ARHGEF9[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983380	NM_001353921.2(ARHGEF9):c.*2684A>G	ARHGEF9	Single nucleotide variant (3 prime UTR variant)	Global developmental delay	GUncertain significance
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 633481	NM_001353921.2(ARHGEF9):c.*146G>C	ARHGEF9	Single nucleotide variant (3 prime UTR variant)	Epilepsy	GLikely benign
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 1047389	NM_001353921.2(ARHGEF9):c.1561T>C (p.Phe521Leu)	ARHGEF9 (F454L +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
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 2790421	NM_001353921.2(ARHGEF9):c.1551G>A (p.Arg517=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2046554	NM_001353921.2(ARHGEF9):c.1548C>T (p.Ser516=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GBenign
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 533661	NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter)	ARHGEF9 (W505* +10 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 1346232	NM_001353921.2(ARHGEF9):c.1533C>G (p.Phe511Leu)	ARHGEF9 (F322L +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 589378	NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1538936	NM_001353921.2(ARHGEF9):c.1518C>T (p.Arg506=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2898057	NM_001353921.2(ARHGEF9):c.1517G>A (p.Arg506His)	ARHGEF9 (R446H +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	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 2106405	NM_001353921.2(ARHGEF9):c.1497T>C (p.Phe499=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 1301616	NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu)	ARHGEF9 (F310L +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GConflicting classifications of pathogenicity
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 1161327	NM_001353921.2(ARHGEF9):c.1490A>G (p.Gln497Arg)	ARHGEF9 (Q308R +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
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 590128	NM_001353921.2(ARHGEF9):c.1482T>C (p.Ala494=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8 +1 more	GLikely benign
Select item 533663	NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr)	ARHGEF9 (A487T +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1103597	NM_001353921.2(ARHGEF9):c.1479C>T (p.Ile493=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8 +1 more	GLikely benign
Select item 579449	NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser)	ARHGEF9 (G485S +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8 +1 more	GUncertain significance
Select item 1168065	NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu)	ARHGEF9 (D302E +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GBenign
Select item 1113868	NM_001353921.2(ARHGEF9):c.1473C>T (p.Asp491=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	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 2189288	NM_001353921.2(ARHGEF9):c.1470C>T (p.Pro490=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 988753	NM_001353921.2(ARHGEF9):c.1469C>T (p.Pro490Leu)	ARHGEF9 (P301L +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 653238	NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu)	ARHGEF9 (V300L +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2072170	NM_001353921.2(ARHGEF9):c.1453G>A (p.Gly485Ser)	ARHGEF9 (G376S +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 1590711	NM_001353921.2(ARHGEF9):c.1452C>T (p.His484=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1519896	NM_001353921.2(ARHGEF9):c.1448A>G (p.Asn483Ser)	ARHGEF9 (N294S +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 1990925	NM_001353921.2(ARHGEF9):c.1443G>T (p.Pro481=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 697811	NM_001353921.2(ARHGEF9):c.1443G>A (p.Pro481=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2187132	NM_001353921.2(ARHGEF9):c.1442C>T (p.Pro481Leu)	ARHGEF9 (P372L +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2698228	NM_001353921.2(ARHGEF9):c.1435C>T (p.Gln479Ter)	ARHGEF9 (Q370* +10 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 1565218	NM_001353921.2(ARHGEF9):c.1434G>A (p.Pro478=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 653302	NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu)	ARHGEF9 (P411L +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GBenign
Select item 2086900	NM_001353921.2(ARHGEF9):c.1423dup (p.Tyr475fs)	ARHGEF9 (Y424fs +10 more)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 2660738	NM_001353921.2(ARHGEF9):c.1420T>G (p.Ser474Ala)	ARHGEF9 (S285A +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 465077	NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro)	ARHGEF9 (S467P +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 1380224	NM_001353921.2(ARHGEF9):c.1417C>T (p.Pro473Ser)	ARHGEF9 (P422S +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 1327405	NM_001353921.2(ARHGEF9):c.1409C>G (p.Ser470Ter)	ARHGEF9 (S281* +10 more)	Single nucleotide variant (nonsense +1 more)	ARHGEF9-Related Disorder	Gnot provided
Select item 1009350	NM_001353921.2(ARHGEF9):c.1409C>T (p.Ser470Leu)	ARHGEF9 (S281L +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2795044	NM_001353921.2(ARHGEF9):c.1406G>A (p.Arg469His)	ARHGEF9 (R280H +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 975184	NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys)	ARHGEF9 (R280C +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 567411	NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser)	ARHGEF9 (A461S +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GBenign
Select item 1393668	NM_001353921.2(ARHGEF9):c.1397A>G (p.Asn466Ser)	ARHGEF9 (N357S +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 1044846	NM_001353921.2(ARHGEF9):c.1391-4C>G	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 1096829	NM_001353921.2(ARHGEF9):c.1391-5T>C	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 735113	NM_001353921.2(ARHGEF9):c.1391-7A>G	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 1589241	NM_001353921.2(ARHGEF9):c.1391-12C>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2094065	NM_001353921.2(ARHGEF9):c.1391-14C>A	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
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 1597674	NM_001353921.2(ARHGEF9):c.1390+18A>G	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2111497	NM_001353921.2(ARHGEF9):c.1390+13C>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 1615278	NM_001353921.2(ARHGEF9):c.1390+11C>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 1770982	NM_001353921.2(ARHGEF9):c.1390+2T>A	ARHGEF9	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 655101	NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
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 2131210	NM_001353921.2(ARHGEF9):c.1378C>T (p.Pro460Ser)	ARHGEF9 (P271S +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2853863	NM_001353921.2(ARHGEF9):c.1362G>T (p.Met454Ile)	ARHGEF9 (M265I +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2846675	NM_001353921.2(ARHGEF9):c.1354G>C (p.Ala452Pro)	ARHGEF9 (A385P +11 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 813791	NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)	ARHGEF9 (Q384* +10 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 952590	NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val)	ARHGEF9 (I335V +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1448297	NM_001353921.2(ARHGEF9):c.1326T>A (p.Phe442Leu)	ARHGEF9 (F391L +11 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 1394117	NM_001353921.2(ARHGEF9):c.1322G>T (p.Gly441Val)	ARHGEF9 (A332S +11 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2705490	NM_001353921.2(ARHGEF9):c.1322-10del	ARHGEF9	Deletion (intron variant)	Developmental and epileptic encephalopathy, 8	GBenign
Select item 1669967	NM_001353921.2(ARHGEF9):c.1322-10T>C	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 1464485	NM_001353921.2(ARHGEF9):c.1322-17A>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	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 2176732	NM_001353921.2(ARHGEF9):c.1321+18A>G	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2719879	NM_001353921.2(ARHGEF9):c.1321+16G>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GBenign
Select item 2693577	NM_001353921.2(ARHGEF9):c.1321+5G>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 985341	NM_001353921.2(ARHGEF9):c.1321G>A (p.Gly441Ser)	ARHGEF9 (G252S +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 804241	NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)	ARHGEF9 (E247fs +10 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 1718697	NM_001353921.2(ARHGEF9):c.1300G>T (p.Val434Leu)	ARHGEF9 (V245L +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 570360	NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu)	ARHGEF9 (K425E +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 465076	NM_001353921.2(ARHGEF9):c.1293G>A (p.Arg431=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
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 2104534	NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)	ARHGEF9 (W234* +10 more)	Single nucleotide variant (nonsense +1 more)	Developmental disorder +1 more	GPathogenic
Select item 992869	NM_001353921.2(ARHGEF9):c.1268G>A (p.Trp423Ter)	ARHGEF9 (W234* +10 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 1135830	NM_001353921.2(ARHGEF9):c.1257A>G (p.Glu419=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 3022920	NM_001353921.2(ARHGEF9):c.1251G>A (p.Leu417=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 952743	NM_001353921.2(ARHGEF9):c.1248G>T (p.Lys416Asn)	ARHGEF9 (K349N +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 1079830	NM_001353921.2(ARHGEF9):c.1245G>A (p.Lys415=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign

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