13536[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 148540	GRCh38/hg38 15q21.1-21.2(chr15:49064333-50176783)x1	ATP8B4, COPS2 +18 more	Copy number loss	See cases	GUncertain significance
Select item 145038	GRCh38/hg38 15q21.2(chr15:49751614-50137152)x1	ATP8B4, LOC102724587 +4 more	Copy number loss	See cases	GUncertain significance
Select item 2299958	NM_024837.4(ATP8B4):c.3565A>G (p.Thr1189Ala)	ATP8B4 (T1189A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132046	NM_024837.4(ATP8B4):c.3562A>G (p.Lys1188Glu)	ATP8B4 (K1188E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384058	NM_024837.4(ATP8B4):c.3523A>G (p.Lys1175Glu)	ATP8B4 (K1175E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375443	NM_024837.4(ATP8B4):c.3521G>A (p.Cys1174Tyr)	ATP8B4 (C1174Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330143	NM_024837.4(ATP8B4):c.3512A>C (p.Glu1171Ala)	ATP8B4 (E1171A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782590	NM_024837.4(ATP8B4):c.3495T>A (p.Asn1165Lys)	ATP8B4 (N1165K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2614511	NM_024837.4(ATP8B4):c.3448G>A (p.Ala1150Thr)	ATP8B4 (A1150T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132045	NM_024837.4(ATP8B4):c.3376A>G (p.Arg1126Gly)	ATP8B4 (R1126G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350394	NM_024837.4(ATP8B4):c.3362G>A (p.Arg1121His)	ATP8B4 (R1121H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593985	NM_024837.4(ATP8B4):c.3347G>A (p.Arg1116Gln)	ATP8B4 (R1116Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132043	NM_024837.4(ATP8B4):c.3301C>T (p.Arg1101Cys)	ATP8B4 (R1101C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330214	NM_024837.4(ATP8B4):c.3263T>C (p.Leu1088Ser)	ATP8B4 (L1088S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330165	NM_024837.4(ATP8B4):c.3239T>C (p.Met1080Thr)	ATP8B4 (M1080T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308488	NM_024837.4(ATP8B4):c.3224C>T (p.Thr1075Ile)	ATP8B4 (T1075I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267894	NM_024837.4(ATP8B4):c.3223A>G (p.Thr1075Ala)	ATP8B4 (T1075A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132042	NM_024837.4(ATP8B4):c.3185T>C (p.Leu1062Pro)	ATP8B4 (L1062P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132041	NM_024837.4(ATP8B4):c.3163G>A (p.Val1055Ile)	ATP8B4 (V1055I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132040	NM_024837.4(ATP8B4):c.3073A>C (p.Ile1025Leu)	ATP8B4 (I1025L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374054	NM_024837.4(ATP8B4):c.3067G>A (p.Val1023Ile)	ATP8B4 (V1023I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255872	NM_024837.4(ATP8B4):c.3049T>C (p.Trp1017Arg)	ATP8B4 (W1017R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598390	NM_024837.4(ATP8B4):c.3014T>C (p.Val1005Ala)	ATP8B4 (V1005A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329638	NM_024837.4(ATP8B4):c.2963T>C (p.Ile988Thr)	ATP8B4 (I988T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330152	NM_024837.4(ATP8B4):c.2921A>G (p.Tyr974Cys)	ATP8B4 (Y974C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213355	NM_024837.4(ATP8B4):c.2858G>A (p.Arg953His)	ATP8B4 (R953H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330147	NM_024837.4(ATP8B4):c.2857C>T (p.Arg953Cys)	ATP8B4 (R953C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324771	NM_024837.4(ATP8B4):c.2857C>A (p.Arg953Ser)	ATP8B4 (R953S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531828	NM_024837.4(ATP8B4):c.2825A>C (p.Lys942Thr)	ATP8B4 (K942T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132038	NM_024837.4(ATP8B4):c.2810G>T (p.Cys937Phe)	ATP8B4 (C937F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132037	NM_024837.4(ATP8B4):c.2795A>G (p.Gln932Arg)	ATP8B4 (Q932R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132036	NM_024837.4(ATP8B4):c.2726T>C (p.Leu909Pro)	ATP8B4, LOC102724587 (L909P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312794	NM_024837.4(ATP8B4):c.2719A>G (p.Ile907Val)	ATP8B4, LOC102724587 (I907V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330155	NM_024837.4(ATP8B4):c.2701G>T (p.Val901Phe)	ATP8B4, LOC102724587 (V901F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308824	NM_024837.4(ATP8B4):c.2656G>C (p.Val886Leu)	ATP8B4 (V886L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219457	NM_024837.4(ATP8B4):c.2624A>G (p.Tyr875Cys)	ATP8B4 (Y875C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405061	NM_024837.4(ATP8B4):c.2438T>C (p.Ile813Thr)	ATP8B4 (I813T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132035	NM_024837.4(ATP8B4):c.2368G>A (p.Val790Ile)	ATP8B4 (V790I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396341	NM_024837.4(ATP8B4):c.2227G>C (p.Asp743His)	ATP8B4 (D743H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132034	NM_024837.4(ATP8B4):c.2083A>C (p.Met695Leu)	ATP8B4 (M695L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222517	NM_024837.4(ATP8B4):c.2048A>G (p.Asn683Ser)	ATP8B4 (N683S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470815	NM_024837.4(ATP8B4):c.1985G>T (p.Ser662Ile)	ATP8B4 (S662I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309241	NM_024837.4(ATP8B4):c.1933G>A (p.Ala645Thr)	ATP8B4 (A645T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271180	NM_024837.4(ATP8B4):c.1781G>A (p.Arg594Gln)	ATP8B4 (R594Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280613	NM_024837.4(ATP8B4):c.1775G>A (p.Gly592Asp)	ATP8B4 (G592D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132033	NM_024837.4(ATP8B4):c.1742C>T (p.Thr581Met)	ATP8B4 (T581M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330138	NM_024837.4(ATP8B4):c.1741A>G (p.Thr581Ala)	ATP8B4 (T581A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403293	NM_024837.4(ATP8B4):c.1699T>C (p.Phe567Leu)	ATP8B4 (F567L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645323	NM_024837.4(ATP8B4):c.1689T>C (p.Asp563=)	ATP8B4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3132031	NM_024837.4(ATP8B4):c.1454G>A (p.Gly485Glu)	ATP8B4 (G485E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603484	NM_024837.4(ATP8B4):c.1429G>A (p.Val477Ile)	ATP8B4 (V477I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732385	NM_024837.4(ATP8B4):c.1326G>A (p.Ala442=)	ATP8B4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3132030	NM_024837.4(ATP8B4):c.1238T>A (p.Ile413Asn)	ATP8B4 (I413N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454389	NM_024837.4(ATP8B4):c.1174G>A (p.Asp392Asn)	ATP8B4 (D392N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375522	NM_024837.4(ATP8B4):c.1157T>C (p.Ile386Thr)	ATP8B4 (I386T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487068	NM_024837.4(ATP8B4):c.1112C>A (p.Pro371His)	ATP8B4 (P371H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2465375	NM_024837.4(ATP8B4):c.1112C>G (p.Pro371Arg)	ATP8B4 (P371R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132029	NM_024837.4(ATP8B4):c.1081C>T (p.Arg361Trp)	ATP8B4 (R361W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305288	NM_024837.4(ATP8B4):c.1051C>G (p.Leu351Val)	ATP8B4 (L351V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132053	NM_024837.4(ATP8B4):c.955T>C (p.Ser319Pro)	ATP8B4 (S319P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549123	NM_024837.4(ATP8B4):c.943G>A (p.Gly315Arg)	ATP8B4 (G315R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539314	NM_024837.4(ATP8B4):c.817A>G (p.Met273Val)	ATP8B4 (M273V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374499	NM_024837.4(ATP8B4):c.768G>A (p.Met256Ile)	ATP8B4 (M256I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132052	NM_024837.4(ATP8B4):c.767T>A (p.Met256Lys)	ATP8B4 (M256K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132051	NM_024837.4(ATP8B4):c.749G>A (p.Gly250Asp)	ATP8B4 (G250D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132050	NM_024837.4(ATP8B4):c.703A>C (p.Ile235Leu)	ATP8B4 (I235L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348406	NM_024837.4(ATP8B4):c.657C>G (p.Asp219Glu)	ATP8B4 (D219E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329783	NM_024837.4(ATP8B4):c.607G>A (p.Val203Met)	ATP8B4 (V203M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132049	NM_024837.4(ATP8B4):c.512C>T (p.Thr171Met)	ATP8B4 (T171M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132048	NM_024837.4(ATP8B4):c.509A>T (p.Glu170Val)	ATP8B4 (E170V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384228	NM_024837.4(ATP8B4):c.479G>A (p.Cys160Tyr)	ATP8B4 (C160Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132047	NM_024837.4(ATP8B4):c.422A>C (p.Asn141Thr)	ATP8B4 (N141T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645324	NM_024837.4(ATP8B4):c.348G>A (p.Val116=)	ATP8B4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2522821	NM_024837.4(ATP8B4):c.347T>A (p.Val116Glu)	ATP8B4 (V116E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132044	NM_024837.4(ATP8B4):c.331A>C (p.Asn111His)	ATP8B4 (N111H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132032	NM_024837.4(ATP8B4):c.154T>G (p.Phe52Val)	ATP8B4 (F52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326683	NM_024837.4(ATP8B4):c.104C>T (p.Thr35Ile)	ATP8B4 (T35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559904	NM_024837.4(ATP8B4):c.99C>G (p.Ile33Met)	ATP8B4 (I33M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458744	NM_024837.4(ATP8B4):c.95G>A (p.Arg32His)	ATP8B4 (R32H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333221	NM_024837.4(ATP8B4):c.86C>T (p.Ala29Val)	ATP8B4 (A29V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330160	NM_024837.4(ATP8B4):c.41T>G (p.Ile14Arg)	ATP8B4 (I14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063396	GRCh37/hg19 15q21.1-21.2(chr15:49143050-50410530)x1	ATP8B4, COPS2 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2578751	GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1	AP4E1, ATP8B4 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1526455	GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)	AP4E1, ATP8B4 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526451	GRCh37/hg19 15q21.1-21.2(chr15:47574384-50369056)	EID1, FAM227B +15 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 815710	GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1	ATP8B4, CEP152 +20 more	Copy number loss	not provided	GPathogenic
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 687424	GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1	AP4E1, ARPP19 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443456	GRCh37/hg19 15q21.2(chr15:49656531-50165554)x3	ATP8B4, DTWD1 +2 more	Copy number gain	See cases	GLikely benign

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