"GeneDx"[submitter] AND "ARHGEF9"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	EDA2R, EFNB1 +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	LOC126863270, LOC126863271 +263 more	Copy number gain	See cases	GPathogenic
Select item 1249525	NM_001353921.2(ARHGEF9):c.*148CA[18]	ARHGEF9	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1276283	NM_001353921.2(ARHGEF9):c.*148CA[15]	ARHGEF9	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1247816	NM_001353921.2(ARHGEF9):c.*148CA[16]	ARHGEF9	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 383126	NM_001353921.2(ARHGEF9):c.*7C>G	ARHGEF9	Single nucleotide variant (3 prime UTR variant)	ARHGEF9-related condition +1 more	GLikely benign
Select item 1312058	NM_001353921.2(ARHGEF9):c.1558C>T (p.Pro520Ser)	ARHGEF9 (P331S +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1191697	NM_001353921.2(ARHGEF9):c.1546A>G (p.Ser516Gly)	ARHGEF9 (S327G +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 451050	NM_001353921.2(ARHGEF9):c.1540A>C (p.Asn514His)	ARHGEF9 (N507H +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 383699	NM_001353921.2(ARHGEF9):c.1506C>T (p.Thr502=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1305373	NM_001353921.2(ARHGEF9):c.1500G>T (p.Glu500Asp)	ARHGEF9 (E311D +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8 +1 more	GUncertain significance
Select item 1218587	NM_001353921.2(ARHGEF9):c.1492G>A (p.Val498Ile)	ARHGEF9 (V309I +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8 +1 more	GConflicting classifications of pathogenicity
Select item 465078	NM_001353921.2(ARHGEF9):c.1488G>A (p.Ser496=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8 +2 more	GLikely benign
Select item 383721	NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn)	ARHGEF9 (D484N +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1271958	NM_001353921.2(ARHGEF9):c.1390+249_1390+250dup	ARHGEF9	Duplication (intron variant)	not provided	GBenign
Select item 1208169	NM_001353921.2(ARHGEF9):c.1390+262del	ARHGEF9	Deletion (intron variant)	not provided	GLikely benign
Select item 1297398	NM_001353921.2(ARHGEF9):c.1390+224G>A	ARHGEF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218397	NM_001353921.2(ARHGEF9):c.1390+163C>T	ARHGEF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513792	NM_001353921.2(ARHGEF9):c.1386A>G (p.Gln462=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1216536	NM_001353921.2(ARHGEF9):c.1322-31A>G	ARHGEF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 633480	NM_001353921.2(ARHGEF9):c.1322-49T>G	ARHGEF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293321	NM_001353921.2(ARHGEF9):c.1322-133dup	ARHGEF9	Duplication (intron variant)	not provided	GBenign
Select item 1292942	NM_001353921.2(ARHGEF9):c.1322-133_1322-132dup	ARHGEF9	Duplication (intron variant)	not provided	GBenign
Select item 1216798	NM_001353921.2(ARHGEF9):c.1322-120del	ARHGEF9	Deletion (intron variant)	not provided	GLikely benign
Select item 1227107	NM_001353921.2(ARHGEF9):c.1322-190G>A	ARHGEF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304376	NM_001353921.2(ARHGEF9):c.1276G>C (p.Ala426Pro)	ARHGEF9 (A237P +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817341	NM_001353921.2(ARHGEF9):c.1261dup (p.Ile421fs)	ARHGEF9 (I377fs +10 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 426889	NM_001353921.2(ARHGEF9):c.1238T>C (p.Phe413Ser)	ARHGEF9 (F406S +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 383979	NM_001353921.2(ARHGEF9):c.1218T>A (p.Thr406=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 452155	NM_001353921.2(ARHGEF9):c.1175A>G (p.Asn392Ser)	ARHGEF9 (N385S +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 971668	NM_001353921.2(ARHGEF9):c.1126_1128dup (p.Asp376dup)	ARHGEF9	Duplication (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 985917	NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His)	ARHGEF9 (R183H +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 390234	NM_001353921.2(ARHGEF9):c.1078-18C>T	ARHGEF9	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1214541	NM_001353921.2(ARHGEF9):c.1078-324C>A	ARHGEF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388838	NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu)	ARHGEF9 (M347L +6 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8 +1 more	GConflicting classifications of pathogenicity
Select item 2580614	NM_001353921.2(ARHGEF9):c.1034G>T (p.Arg345Leu)	ARHGEF9 (R236L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1691741	NM_001353921.2(ARHGEF9):c.1034G>A (p.Arg345Gln)	ARHGEF9 (R236Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 225050	NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp)	ARHGEF9 (R338W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 391593	NM_001353921.2(ARHGEF9):c.1018G>A (p.Gly340Ser)	ARHGEF9 (G333S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 384539	NM_001353921.2(ARHGEF9):c.949G>A (p.Glu317Lys)	ARHGEF9 (E310K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 388020	NM_001353921.2(ARHGEF9):c.948C>A (p.Gly316=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 512332	NM_001353921.2(ARHGEF9):c.946-4C>A	ARHGEF9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 384100	NM_001353921.2(ARHGEF9):c.946-16C>T	ARHGEF9	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1198863	NM_001353921.2(ARHGEF9):c.946-333AG[13]	ARHGEF9	Microsatellite (intron variant)	not provided	GLikely 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 385764	NM_001353921.2(ARHGEF9):c.934C>A (p.Leu312Ile)	ARHGEF9 (L305I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431121	NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter)	ARHGEF9 (R289* +7 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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 426138	NM_001353921.2(ARHGEF9):c.820T>C (p.Tyr274His)	ARHGEF9 (Y267H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385871	NM_001353921.2(ARHGEF9):c.816-9T>C	ARHGEF9	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 511731	NM_001353921.2(ARHGEF9):c.816-12_816-11del	ARHGEF9	Deletion (intron variant)	Developmental and epileptic encephalopathy, 8 +1 more	GBenign/Likely benign
Select item 1189688	NM_001353921.2(ARHGEF9):c.815+302C>T	ARHGEF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199470	NM_001353921.2(ARHGEF9):c.815+175T>C	ARHGEF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387246	NM_001353921.2(ARHGEF9):c.777G>A (p.Gln259=)	ARHGEF9	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 8 +1 more	GLikely benign
Select item 1308914	NM_001353921.2(ARHGEF9):c.758T>C (p.Ile253Thr)	ARHGEF9 (I108T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388569	NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=)	ARHGEF9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 506927	NM_001353921.2(ARHGEF9):c.726C>A (p.Ile242=)	ARHGEF9	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2412954	NM_001353921.2(ARHGEF9):c.695G>A (p.Arg232His)	ARHGEF9 (R123H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056942	NM_001353921.2(ARHGEF9):c.694C>T (p.Arg232Cys)	ARHGEF9 (R123C +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128451	NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)	ARHGEF9	Single nucleotide variant (synonymous variant)	ARHGEF9-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1338257	NM_001353921.2(ARHGEF9):c.668G>A (p.Arg223His)	ARHGEF9 (R114H +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8 +2 more	GUncertain significance
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 533664	NM_001353921.2(ARHGEF9):c.583-11dup	ARHGEF9	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 384006	NM_001353921.2(ARHGEF9):c.583-18T>G	ARHGEF9	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1207628	NM_001353921.2(ARHGEF9):c.583-296del	ARHGEF9	Deletion (intron variant)	not provided	GLikely benign
Select item 1292939	NM_001353921.2(ARHGEF9):c.582+107A>G	ARHGEF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 579150	NM_001353921.2(ARHGEF9):c.582+1G>A	ARHGEF9	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 8 +1 more	GPathogenic
Select item 385107	NM_001353921.2(ARHGEF9):c.582C>T (p.His194=)	ARHGEF9	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 8 +3 more	GBenign/Likely benign
Select item 389108	NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=)	ARHGEF9	Single nucleotide variant (synonymous variant)	ARHGEF9-related condition +2 more	GLikely benign
Select item 389944	NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=)	ARHGEF9	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 385693	NM_001353921.2(ARHGEF9):c.561A>T (p.Ile187=)	ARHGEF9	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1059142	NM_001353921.2(ARHGEF9):c.499A>G (p.Met167Val)	ARHGEF9 (M100V +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8 +1 more	GUncertain significance
Select item 1306838	NM_001353921.2(ARHGEF9):c.430A>G (p.Arg144Gly)	ARHGEF9 (R116G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 389697	NM_001353921.2(ARHGEF9):c.389A>G (p.Lys130Arg)	ARHGEF9 (K123R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 434307	NM_001353921.2(ARHGEF9):c.372C>T (p.His124=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 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 432195	NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)	ARHGEF9 (R104Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 1306056	NM_001353921.2(ARHGEF9):c.305G>A (p.Arg102Gln)	ARHGEF9 (R102Q +5 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2442538	NM_001353921.2(ARHGEF9):c.295T>A (p.Cys99Ser)	ARHGEF9 (C105S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 392180	NM_001353921.2(ARHGEF9):c.289T>C (p.Cys97Arg)	ARHGEF9 (C90R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1678737	NM_001353921.2(ARHGEF9):c.259C>A (p.Gln87Lys)	ARHGEF9 (Q20K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1143986	NM_001353921.2(ARHGEF9):c.252C>T (p.Ser84=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8 +1 more	GLikely benign
Select item 514703	NM_001353921.2(ARHGEF9):c.234G>A (p.Glu78=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8 +1 more	GLikely benign
Select item 1326580	NM_001353921.2(ARHGEF9):c.222C>A (p.Asn74Lys)	ARHGEF9 (N14K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817527	NM_001353921.2(ARHGEF9):c.215G>A (p.Trp72Ter)	ARHGEF9 (W44* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1312993	NM_001353921.2(ARHGEF9):c.95G>T (p.Arg32Leu)	ARHGEF9 (R25L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2571910	NM_001353921.2(ARHGEF9):c.94C>G (p.Arg32Gly)	ARHGEF9 (R25G +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 8 +1 more	GUncertain significance
Select item 128450	NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val)	ARHGEF9 (I10V +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1298158	NM_001353921.2(ARHGEF9):c.31-160C>T	ARHGEF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512001	NM_001353921.2(ARHGEF9):c.31-29583C>A	ARHGEF9	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 387495	NM_001353921.2(ARHGEF9):c.31-29639A>T	ARHGEF9	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 510800	NM_001353921.2(ARHGEF9):c.31-29642del	ARHGEF9	Deletion (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1292941	NM_001353921.2(ARHGEF9):c.31-29709dup	ARHGEF9	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 507592	NM_001353921.2(ARHGEF9):c.24G>A (p.Ser8=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8 +2 more	GLikely benign
Select item 253919	GRCh37/hg19 Xq11.1-11.2(chrX:62862203-63490522)x3	AMER1, ASB12 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic

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