"GeneDx"[submitter] AND "ARFGEF1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 107

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 152916	GRCh38/hg38 8q13.1-13.2(chr8:66968881-67271875)x3	ARFGEF1, COPS5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1270546	NM_001382391.1(CSPP1):c.2969-252A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210907	NM_001382391.1(CSPP1):c.2969-113A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2501955	NM_001382391.1(CSPP1):c.2969-3C>G	ARFGEF1, CSPP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 939297	NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln)	ARFGEF1, CSPP1 (R929Q +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 937240	NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser)	ARFGEF1, CSPP1 (T1005S +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 850162	NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu)	ARFGEF1, CSPP1 (K1009E +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 507370	NM_001382391.1(CSPP1):c.3109+18C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1204813	NM_001382391.1(CSPP1):c.3109+39C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516532	NM_001382391.1(CSPP1):c.3110-11A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21 +2 more	GBenign
Select item 422290	NM_001382391.1(CSPP1):c.3110-1G>A	CSPP1, ARFGEF1	Single nucleotide variant (splice acceptor variant +1 more)	Joubert syndrome 21 +1 more	GLikely pathogenic
Select item 1416011	NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val)	ARFGEF1, CSPP1 (I1064V +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 379767	NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1710751	NM_001382391.1(CSPP1):c.3140T>C (p.Val1047Ala)	ARFGEF1, CSPP1 (V1009A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342314	NM_001382391.1(CSPP1):c.3145G>A (p.Glu1049Lys)	ARFGEF1, CSPP1 (E1011K +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 434844	NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21 +2 more	GBenign/Likely benign
Select item 860310	NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser)	ARFGEF1, CSPP1 (N1025S +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +2 more	GUncertain significance
Select item 380565	NM_001382391.1(CSPP1):c.3220+13A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1276987	NM_001382391.1(CSPP1):c.3220+110dup	ARFGEF1, CSPP1	Duplication (intron variant)	not provided	GBenign
Select item 1230143	NM_001382391.1(CSPP1):c.3220+108_3220+110del	ARFGEF1, CSPP1	Deletion (intron variant)	not provided	GBenign
Select item 1288861	NM_001382391.1(CSPP1):c.3221-272A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191021	NM_001382391.1(CSPP1):c.3221-254G>C	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208924	NM_001382391.1(CSPP1):c.3221-138G>A	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511950	NM_001382391.1(CSPP1):c.3221-19C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 432417	NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val)	ARFGEF1, CSPP1 (A1077V +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 380774	NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21 +1 more	GBenign/Likely benign
Select item 510229	NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly)	ARFGEF1, CSPP1 (E1094G +7 more)	Single nucleotide variant (missense variant)	Global developmental delay +7 more	GConflicting classifications of pathogenicity
Select item 379419	NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg)	ARFGEF1, CSPP1 (W1100R +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +2 more	GBenign
Select item 1482480	NM_001382391.1(CSPP1):c.3330+1G>C	ARFGEF1, CSPP1	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1292914	NM_001382391.1(CSPP1):c.3330+237C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223309	NM_001382391.1(CSPP1):c.3330+238T>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202330	NM_001382391.1(CSPP1):c.3331-220G>A	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267734	NM_001382391.1(CSPP1):c.3331-94C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679630	NM_001382391.1(CSPP1):c.3331-37G>A	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 983071	NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His)	ARFGEF1, CSPP1 (R1022H +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 426386	NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del)	ARFGEF1, CSPP1 (V1127del +7 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 390528	NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1693455	NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter)	ARFGEF1, CSPP1 (R1050* +7 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 503847	NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs)	ARFGEF1, CSPP1 (T1064fs +7 more)	Duplication (frameshift variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 1200508	NM_001382391.1(CSPP1):c.3469+162C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193840	NM_001382391.1(CSPP1):c.3469+163A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672886	NM_001382391.1(CSPP1):c.3470-187C>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515027	NM_001382391.1(CSPP1):c.3470-20G>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 383716	NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser)	ARFGEF1, CSPP1 (P1160S +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3361816	NM_001382391.1(CSPP1):c.3526G>A (p.Gly1176Arg)	ARFGEF1, CSPP1 (G1084R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1045899	NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala)	ARFGEF1, CSPP1 (S1150A +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2499428	NM_001382391.1(CSPP1):c.3586C>T (p.Arg1196Cys)	ARFGEF1, CSPP1 (R1104C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 430519	NM_001382391.1(CSPP1):c.3647T>A (p.Phe1216Tyr)	ARFGEF1, CSPP1 (F1211Y +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187788	NM_001382391.1(CSPP1):c.*166G>A	ARFGEF1, CSPP1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2574377	NM_006421.5(ARFGEF1):c.5549G>T (p.Ter1850Leu)	ARFGEF1	Single nucleotide variant (stop lost +2 more)	not provided	GUncertain significance
Select item 3370005	NM_006421.5(ARFGEF1):c.5440G>A (p.Asp1814Asn)	ARFGEF1 (D1339N +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2412829	NM_006421.5(ARFGEF1):c.5340dup (p.Leu1781fs)	ARFGEF1 (L1781fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3364535	NM_006421.5(ARFGEF1):c.5331G>A (p.Trp1777Ter)	ARFGEF1 (W1302* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3253012	NM_006421.5(ARFGEF1):c.5320C>G (p.Arg1774Gly)	ARFGEF1 (R1299G +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 996313	NM_006421.5(ARFGEF1):c.5320C>T (p.Arg1774Ter)	ARFGEF1 (R1774*)	Single nucleotide variant (nonsense)	Global developmental delay +6 more	GPathogenic
Select item 3367877	NM_006421.5(ARFGEF1):c.5241G>C (p.Trp1747Cys)	ARFGEF1 (W1272C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372179	NM_006421.5(ARFGEF1):c.5210T>A (p.Met1737Lys)	ARFGEF1 (M1262K +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364577	NM_006421.5(ARFGEF1):c.5167G>A (p.Glu1723Lys)	ARFGEF1 (E1248K +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364966	NM_006421.5(ARFGEF1):c.5006G>A (p.Gly1669Glu)	ARFGEF1 (G1194E +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1288361	NM_006421.5(ARFGEF1):c.4687-10del	ARFGEF1	Deletion (intron variant)	not provided	GBenign
Select item 3367597	NM_006421.5(ARFGEF1):c.4645A>C (p.Thr1549Pro)	ARFGEF1 (T1074P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371652	NM_006421.5(ARFGEF1):c.4328A>C (p.Gln1443Pro)	ARFGEF1 (Q1243P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370095	NM_006421.5(ARFGEF1):c.4266C>G (p.His1422Gln)	ARFGEF1 (H1222Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723033	NM_006421.5(ARFGEF1):c.4244_4245del (p.Tyr1415fs)	ARFGEF1 (Y1415fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3343767	NM_006421.5(ARFGEF1):c.4240A>C (p.Thr1414Pro)	ARFGEF1 (T1214P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703402	NM_006421.5(ARFGEF1):c.4207A>G (p.Arg1403Gly)	ARFGEF1 (R1403G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996321	NM_006421.5(ARFGEF1):c.4033C>T (p.Arg1345Ter)	ARFGEF1 (R1345*)	Single nucleotide variant (nonsense)	Intellectual disability +4 more	GPathogenic
Select item 3370872	NM_006421.5(ARFGEF1):c.3752C>G (p.Thr1251Arg)	ARFGEF1 (T1051R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369442	NM_006421.5(ARFGEF1):c.3719T>G (p.Phe1240Cys)	ARFGEF1 (F1040C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804274	NM_006421.5(ARFGEF1):c.3421+1G>T	ARFGEF1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3366134	NM_006421.5(ARFGEF1):c.3374T>G (p.Val1125Gly)	ARFGEF1 (V1123G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371847	NM_006421.5(ARFGEF1):c.3362T>G (p.Val1121Gly)	ARFGEF1 (V1119G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504534	NM_006421.5(ARFGEF1):c.3151A>T (p.Ile1051Phe)	ARFGEF1 (I1049F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370661	NM_006421.5(ARFGEF1):c.3124A>G (p.Asn1042Asp)	ARFGEF1 (N1040D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375634	NM_006421.5(ARFGEF1):c.3107A>G (p.Asp1036Gly)	ARFGEF1 (D1034G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662301	NM_006421.5(ARFGEF1):c.2743A>G (p.Met915Val)	ARFGEF1 (M440V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364309	NM_006421.5(ARFGEF1):c.2719AGA[1] (p.Arg908del)	ARFGEF1 (R433del +3 more)	Microsatellite (non-coding transcript variant)	not provided	GUncertain significance
Select item 3343435	NM_006421.5(ARFGEF1):c.2581G>T (p.Asp861Tyr)	ARFGEF1 (D386Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571908	NM_006421.5(ARFGEF1):c.2482G>A (p.Ala828Thr)	ARFGEF1 (A353T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370933	NM_006421.5(ARFGEF1):c.2428G>A (p.Glu810Lys)	ARFGEF1 (E335K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368141	NM_006421.5(ARFGEF1):c.2345G>A (p.Arg782His)	ARFGEF1 (R307H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375639	NM_006421.5(ARFGEF1):c.2316_2317del (p.Ser773fs)	ARFGEF1 (S298fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3372606	NM_006421.5(ARFGEF1):c.2225G>A (p.Arg742Lys)	ARFGEF1 (R267K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363429	NM_006421.5(ARFGEF1):c.2106A>G (p.Ile702Met)	ARFGEF1 (I227M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371989	NM_006421.5(ARFGEF1):c.1924C>T (p.Gln642Ter)	ARFGEF1 (Q167* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2663110	NM_006421.5(ARFGEF1):c.1922-2A>G	ARFGEF1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2658640	NM_006421.5(ARFGEF1):c.1865G>A (p.Cys622Tyr)	ARFGEF1 (C147Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1699685	NM_006421.5(ARFGEF1):c.1807G>C (p.Val603Leu)	ARFGEF1 (V603L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371281	NM_006421.5(ARFGEF1):c.1633A>G (p.Lys545Glu)	ARFGEF1 (K345E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2446600	NM_006421.5(ARFGEF1):c.1387A>G (p.Ile463Val)	ARFGEF1 (I263V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3365330	NM_006421.5(ARFGEF1):c.1271T>G (p.Phe424Cys)	ARFGEF1 (F224C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3369992	NM_006421.5(ARFGEF1):c.1232C>T (p.Pro411Leu)	ARFGEF1 (P211L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2294614	NM_006421.5(ARFGEF1):c.1148C>A (p.Ala383Glu)	ARFGEF1 (A383E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3369875	NM_006421.5(ARFGEF1):c.1085A>G (p.Glu362Gly)	ARFGEF1 (E162G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3369667	NM_006421.5(ARFGEF1):c.923C>A (p.Ser308Tyr)	ARFGEF1 (S108Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1698098	NM_006421.5(ARFGEF1):c.901_902delinsAA (p.Ala301Lys)	ARFGEF1 (A301K)	Indel (missense variant)	not provided	GUncertain significance
Select item 1699755	NM_006421.5(ARFGEF1):c.640-2A>C	ARFGEF1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3252469	NM_006421.5(ARFGEF1):c.599A>C (p.Gln200Pro)	ARFGEF1 (Q200P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3370921	NM_006421.5(ARFGEF1):c.491_492del (p.Ile164fs)	ARFGEF1 (I164fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic

<< First< Prev

Page of 2