57094[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 249

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
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 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 363596	NM_020361.5(CPA6):c.*328A>G	ARFGEF1-DT, CPA6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 363597	NM_020361.5(CPA6):c.*260A>C	ARFGEF1-DT, CPA6	Single nucleotide variant (3 prime UTR variant)	Familial temporal lobe epilepsy 5	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
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 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 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 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 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 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 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 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 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 193915	NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe)	ARFGEF1-DT, CPA6 (L413F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 161731	NM_020361.5(CPA6):c.1217G>C (p.Gly406Ala)	ARFGEF1-DT, CPA6 (G406A)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	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 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 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 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 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 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 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 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 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 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 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 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 977437	NM_020361.5(CPA6):c.1121C>T (p.Thr374Met)	ARFGEF1-DT, CPA6 (T374M)	Single nucleotide variant (missense variant)	Seizure	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 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 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 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 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 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 958772	NM_020361.5(CPA6):c.1090G>A (p.Val364Ile)	ARFGEF1-DT, CPA6 (V364I)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11 +2 more	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 284180	NM_020361.5(CPA6):c.975A>G (p.Ala325=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely 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 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 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 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 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 128848	NM_020361.5(CPA6):c.928C>T (p.Leu310Phe)	ARFGEF1-DT, CPA6 (L310F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774243	NM_020361.5(CPA6):c.920C>T (p.Ala307Val)	ARFGEF1-DT, CPA6 (A307V)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 3062342	NC_000008.11:g.(?_67476661)_(67485906_?)del	ARFGEF1-DT, CPA6	Deletion	Epilepsy syndrome	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 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 30791	NM_020361.5(CPA6):c.809C>T (p.Ala270Val)	ARFGEF1-DT, CPA6 (A270V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5 +2 more	GConflicting classifications of pathogenicity
Select item 1172805	Multiple alleles	ARFGEF1-DT, CPA6 (G267R +1 more)	Single nucleotide variant (missense variant)	Cerebral palsy	GLikely pathogenic
Select item 281269	NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)	ARFGEF1-DT, CPA6 (G267R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 1006154	NM_020361.5(CPA6):c.747+4A>G	ARFGEF1-DT, CPA6	Single nucleotide variant (intron variant)	Febrile seizures, familial, 11	GUncertain significance

<< First< Prev

Page of 3