"Eurofins Ntd Llc (ga)"[submitter] AND "ARHGEF9"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 588483	NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val)	ARHGEF9 (M388V +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 285004	NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8 +2 more	GConflicting classifications of pathogenicity
Select item 282808	NM_001353921.2(ARHGEF9):c.1112G>T (p.Gly371Val)	ARHGEF9 (G364V +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 128451	NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)	ARHGEF9	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 465080	NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8 +3 more	GConflicting classifications of pathogenicity
Select item 501568	NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)	ARHGEF9 (R104W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287121	NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser)	ARHGEF9 (N87S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 502178	NM_001353921.2(ARHGEF9):c.99G>A (p.Glu33=)	ARHGEF9	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance