ClinVar for Gene (Select 57094) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065258	NM_020361.5(CPA6):c.871A>G (p.Thr291Ala)	ARFGEF1-DT, CPA6 (T291A)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 3065225	NM_020361.5(CPA6):c.1207G>T (p.Gly403Ter)	ARFGEF1-DT, CPA6 (G403*)	Single nucleotide variant (nonsense)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 3063035	GRCh37/hg19 8q13.1-13.2(chr8:67848148-69198213)x1	ARFGEF1, COPS5 +5 more	Copy number loss	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3062342	NC_000008.11:g.(?_67476661)_(67485906_?)del	ARFGEF1-DT, CPA6	Deletion	Epilepsy syndrome	GUncertain significance
Select item 3032183	NM_020361.5(CPA6):c.1037G>T (p.Cys346Phe)	ARFGEF1-DT, CPA6 (C346F)	Single nucleotide variant (missense variant)	CPA6-related condition	GUncertain significance
Select item 3027230	NM_020361.5(CPA6):c.126G>A (p.Val42=)	CPA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691559	NM_020361.5(CPA6):c.192G>C (p.Lys64Asn)	CPA6 (K64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682615	NM_020361.5(CPA6):c.1072C>A (p.Leu358Ile)	ARFGEF1-DT, CPA6 (L358I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664165	NM_020361.5(CPA6):c.1007A>G (p.Tyr336Cys)	ARFGEF1-DT, CPA6 (Y336C)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 2553662	NM_020361.5(CPA6):c.208C>A (p.Pro70Thr)	CPA6 (P70T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536404	NM_020361.5(CPA6):c.1211A>G (p.Tyr404Cys)	ARFGEF1-DT, CPA6 (Y404C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519184	NM_020361.5(CPA6):c.395C>G (p.Ser132Cys)	CPA6 (S132C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493904	NM_020361.5(CPA6):c.356G>A (p.Gly119Glu)	CPA6 (G119E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440521	NM_020361.5(CPA6):c.939C>G (p.His313Gln)	ARFGEF1-DT, CPA6 (H313Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440520	NM_020361.5(CPA6):c.1090G>T (p.Val364Leu)	ARFGEF1-DT, CPA6 (V364L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426888	NC_000008.10:g.(?_67976634)_(68658364_?)del	ARFGEF1, CPA6 +1 more	Deletion	Joubert syndrome 21	GPathogenic
Select item 2395897	NM_020361.5(CPA6):c.1032T>G (p.Phe344Leu)	CPA6, ARFGEF1-DT (F344L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320815	NM_020361.5(CPA6):c.224A>G (p.Tyr75Cys)	CPA6 (Y75C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275157	NM_020361.5(CPA6):c.247G>C (p.Asp83His)	CPA6 (D83H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267149	NM_020361.5(CPA6):c.831G>C (p.Lys277Asn)	ARFGEF1-DT, CPA6 (K277N)	Single nucleotide variant (missense variant)	CPA6-related condition +1 more	GUncertain significance
Select item 2256057	NM_020361.5(CPA6):c.206A>G (p.Gln69Arg)	CPA6 (Q69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233153	NM_020361.5(CPA6):c.563C>T (p.Ala188Val)	CPA6 (A188V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808390	GRCh37/hg19 8q13.1-13.2(chr8:67642641-68406704)x1	ARFGEF1, C8orf44-SGK3 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1807954	GRCh37/hg19 8q13.1-13.2(chr8:67261729-68676568)x1	ADHFE1, ARFGEF1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1701779	NM_020361.5(CPA6):c.20G>T (p.Arg7Leu)	CPA6 (R7L)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11 +1 more	GUncertain significance
Select item 1679765	NM_020361.5(CPA6):c.192+29464G>T	CPA6	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 5 +1 more	GUncertain significance
Select item 1679605	NM_020361.5(CPA6):c.117-25562dup	CPA6	Duplication (intron variant)	Familial temporal lobe epilepsy 5 +1 more	GUncertain significance
Select item 1653840	NM_020361.5(CPA6):c.102C>T (p.Asn34=)	CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1613619	NM_020361.5(CPA6):c.255T>C (p.His85=)	CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1610194	NM_020361.5(CPA6):c.858C>T (p.His286=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1527436	GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)	ADHFE1, ARFGEF1 +23 more	Copy number loss	not specified	GPathogenic
Select item 1441460	NM_020361.5(CPA6):c.545G>A (p.Arg182Gln)	CPA6 (R182Q)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1425332	NM_020361.5(CPA6):c.650A>G (p.Tyr217Cys)	ARFGEF1-DT, CPA6 (Y217C)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1377539	NM_020361.5(CPA6):c.1111G>A (p.Ala371Thr)	ARFGEF1-DT, CPA6 (A371T)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1340821	GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1	ADHFE1, ARFGEF1 +23 more	Copy number loss	not provided	GPathogenic
Select item 1334840	NM_020361.5(CPA6):c.945G>T (p.Lys315Asn)	ARFGEF1-DT, CPA6 (K315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334016	NM_020361.5(CPA6):c.1294C>A (p.Leu432Met)	ARFGEF1-DT, CPA6 (L432M)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 1325821	NM_020361.5(CPA6):c.107G>A (p.Arg36His)	CPA6 (R36H)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GLikely pathogenic
Select item 1285501	NM_020361.5(CPA6):c.619C>T (p.Gln207Ter)	CPA6 (Q207*)	Single nucleotide variant (nonsense)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 1176559	NM_020361.5(CPA6):c.1240A>G (p.Ile414Val)	ARFGEF1-DT, CPA6 (I414V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1172805	Multiple alleles	ARFGEF1-DT, CPA6 (G267R +1 more)	Single nucleotide variant (missense variant)	Cerebral palsy	GLikely pathogenic
Select item 1167932	NM_020361.5(CPA6):c.690A>G (p.Leu230=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GBenign
Select item 1160439	NM_020361.5(CPA6):c.1191C>T (p.Phe397=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1160283	NM_020361.5(CPA6):c.117-9_117-5del	CPA6	Deletion (intron variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1155719	NM_020361.5(CPA6):c.193-4A>G	CPA6	Single nucleotide variant (intron variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1152634	NM_020361.5(CPA6):c.1182A>G (p.Ala394=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1149458	NM_020361.5(CPA6):c.317+8T>C	CPA6	Single nucleotide variant (intron variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1138982	NM_020361.5(CPA6):c.748-1G>A	ARFGEF1-DT, CPA6	Single nucleotide variant (splice acceptor variant)	Febrile seizures, familial, 11 +1 more	GConflicting classifications of pathogenicity
Select item 1135719	NM_020361.5(CPA6):c.21C>T (p.Arg7=)	CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1133431	NM_020361.5(CPA6):c.529T>C (p.Leu177=)	CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1119248	NM_020361.5(CPA6):c.579T>C (p.Cys193=)	CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1105122	NM_020361.5(CPA6):c.597A>G (p.Glu199=)	CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1097332	NM_020361.5(CPA6):c.426A>G (p.Leu142=)	CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1093183	NM_020361.5(CPA6):c.720C>G (p.Val240=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1086558	NM_020361.5(CPA6):c.621G>A (p.Gln207=)	CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1083459	NM_020361.5(CPA6):c.1197A>G (p.Leu399=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1081645	NM_020361.5(CPA6):c.24G>A (p.Arg8=)	CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1081230	NM_020361.5(CPA6):c.1122G>A (p.Thr374=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1056242	NM_020361.5(CPA6):c.676dup (p.Met226fs)	ARFGEF1-DT, CPA6 (M226fs)	Duplication (frameshift variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1053956	NM_020361.5(CPA6):c.170A>G (p.Lys57Arg)	CPA6 (K57R)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1051585	NM_020361.5(CPA6):c.688C>G (p.Leu230Val)	ARFGEF1-DT, CPA6 (L230V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1047776	NM_020361.5(CPA6):c.786G>T (p.Arg262Ser)	ARFGEF1-DT, CPA6 (R262S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1046558	NM_020361.5(CPA6):c.624G>T (p.Trp208Cys)	CPA6 (W208C)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1032077	NM_020361.5(CPA6):c.266del (p.Asn89fs)	CPA6 (N89fs)	Deletion (frameshift variant)	Febrile seizures, familial, 11	GLikely benign
Select item 1030703	NM_020361.5(CPA6):c.1096T>C (p.Tyr366His)	ARFGEF1-DT, CPA6 (Y366H)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 1023810	NM_020361.5(CPA6):c.63T>G (p.Phe21Leu)	CPA6 (F21L)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1018912	NM_020361.5(CPA6):c.80C>T (p.Pro27Leu)	CPA6 (P27L)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1014419	NM_020361.5(CPA6):c.748-3T>C	ARFGEF1-DT, CPA6	Single nucleotide variant (intron variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1011584	NM_020361.5(CPA6):c.535-1G>A	CPA6	Single nucleotide variant (splice acceptor variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1011400	NM_020361.5(CPA6):c.1039G>C (p.Val347Leu)	ARFGEF1-DT, CPA6 (V347L)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1007855	NM_020361.5(CPA6):c.1027A>G (p.Asn343Asp)	ARFGEF1-DT, CPA6 (N343D)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1006154	NM_020361.5(CPA6):c.747+4A>G	ARFGEF1-DT, CPA6	Single nucleotide variant (intron variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1006092	NM_020361.5(CPA6):c.419A>G (p.His140Arg)	CPA6 (H140R)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 1004527	NM_020361.5(CPA6):c.1298T>G (p.Leu433Arg)	ARFGEF1-DT, CPA6 (L433R)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 998625	NM_020361.5(CPA6):c.106C>T (p.Arg36Cys)	CPA6 (R36C)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 979237	GRCh37/hg19 8q13.1-13.2(chr8:67744375-68387850)x3	PPP1R42, C8orf44-SGK3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 977437	NM_020361.5(CPA6):c.1121C>T (p.Thr374Met)	ARFGEF1-DT, CPA6 (T374M)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 975374	NM_020361.5(CPA6):c.649T>C (p.Tyr217His)	ARFGEF1-DT, CPA6 (Y217H)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 969093	NM_020361.5(CPA6):c.1072C>T (p.Leu358Phe)	ARFGEF1-DT, CPA6 (L358F)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 968816	NM_020361.5(CPA6):c.704T>C (p.Met235Thr)	ARFGEF1-DT, CPA6 (M235T)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 968474	NM_020361.5(CPA6):c.374A>G (p.Gln125Arg)	CPA6 (Q125R)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 965664	NM_020361.5(CPA6):c.382C>T (p.Arg128Ter)	CPA6 (R128*)	Single nucleotide variant (nonsense)	Febrile seizures, familial, 11 +1 more	GUncertain significance
Select item 962456	NM_020361.5(CPA6):c.535-1G>T	CPA6	Single nucleotide variant (splice acceptor variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 959664	NM_020361.5(CPA6):c.275G>A (p.Arg92Gln)	CPA6 (R92Q)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 958772	NM_020361.5(CPA6):c.1090G>A (p.Val364Ile)	ARFGEF1-DT, CPA6 (V364I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 954135	NM_020361.5(CPA6):c.234G>A (p.Glu78=)	CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 950004	NM_020361.5(CPA6):c.1118C>A (p.Thr373Lys)	ARFGEF1-DT, CPA6 (T373K)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 948201	NM_020361.5(CPA6):c.380A>G (p.Asn127Ser)	CPA6 (N127S)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 947982	NM_020361.5(CPA6):c.289T>C (p.Phe97Leu)	CPA6 (F97L)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 947563	NM_020361.5(CPA6):c.735T>C (p.Phe245=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 943243	NM_020361.5(CPA6):c.677T>A (p.Met226Lys)	ARFGEF1-DT, CPA6 (M226K)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 939608	NM_020361.5(CPA6):c.919G>A (p.Ala307Thr)	ARFGEF1-DT, CPA6 (A307T)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 936000	NM_020361.5(CPA6):c.551G>A (p.Arg184Gln)	CPA6 (R184Q)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 933269	NM_020361.5(CPA6):c.274C>T (p.Arg92Ter)	CPA6 (R92*)	Single nucleotide variant (nonsense)	Febrile seizures, familial, 11	GUncertain significance
Select item 911414	NM_020361.5(CPA6):c.466C>T (p.His156Tyr)	CPA6 (H156Y)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5 +1 more	GUncertain significance
Select item 911283	NM_020361.5(CPA6):c.-203C>T	CPA6	Single nucleotide variant (5 prime UTR variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 911282	NM_020361.5(CPA6):c.-191T>C	CPA6	Single nucleotide variant (5 prime UTR variant)	Familial temporal lobe epilepsy 5	GUncertain significance

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