"PreventionGenetics, part of Exact Sciences"[submitter] AND "ARHGEF9"[ - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 383126	NM_001353921.2(ARHGEF9):c.*7C>G	ARHGEF9	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 465075	NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val)	ARHGEF9 (I402V +10 more)	Single nucleotide variant (missense variant +1 more)	ARHGEF9-related disorder +2 more	GLikely benign
Select item 512332	NM_001353921.2(ARHGEF9):c.946-4C>A	ARHGEF9	Single nucleotide variant (intron variant)	ARHGEF9-related disorder +3 more	GBenign/Likely benign
Select item 383604	NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu)	ARHGEF9 (D306E +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 385131	NM_001353921.2(ARHGEF9):c.885G>A (p.Lys295=)	ARHGEF9	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 128451	NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)	ARHGEF9	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 8 +4 more	GConflicting classifications of pathogenicity
Select item 931474	NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val)	ARHGEF9 (L73V +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8 +2 more	GUncertain significance
Select item 389108	NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=)	ARHGEF9	Single nucleotide variant (synonymous variant)	ARHGEF9-related disorder +2 more	GLikely benign
Select item 2633227	NM_001353921.2(ARHGEF9):c.503G>A (p.Gly168Asp)	ARHGEF9 (G101D +7 more)	Single nucleotide variant (missense variant)	ARHGEF9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1091918	NM_001353921.2(ARHGEF9):c.366G>A (p.Glu122=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8 +2 more	GLikely benign
Select item 2637150	NM_001353921.2(ARHGEF9):c.30+29959G>A	ARHGEF9, LOC121627974	Single nucleotide variant (intron variant +1 more)	ARHGEF9-related disorder	GUncertain significance
Select item 507592	NM_001353921.2(ARHGEF9):c.24G>A (p.Ser8=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign