"GeneDx"[submitter] AND "ARFGEF2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 220

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 667986	NM_006420.2(ARFGEF2):c.-330A>G	ARFGEF2	Single nucleotide variant	not provided	GBenign
Select item 1214235	NC_000020.11:g.48921698G>A	ARFGEF2	Single nucleotide variant	not provided	GLikely benign
Select item 338676	NM_006420.3(ARFGEF2):c.-94C>T	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GBenign
Select item 338679	NM_006420.3(ARFGEF2):c.-43G>A	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 896552	NM_006420.3(ARFGEF2):c.-39C>T	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 418016	NM_006420.3(ARFGEF2):c.-24_-1del	ARFGEF2, LOC130066080	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 377496	NM_006420.3(ARFGEF2):c.-27G>A	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 516307	NM_006420.3(ARFGEF2):c.-25C>T	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1216921	NM_006420.3(ARFGEF2):c.121+207C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217561	NM_006420.3(ARFGEF2):c.153-32C>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128433	NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser)	ARFGEF2 (P57S)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 210226	NM_006420.3(ARFGEF2):c.172C>T (p.Pro58Ser)	ARFGEF2 (P58S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1196766	NM_006420.3(ARFGEF2):c.276+99T>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211290	NM_006420.3(ARFGEF2):c.276+106G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673283	NM_006420.3(ARFGEF2):c.276+329del	ARFGEF2	Deletion (intron variant)	not provided	GBenign
Select item 1257451	NM_006420.3(ARFGEF2):c.277-121C>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205700	NM_006420.3(ARFGEF2):c.277-70G>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670369	NM_006420.3(ARFGEF2):c.277-59C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515718	NM_006420.3(ARFGEF2):c.285C>T (p.Ile95=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 514504	NM_006420.3(ARFGEF2):c.291C>T (p.Tyr97=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 813556	NM_006420.3(ARFGEF2):c.338G>A (p.Arg113Gln)	ARFGEF2 (R113Q)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 128440	NM_006420.3(ARFGEF2):c.423+3A>G	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive +2 more	GBenign/Likely benign
Select item 679352	NM_006420.3(ARFGEF2):c.424-130C>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382225	NM_006420.3(ARFGEF2):c.424-17G>A	ARFGEF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 136418	NM_006420.3(ARFGEF2):c.424-16C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 210244	NM_006420.3(ARFGEF2):c.493A>G (p.Thr165Ala)	ARFGEF2 (T165A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1215381	NM_006420.3(ARFGEF2):c.603+259TTTC[4]	ARFGEF2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1215723	NM_006420.3(ARFGEF2):c.603+285_603+298del	ARFGEF2	Deletion (intron variant)	not provided	GLikely benign
Select item 1227261	NM_006420.3(ARFGEF2):c.603+282T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206623	NM_006420.3(ARFGEF2):c.604-35C>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 5050	NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)	ARFGEF2 (E209K)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 183282	NM_006420.3(ARFGEF2):c.656dup (p.Val220fs)	ARFGEF2 (V220fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 898183	NM_006420.3(ARFGEF2):c.694C>T (p.Arg232Cys)	ARFGEF2 (R232C)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 1312024	NM_006420.3(ARFGEF2):c.710A>G (p.Gln237Arg)	ARFGEF2 (Q237R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315028	NM_006420.3(ARFGEF2):c.757G>A (p.Gly253Ser)	ARFGEF2 (G253S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506913	NM_006420.3(ARFGEF2):c.770G>A (p.Arg257Lys)	ARFGEF2 (R257K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 128445	NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 128446	NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala)	ARFGEF2 (P271A)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 259981	NM_006420.3(ARFGEF2):c.839-20A>G	ARFGEF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 338682	NM_006420.3(ARFGEF2):c.847G>A (p.Asp283Asn)	ARFGEF2 (D283N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128430	NM_006420.3(ARFGEF2):c.907+9C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 384310	NM_006420.3(ARFGEF2):c.907+17A>G	ARFGEF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 667987	NM_006420.3(ARFGEF2):c.907+264T>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218268	NM_006420.3(ARFGEF2):c.907+292C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667988	NM_006420.3(ARFGEF2):c.908-284T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669387	NM_006420.3(ARFGEF2):c.908-280G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669388	NM_006420.3(ARFGEF2):c.908-269G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236284	NM_006420.3(ARFGEF2):c.908-161C>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389373	NM_006420.3(ARFGEF2):c.955G>A (p.Glu319Lys)	ARFGEF2 (E319K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185856	NM_006420.3(ARFGEF2):c.1059+171C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678019	NM_006420.3(ARFGEF2):c.1059+225T>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674154	NM_006420.3(ARFGEF2):c.1060-152A>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670925	NM_006420.3(ARFGEF2):c.1060-42T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1033101	NM_006420.3(ARFGEF2):c.1105G>A (p.Val369Ile)	ARFGEF2 (V369I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 210224	NM_006420.3(ARFGEF2):c.1185C>T (p.Asp395=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1188238	NM_006420.3(ARFGEF2):c.1190+6C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1193000	NM_006420.3(ARFGEF2):c.1190+70C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128427	NM_006420.3(ARFGEF2):c.1275C>T (p.His425=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 393009	NM_006420.3(ARFGEF2):c.1289A>G (p.Asn430Ser)	ARFGEF2 (N430S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 338686	NM_006420.3(ARFGEF2):c.1294A>G (p.Ile432Val)	ARFGEF2 (I432V)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 2443384	NM_006420.3(ARFGEF2):c.1420A>T (p.Ile474Leu)	ARFGEF2 (I473L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 338687	NM_006420.3(ARFGEF2):c.1425+11C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 338688	NM_006420.3(ARFGEF2):c.1425+15G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 667989	NM_006420.3(ARFGEF2):c.1425+266G>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195796	NM_006420.3(ARFGEF2):c.1487G>A (p.Arg496Lys)	ARFGEF2 (R496K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210225	NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 678157	NM_006420.3(ARFGEF2):c.1525+160T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214916	NM_006420.3(ARFGEF2):c.1525+192C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213348	NM_006420.3(ARFGEF2):c.1526-197A>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194036	NM_006420.3(ARFGEF2):c.1526-182G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1329690	NM_006420.3(ARFGEF2):c.1526-3A>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 128432	NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 679355	NM_006420.3(ARFGEF2):c.1666-221C>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238743	NM_006420.3(ARFGEF2):c.1775-203G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215247	NM_006420.3(ARFGEF2):c.1775-47G>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 210228	NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile)	ARFGEF2 (V630I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1200812	NM_006420.3(ARFGEF2):c.1947C>T (p.His649=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434278	NM_006420.3(ARFGEF2):c.1953C>T (p.Ile651=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 386965	NM_006420.3(ARFGEF2):c.1958+6T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1191487	NM_006420.3(ARFGEF2):c.1958+158G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185962	NM_006420.3(ARFGEF2):c.1958+165T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292936	NM_006420.3(ARFGEF2):c.1959-52A>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2578220	NM_006420.3(ARFGEF2):c.1979G>C (p.Arg660Thr)	ARFGEF2 (R659T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384296	NM_006420.3(ARFGEF2):c.2010G>A (p.Met670Ile)	ARFGEF2 (M670I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235633	NM_006420.3(ARFGEF2):c.2070+132A>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293086	NM_006420.3(ARFGEF2):c.2071-249G>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226150	NM_006420.3(ARFGEF2):c.2071-240G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207413	NM_006420.3(ARFGEF2):c.2071-25A>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1309761	NM_006420.3(ARFGEF2):c.2071-11G>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 389701	NM_006420.3(ARFGEF2):c.2100C>T (p.Ser700=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 385560	NM_006420.3(ARFGEF2):c.2106G>T (p.Arg702Ser)	ARFGEF2 (R702S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271232	NM_006420.3(ARFGEF2):c.2276+189A>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182062	NM_006420.3(ARFGEF2):c.2277-265C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274450	NM_006420.3(ARFGEF2):c.2277-241C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259979	NM_006420.3(ARFGEF2):c.2277-16G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1314468	NM_006420.3(ARFGEF2):c.2407G>T (p.Gly803Cys)	ARFGEF2 (G803C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303599	NM_006420.3(ARFGEF2):c.2504T>A (p.Leu835Gln)	ARFGEF2 (L835Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196486	NM_006420.3(ARFGEF2):c.2533+29T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193389	NM_006420.3(ARFGEF2):c.2533+59A>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216112	NM_006420.3(ARFGEF2):c.2533+151_2533+152insA	ARFGEF2	Insertion (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 3