348980[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 148902	GRCh38/hg38 5p12(chr5:45003649-45362262)x1	HCN1	Copy number loss	See cases	GUncertain significance
Select item 60261	GRCh38/hg38 5p12(chr5:45183939-45972894)x1	HCN1, LOC126807381 +1 more	Copy number loss	See cases	GUncertain significance
Select item 1677392	NM_021072.4(HCN1):c.*2935G>T	HCN1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 3246308	NC_000005.9:g.(?_45262003)_(45262932_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2709827	NM_021072.4(HCN1):c.2660C>T (p.Ala887Val)	HCN1 (A887V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1133375	NM_021072.4(HCN1):c.2659G>A (p.Ala887Thr)	HCN1 (A887T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3242018	NM_021072.4(HCN1):c.2654G>T (p.Arg885Leu)	HCN1 (R885L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 3369711	NM_021072.4(HCN1):c.2653C>G (p.Arg885Gly)	HCN1 (R885G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732092	NM_021072.4(HCN1):c.2641G>A (p.Ala881Thr)	HCN1 (A881T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2103870	NM_021072.4(HCN1):c.2640C>A (p.Asp880Glu)	HCN1 (D880E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2808320	NM_021072.4(HCN1):c.2636C>T (p.Pro879Leu)	HCN1 (P879L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2801973	NM_021072.4(HCN1):c.2636C>G (p.Pro879Arg)	HCN1 (P879R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1554103	NM_021072.4(HCN1):c.2635C>T (p.Pro879Ser)	HCN1 (P879S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 587861	NM_021072.4(HCN1):c.2635C>A (p.Pro879Thr)	HCN1 (P879T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2336399	NM_021072.4(HCN1):c.2634C>A (p.Asp878Glu)	HCN1 (D878E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1794077	NM_021072.4(HCN1):c.2632G>C (p.Asp878His)	HCN1 (D878H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2782263	NM_021072.4(HCN1):c.2620G>C (p.Val874Leu)	HCN1 (V874L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1055235	NM_021072.4(HCN1):c.2615C>T (p.Ser872Phe)	HCN1 (S872F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1350453	NM_021072.4(HCN1):c.2612C>T (p.Ser871Phe)	HCN1 (S871F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1424356	NM_021072.4(HCN1):c.2606G>A (p.Arg869Lys)	HCN1 (R869K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2902065	NM_021072.4(HCN1):c.2605A>G (p.Arg869Gly)	HCN1 (R869G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 700689	NM_021072.4(HCN1):c.2604A>G (p.Pro868=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1111587	NM_021072.4(HCN1):c.2598T>C (p.Ala866=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2955611	NM_021072.4(HCN1):c.2590G>A (p.Ala864Thr)	HCN1 (A864T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2058375	NM_021072.4(HCN1):c.2581C>G (p.Pro861Ala)	HCN1 (P861A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1062838	NM_021072.4(HCN1):c.2581C>A (p.Pro861Thr)	HCN1 (P861T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1908298	NM_021072.4(HCN1):c.2571del (p.Pro858fs)	HCN1 (P858fs)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1620105	NM_021072.4(HCN1):c.2568C>A (p.Val856=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2693123	NM_021072.4(HCN1):c.2566G>C (p.Val856Leu)	HCN1 (V856L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2539225	NM_021072.4(HCN1):c.2566G>A (p.Val856Ile)	HCN1 (V856I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1099803	NM_021072.4(HCN1):c.2565A>G (p.Gly855=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 839464	NM_021072.4(HCN1):c.2564G>A (p.Gly855Glu)	HCN1 (G855E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1549457	NM_021072.4(HCN1):c.2562A>C (p.Arg854=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 404095	NM_021072.4(HCN1):c.2561G>C (p.Arg854Pro)	HCN1 (R854P)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 565312	NM_021072.4(HCN1):c.2560C>A (p.Arg854=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 2900770	NM_021072.4(HCN1):c.2559C>G (p.Asn853Lys)	HCN1 (N853K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1061667	NM_021072.4(HCN1):c.2559C>A (p.Asn853Lys)	HCN1 (N853K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 809754	NM_021072.4(HCN1):c.2556G>T (p.Pro852=)	HCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916975	NM_021072.4(HCN1):c.2555C>T (p.Pro852Leu)	HCN1 (P852L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2822523	NM_021072.4(HCN1):c.2555C>G (p.Pro852Arg)	HCN1 (P852R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 833771	NM_021072.4(HCN1):c.2555C>A (p.Pro852Gln)	HCN1 (P852Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2858580	NM_021072.4(HCN1):c.2551C>G (p.Pro851Ala)	HCN1 (P851A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2121150	NM_021072.4(HCN1):c.2551C>T (p.Pro851Ser)	HCN1 (P851S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2961880	NM_021072.4(HCN1):c.2550C>T (p.Ile850=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2421782	NM_021072.4(HCN1):c.2550C>A (p.Ile850=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2041691	NM_021072.4(HCN1):c.2545G>T (p.Ala849Ser)	HCN1 (A849S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1792835	NM_021072.4(HCN1):c.2541G>A (p.Ser847=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2720175	NM_021072.4(HCN1):c.2540C>G (p.Ser847Trp)	HCN1 (S847W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2788149	NM_021072.4(HCN1):c.2538G>A (p.Ser846=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1313491	NM_021072.4(HCN1):c.2537C>G (p.Ser846Trp)	HCN1 (S846W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023396	NM_021072.4(HCN1):c.2528G>A (p.Arg843Gln)	HCN1 (R843Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1879622	NM_021072.4(HCN1):c.2528G>T (p.Arg843Leu)	HCN1 (R843L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481722	NM_021072.4(HCN1):c.2527C>G (p.Arg843Gly)	HCN1 (R843G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3368310	NM_021072.4(HCN1):c.2514_2515del (p.Val839fs)	HCN1 (V839fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1058999	NM_021072.4(HCN1):c.2515G>T (p.Val839Phe)	HCN1 (V839F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1619449	NM_021072.4(HCN1):c.2514C>G (p.Arg838=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 699326	NM_021072.4(HCN1):c.2507C>T (p.Pro836Leu)	HCN1 (P836L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2833256	NM_021072.4(HCN1):c.2499C>A (p.Ser833Arg)	HCN1 (S833R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 978525	NM_021072.4(HCN1):c.2495G>C (p.Arg832Thr)	HCN1 (R832T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 452127	NM_021072.4(HCN1):c.2495G>A (p.Arg832Lys)	HCN1 (R832K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2144103	NM_021072.4(HCN1):c.2492G>T (p.Gly831Val)	HCN1 (G831V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 660646	NM_021072.4(HCN1):c.2491G>A (p.Gly831Ser)	HCN1 (G831S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2633984	NM_021072.4(HCN1):c.2489G>A (p.Gly830Glu)	HCN1 (G830E)	Single nucleotide variant (missense variant)	HCN1-related disorder	GUncertain significance
Select item 1381558	NM_021072.4(HCN1):c.2489G>C (p.Gly830Ala)	HCN1 (G830A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1792022	NM_021072.4(HCN1):c.2488G>T (p.Gly830Trp)	HCN1 (G830W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1464619	NM_021072.4(HCN1):c.2488G>A (p.Gly830Arg)	HCN1 (G830R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1604227	NM_021072.4(HCN1):c.2487A>G (p.Ala829=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1079162	NM_021072.4(HCN1):c.2478C>T (p.Gly826=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1363217	NM_021072.4(HCN1):c.2477G>A (p.Gly826Asp)	HCN1 (G826D)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2030898	NM_021072.4(HCN1):c.2475G>A (p.Thr825=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1159310	NM_021072.4(HCN1):c.2475G>C (p.Thr825=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1089038	NM_021072.4(HCN1):c.2469C>T (p.Pro823=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 948314	NM_021072.4(HCN1):c.2462C>T (p.Ala821Val)	HCN1 (A821V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2188876	NM_021072.4(HCN1):c.2459_2460insCCT (p.Thr820_Ala821insLeu)	HCN1	Insertion (inframe_insertion)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3367768	NM_021072.4(HCN1):c.2459C>T (p.Thr820Met)	HCN1 (T820M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632451	NM_021072.4(HCN1):c.2455G>A (p.Val819Met)	HCN1 (V819M)	Single nucleotide variant (missense variant)	HCN1-related disorder +1 more	GUncertain significance
Select item 1942279	NM_021072.4(HCN1):c.2454C>T (p.Pro818=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2858424	NM_021072.4(HCN1):c.2451A>G (p.Gln817=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2709117	NM_021072.4(HCN1):c.2445_2447dup (p.Pro816_Gln817insPro)	HCN1	Duplication (inframe_insertion)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 645665	NM_021072.4(HCN1):c.2447C>G (p.Pro816Arg)	HCN1 (P816R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530579	NM_021072.4(HCN1):c.2445C>A (p.Ile815=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1150854	NM_021072.4(HCN1):c.2442C>T (p.Ser814=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2702104	NM_021072.4(HCN1):c.2439C>A (p.Ala813=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3353470	NM_021072.4(HCN1):c.2438C>G (p.Ala813Gly)	HCN1 (A813G)	Single nucleotide variant (missense variant)	HCN1-related disorder	GUncertain significance
Select item 871770	NM_021072.4(HCN1):c.2438C>T (p.Ala813Val)	HCN1 (A813V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018123	NM_021072.4(HCN1):c.2433C>T (p.Ser811=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1655402	NM_021072.4(HCN1):c.2430G>A (p.Glu810=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 167166	NM_021072.4(HCN1):c.2428G>C (p.Glu810Gln)	HCN1 (E810Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655454	NM_021072.4(HCN1):c.2427C>A (p.Gly809=)	HCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 530421	NM_021072.4(HCN1):c.2427C>T (p.Gly809=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 940229	NM_021072.4(HCN1):c.2420C>G (p.Thr807Ser)	HCN1 (T807S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1057468	NM_021072.4(HCN1):c.2419A>G (p.Thr807Ala)	HCN1 (T807A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1390961	NM_021072.4(HCN1):c.2405C>G (p.Ser802Cys)	HCN1 (S802C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance

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