"Baylor Genetics"[submitter] AND "ARHGEF10"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031837	NM_014629.4(ARHGEF10):c.121G>T (p.Glu41Ter)	ARHGEF10 (E65* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 1029283	NM_014629.4(ARHGEF10):c.1343A>G (p.Glu448Gly)	ARHGEF10 (E410G +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 374306	NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn)	ARHGEF10 (S688N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388721	NM_014629.4(ARHGEF10):c.2134G>T (p.Ala712Ser)	ARHGEF10 (A712S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 625670	GRCh37/hg19 8p23.3-23.1(chr8:184617-6804328)	AGPAT5, ANGPT2 +15 more	Copy number gain	not provided	GPathogenic
Select item 625669	GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)	AGPAT5, ANGPT2 +37 more	Copy number loss	Tetralogy of Fallot	GPathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 625667	GRCh37/hg19 8p23.3(chr8:184617-2136799)	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GLikely pathogenic

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