Related gene-specific medical variations for Gene (Select 57094) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377700	NM_020361.5(CPA6):c.1223T>C (p.Leu408Ser)	ARFGEF1-DT, CPA6 (L408S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 3269116	NM_020361.5(CPA6):c.1155G>C (p.Trp385Cys)	ARFGEF1-DT, CPA6 (W385C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234978	NM_020361.5(CPA6):c.1205C>A (p.Thr402Asn)	ARFGEF1-DT, CPA6 (T402N)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 3076545	NM_020361.5(CPA6):c.669G>A (p.Met223Ile)	ARFGEF1-DT, CPA6 (M223I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076544	NM_020361.5(CPA6):c.668T>G (p.Met223Arg)	ARFGEF1-DT, CPA6 (M223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076542	NM_020361.5(CPA6):c.1101A>T (p.Arg367Ser)	ARFGEF1-DT, CPA6 (R367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076541	NM_020361.5(CPA6):c.1088G>C (p.Gly363Ala)	ARFGEF1-DT, CPA6 (G363A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 disorder	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 2536404	NM_020361.5(CPA6):c.1211A>G (p.Tyr404Cys)	ARFGEF1-DT, CPA6 (Y404C)	Single nucleotide variant (missense variant)	not specified	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 2395897	NM_020361.5(CPA6):c.1032T>G (p.Phe344Leu)	ARFGEF1-DT, CPA6 (F344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267149	NM_020361.5(CPA6):c.831G>C (p.Lys277Asn)	ARFGEF1-DT, CPA6 (K277N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 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 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 +1 more	GUncertain significance
Select item 1334840	NM_020361.5(CPA6):c.945G>T (p.Lys315Asn)	ARFGEF1-DT, CPA6 (K315N)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 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 1138982	NM_020361.5(CPA6):c.748-1G>A	ARFGEF1-DT, CPA6	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 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 1051585	NM_020361.5(CPA6):c.688C>G (p.Leu230Val)	ARFGEF1-DT, CPA6 (L230V)	Single nucleotide variant (missense variant)	not specified +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)	not specified +1 more	GUncertain significance
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 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 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 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 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 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 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 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 909221	NM_020361.5(CPA6):c.1246C>T (p.Pro416Ser)	ARFGEF1-DT, CPA6 (P416S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 909220	NM_020361.5(CPA6):c.*132C>T	ARFGEF1-DT, CPA6	Single nucleotide variant (3 prime UTR variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 908371	NM_020361.5(CPA6):c.*286A>G	ARFGEF1-DT, CPA6	Single nucleotide variant (3 prime UTR variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 862883	NM_020361.5(CPA6):c.1117A>G (p.Thr373Ala)	ARFGEF1-DT, CPA6 (T373A)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 795652	NM_020361.5(CPA6):c.1042-4A>C	ARFGEF1-DT, CPA6	Single nucleotide variant (intron variant)	Febrile seizures, familial, 11	GLikely benign
Select item 794338	NM_020361.5(CPA6):c.1127-7C>T	ARFGEF1-DT, CPA6	Single nucleotide variant (intron variant)	Febrile seizures, familial, 11	GLikely benign
Select item 774243	NM_020361.5(CPA6):c.920C>T (p.Ala307Val)	ARFGEF1-DT, CPA6 (A307V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5 +1 more	GConflicting classifications of pathogenicity
Select item 767019	NM_020361.5(CPA6):c.813T>C (p.Asn271=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GBenign
Select item 765380	NM_020361.5(CPA6):c.810C>T (p.Ala270=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760189	NM_020361.5(CPA6):c.1308T>C (p.Cys436=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 744130	NM_020361.5(CPA6):c.1272T>C (p.Ala424=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 736178	NM_020361.5(CPA6):c.1086C>T (p.Tyr362=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 715055	NM_020361.5(CPA6):c.957T>G (p.Ala319=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 662964	NM_020361.5(CPA6):c.1192G>A (p.Glu398Lys)	ARFGEF1-DT, CPA6 (E398K)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 657933	NM_020361.5(CPA6):c.725G>T (p.Gly242Val)	ARFGEF1-DT, CPA6 (G242V)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11 +1 more	GUncertain significance
Select item 648185	NM_020361.5(CPA6):c.905A>G (p.Glu302Gly)	ARFGEF1-DT, CPA6 (E302G)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 640893	NM_020361.5(CPA6):c.1019C>T (p.Thr340Ile)	ARFGEF1-DT, CPA6 (T340I)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 597708	NM_020361.5(CPA6):c.903G>A (p.Pro301=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11 +1 more	GConflicting classifications of pathogenicity
Select item 563428	GRCh37/hg19 8q13.2(chr8:68399660-68474594)x1	CPA6	Copy number loss	not provided	GUncertain significance
Select item 539979	NM_020361.5(CPA6):c.759G>A (p.Trp253Ter)	ARFGEF1-DT, CPA6 (W253*)	Single nucleotide variant (nonsense)	Familial temporal lobe epilepsy 5 +1 more	GConflicting classifications of pathogenicity
Select item 539976	NM_020361.5(CPA6):c.1199G>A (p.Arg400His)	ARFGEF1-DT, CPA6 (R400H)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 539975	NM_020361.5(CPA6):c.757T>C (p.Trp253Arg)	ARFGEF1-DT, CPA6 (W253R)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 501457	NM_020361.5(CPA6):c.853A>G (p.Met285Val)	ARFGEF1-DT, CPA6 (M285V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 472765	NM_020361.5(CPA6):c.916G>A (p.Val306Ile)	ARFGEF1-DT, CPA6 (V306I)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11 +1 more	GConflicting classifications of pathogenicity
Select item 472764	NM_020361.5(CPA6):c.861T>C (p.Pro287=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 11	GLikely benign
Select item 472763	NM_020361.5(CPA6):c.757T>G (p.Trp253Gly)	ARFGEF1-DT, CPA6 (W253G)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11 +1 more	GUncertain significance
Select item 472762	NM_020361.5(CPA6):c.637-3T>C	ARFGEF1-DT, CPA6	Single nucleotide variant (intron variant)	Febrile seizures, familial, 11 +1 more	GBenign
Select item 472761	NM_020361.5(CPA6):c.1271C>T (p.Ala424Val)	ARFGEF1-DT, CPA6 (A424V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5 +2 more	GUncertain significance
Select item 472759	NM_020361.5(CPA6):c.1087G>A (p.Gly363Arg)	ARFGEF1-DT, CPA6 (G363R)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11	GUncertain significance
Select item 444757	NM_020361.5(CPA6):c.902C>T (p.Pro301Leu)	ARFGEF1-DT, CPA6 (P301L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 444756	NM_020361.5(CPA6):c.1026C>G (p.Pro342=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437415	NM_020361.5(CPA6):c.994T>C (p.Tyr332His)	ARFGEF1-DT, CPA6 (Y332H)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 434821	NM_020361.5(CPA6):c.931C>T (p.Arg311Ter)	ARFGEF1-DT, CPA6 (R311*)	Single nucleotide variant (nonsense)	Febrile seizures, familial, 11 +1 more	GConflicting classifications of pathogenicity
Select item 424519	NM_020361.5(CPA6):c.733T>G (p.Phe245Val)	ARFGEF1-DT, CPA6 (F245V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424361	NM_020361.5(CPA6):c.1028A>G (p.Asn343Ser)	ARFGEF1-DT, CPA6 (N343S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423645	NM_020361.5(CPA6):c.707C>T (p.Pro236Leu)	ARFGEF1-DT, CPA6 (P236L)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11 +1 more	GUncertain significance
Select item 363608	NM_020361.5(CPA6):c.715A>G (p.Asn239Asp)	ARFGEF1-DT, CPA6 (N239D)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 363607	NM_020361.5(CPA6):c.791G>A (p.Arg264His)	ARFGEF1-DT, CPA6 (R264H)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11 +1 more	GUncertain significance
Select item 363606	NM_020361.5(CPA6):c.797G>T (p.Arg266Leu)	ARFGEF1-DT, CPA6 (R266L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5 +2 more	GUncertain significance
Select item 363605	NM_020361.5(CPA6):c.932G>A (p.Arg311Gln)	ARFGEF1-DT, CPA6 (R311Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 363604	NM_020361.5(CPA6):c.1021A>G (p.Ile341Val)	ARFGEF1-DT, CPA6 (I341V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5 +1 more	GUncertain significance
Select item 363603	NM_020361.5(CPA6):c.1077G>A (p.Gln359=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 363602	NM_020361.5(CPA6):c.1126+13C>T	ARFGEF1-DT, CPA6	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 5	GUncertain significance
Select item 363601	NM_020361.5(CPA6):c.1127-25_1127-24dup	ARFGEF1-DT, CPA6	Duplication (intron variant)	not provided +1 more	GUncertain significance
Select item 363600	NM_020361.5(CPA6):c.1127-25dup	ARFGEF1-DT, CPA6	Duplication (intron variant)	not provided +1 more	GUncertain significance
Select item 363599	NM_020361.5(CPA6):c.1288A>G (p.Met430Val)	ARFGEF1-DT, CPA6 (M430V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 363598	NM_020361.5(CPA6):c.*242T>C	ARFGEF1-DT, CPA6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign

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