance
Select item 547777	NM_006941.4(SOX10):c.301A>T (p.Lys101Ter)	POLR2F, SOX10 (K101*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547776	NM_006941.4(SOX10):c.298_300delinsGG (p.Ser100fs)	POLR2F, SOX10 (S100fs)	Indel (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547775	NM_006941.4(SOX10):c.255_274dup (p.Val92fs)	POLR2F, SOX10 (V92fs)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 229266	NM_006941.4(SOX10):c.211T>G (p.Cys71Gly)	POLR2F, SOX10 (C71G)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 422859	NM_006941.4(SOX10):c.141del (p.Pro48fs)	POLR2F, SOX10 (P48fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 547774	NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)	POLR2F, SOX10 (R43*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E +2 more	GPathogenic