ClinVar for Gene (Select 5205) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366766	NM_001374385.1(ATP8B1):c.3655G>C (p.Asp1219His)	ATP8B1, ATP8B1-AS1 (D1169H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366682	NM_001374385.1(ATP8B1):c.3087C>A (p.Asn1029Lys)	ATP8B1, ATP8B1-AS1 (N1029K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3362710	NM_001374385.1(ATP8B1):c.1594G>A (p.Ala532Thr)	ATP8B1 (A482T +1 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 1	GUncertain significance
Select item 3358740	NM_001374385.1(ATP8B1):c.2095A>C (p.Ile699Leu)	ATP8B1 (I649L +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3358689	NM_001374385.1(ATP8B1):c.1501G>A (p.Ala501Thr)	ATP8B1 (A451T +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3358660	NM_001374385.1(ATP8B1):c.3695C>G (p.Ser1232Trp)	ATP8B1, ATP8B1-AS1 (S1182W +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3358357	NM_001374385.1(ATP8B1):c.2780C>T (p.Ala927Val)	ATP8B1, ATP8B1-AS1 (A877V +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3357461	NM_001374385.1(ATP8B1):c.1093C>A (p.Gln365Lys)	ATP8B1 (Q315K +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3357209	NM_001374385.1(ATP8B1):c.941-1G>A	ATP8B1, LOC126862761	Single nucleotide variant (splice acceptor variant)	ATP8B1-related disorder	GLikely pathogenic
Select item 3355786	NM_001374385.1(ATP8B1):c.273A>G (p.Lys91=)	ATP8B1	Single nucleotide variant (synonymous variant +1 more)	ATP8B1-related disorder	GUncertain significance
Select item 3354675	NM_001374385.1(ATP8B1):c.2943G>A (p.Glu981=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder	GLikely benign
Select item 3354406	NM_001374385.1(ATP8B1):c.3415G>A (p.Ala1139Thr)	ATP8B1, ATP8B1-AS1 (A1089T +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3354007	NM_001374385.1(ATP8B1):c.3341T>C (p.Met1114Thr)	ATP8B1, ATP8B1-AS1 (M1064T +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3352129	NM_001374385.1(ATP8B1):c.1574G>A (p.Arg525Gln)	ATP8B1 (R475Q +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3350607	NM_001374385.1(ATP8B1):c.1805G>A (p.Arg602Gln)	ATP8B1 (R552Q +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3350228	NM_001374385.1(ATP8B1):c.656A>G (p.Glu219Gly)	ATP8B1 (E169G +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3349740	NM_001374385.1(ATP8B1):c.2312A>G (p.Asn771Ser)	ATP8B1, ATP8B1-AS1 (N721S +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3349065	NM_001374385.1(ATP8B1):c.1735A>G (p.Ile579Val)	ATP8B1 (I529V +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3346113	NM_001374385.1(ATP8B1):c.3403A>C (p.Thr1135Pro)	ATP8B1, ATP8B1-AS1 (T1085P +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3345791	NM_001374385.1(ATP8B1):c.826_827delinsTT (p.Thr276Leu)	ATP8B1 (T226L +1 more)	Indel (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3344518	NM_001374385.1(ATP8B1):c.2098-9A>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP8B1-related disorder	GLikely benign
Select item 3344051	NM_001374385.1(ATP8B1):c.781+1G>A	ATP8B1	Single nucleotide variant (splice donor variant)	ATP8B1-related disorder	GPathogenic
Select item 3341319	NM_001374385.1(ATP8B1):c.1955G>C (p.Arg652Thr)	ATP8B1 (R602T +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 3339421	NM_001374385.1(ATP8B1):c.1264G>C (p.Asp422His)	ATP8B1 (D372H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336442	NM_001374385.1(ATP8B1):c.697G>A (p.Gly233Arg)	ATP8B1 (G183R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336297	NM_001374385.1(ATP8B1):c.2081T>C (p.Ile694Thr)	ATP8B1 (I644T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329921	NM_001374385.1(ATP8B1):c.685G>A (p.Ala229Thr)	ATP8B1 (A229T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329912	NM_001374385.1(ATP8B1):c.566C>G (p.Ala189Gly)	ATP8B1 (A139G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329908	NM_001374385.1(ATP8B1):c.1803G>C (p.Lys601Asn)	ATP8B1 (K551N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251916	NM_001374385.1(ATP8B1):c.1030A>T (p.Ile344Phe)	ATP8B1 (I294F +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis	GLikely pathogenic
Select item 3251681	NM_001374385.1(ATP8B1):c.2063A>G (p.Asp688Gly)	ATP8B1 (D638G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242803	NC_000018.9:g.(?_55335641)_(55711960_?)dup	ATP8B1, NEDD4L	Duplication	not provided	GUncertain significance
Select item 3242796	NC_000018.9:g.(?_55368251)_(55371920_?)del	ATP8B1	Deletion	not provided	GPathogenic
Select item 3242795	NC_000018.9:g.(?_55321204)_(55321327_?)del	ATP8B1	Deletion	not provided	GPathogenic
Select item 3242049	NM_001374385.1(ATP8B1):c.1057G>T (p.Ala353Ser)	ATP8B1 (A303S +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 3240830	NM_001374385.1(ATP8B1):c.3424C>T (p.Gln1142Ter)	ATP8B1, ATP8B1-AS1 (Q1092* +1 more)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 3240829	NM_001374385.1(ATP8B1):c.2873del (p.Asn958fs)	ATP8B1, ATP8B1-AS1 (N908fs +1 more)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GPathogenic
Select item 3240828	NM_001374385.1(ATP8B1):c.1680dup (p.Ala561fs)	ATP8B1 (A511fs +1 more)	Duplication (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 3240827	NM_001374385.1(ATP8B1):c.940+1G>C	ATP8B1	Single nucleotide variant (splice donor variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 3240825	NM_001374385.1(ATP8B1):c.1882C>T (p.Arg628Trp)	ATP8B1 (R578W +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 3240824	NM_001374385.1(ATP8B1):c.181G>T (p.Glu61Ter)	ATP8B1 (E61* +1 more)	Single nucleotide variant (nonsense +1 more)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 3240823	NM_001374385.1(ATP8B1):c.737_738del (p.Thr246fs)	ATP8B1 (T196fs +1 more)	Microsatellite (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 3235024	NM_001374385.1(ATP8B1):c.3269T>C (p.Leu1090Ser)	ATP8B1, ATP8B1-AS1 (L1040S +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1	GUncertain significance
Select item 3131977	NM_001374385.1(ATP8B1):c.3596G>A (p.Arg1199His)	ATP8B1, ATP8B1-AS1 (R1149H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131975	NM_001374385.1(ATP8B1):c.278C>T (p.Ala93Val)	ATP8B1 (A93V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131974	NM_001374385.1(ATP8B1):c.2627T>C (p.Val876Ala)	ATP8B1, ATP8B1-AS1 (V876A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131973	NM_001374385.1(ATP8B1):c.2372T>C (p.Phe791Ser)	ATP8B1, ATP8B1-AS1 (F741S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131972	NM_001374385.1(ATP8B1):c.2079G>C (p.Glu693Asp)	ATP8B1 (E693D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131971	NM_001374385.1(ATP8B1):c.2029A>G (p.Ser677Gly)	ATP8B1 (S677G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131970	NM_001374385.1(ATP8B1):c.1993G>C (p.Glu665Gln)	ATP8B1 (E615Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131969	NM_001374385.1(ATP8B1):c.1862C>G (p.Ala621Gly)	ATP8B1 (A571G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131968	NM_001374385.1(ATP8B1):c.1214A>G (p.Tyr405Cys)	ATP8B1 (Y405C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068233	NM_001374385.1(ATP8B1):c.886C>A (p.Arg296Ser)	ATP8B1 (R246S +1 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 1	GLikely pathogenic
Select item 3065818	NM_001374385.1(ATP8B1):c.698+1G>T	ATP8B1	Single nucleotide variant (splice donor variant)	Cholestasis, intrahepatic, of pregnancy, 1	GLikely pathogenic
Select item 3064870	NM_001374385.1(ATP8B1):c.68C>T (p.Pro23Leu)	ATP8B1 (P23L +1 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 1	GUncertain significance
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3061363	NM_001374385.1(ATP8B1):c.2649C>G (p.Tyr883Ter)	ATP8B1, ATP8B1-AS1 (Y833* +1 more)	Single nucleotide variant (nonsense)	ATP8B1-related disorder	GLikely pathogenic
Select item 3061247	NM_001374385.1(ATP8B1):c.3178G>C (p.Gly1060Arg)	ATP8B1, ATP8B1-AS1 (G1010R +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3059589	NM_001374385.1(ATP8B1):c.2577G>A (p.Glu859=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder	GLikely benign
Select item 3058589	NM_001374385.1(ATP8B1):c.2103G>A (p.Leu701=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP8B1-related disorder	GLikely benign
Select item 3054654	NM_001374385.1(ATP8B1):c.698+3_698+6del	ATP8B1	Deletion (splice donor variant)	ATP8B1-related disorder	GUncertain significance
Select item 3049779	NM_001374385.1(ATP8B1):c.3588G>A (p.Gln1196=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder	GLikely benign
Select item 3049089	NM_001374385.1(ATP8B1):c.1719C>T (p.Thr573=)	ATP8B1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder	GLikely benign
Select item 3047895	NM_001374385.1(ATP8B1):c.3261+4C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 3046537	NM_001374385.1(ATP8B1):c.3531+5A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 3045286	NM_001374385.1(ATP8B1):c.1820-5A>G	ATP8B1	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 3044471	NM_001374385.1(ATP8B1):c.163C>T (p.Arg55Trp)	ATP8B1 (R55W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3036782	NM_001374385.1(ATP8B1):c.1029+6T>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 3036363	NM_001374385.1(ATP8B1):c.1029+4T>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 3036341	NM_001374385.1(ATP8B1):c.3015+4G>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 3036017	NM_001374385.1(ATP8B1):c.1029+5T>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 3035589	NM_001374385.1(ATP8B1):c.2098-4C>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP8B1-related disorder	GLikely benign
Select item 3034331	NM_001374385.1(ATP8B1):c.2398A>G (p.Ile800Val)	ATP8B1, ATP8B1-AS1 (I750V +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3032514	NM_001374385.1(ATP8B1):c.3152C>G (p.Pro1051Arg)	ATP8B1, ATP8B1-AS1 (P1001R +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3030980	NM_001374385.1(ATP8B1):c.1127G>A (p.Gly376Glu)	ATP8B1 (G326E +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3030182	NM_001374385.1(ATP8B1):c.3680T>G (p.Ile1227Ser)	ATP8B1, ATP8B1-AS1 (I1177S +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3029942	NM_001374385.1(ATP8B1):c.2098-7A>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP8B1-related disorder	GLikely benign
Select item 3029615	NM_001374385.1(ATP8B1):c.113C>G (p.Ser38Cys)	ATP8B1 (L21V +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3029438	NM_001374385.1(ATP8B1):c.-61A>T	ATP8B1	Single nucleotide variant (5 prime UTR variant)	ATP8B1-related disorder	GLikely benign
Select item 3029209	NM_001374385.1(ATP8B1):c.1927C>T (p.Leu643=)	ATP8B1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder	GLikely benign
Select item 3028997	NM_001374385.1(ATP8B1):c.-9G>T	ATP8B1	Single nucleotide variant (5 prime UTR variant)	ATP8B1-related disorder	GLikely benign
Select item 3023997	NM_001374385.1(ATP8B1):c.3360T>A (p.Ala1120=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023989	NM_001374385.1(ATP8B1):c.3015+12G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023820	NM_001374385.1(ATP8B1):c.3532-17A>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020805	NM_001374385.1(ATP8B1):c.2931+20_2931+22del	ATP8B1, ATP8B1-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3020776	NM_001374385.1(ATP8B1):c.2707+11C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019494	NM_001374385.1(ATP8B1):c.36C>T (p.Asp12=)	ATP8B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018712	NM_001374385.1(ATP8B1):c.2961C>G (p.Leu987=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018247	NM_001374385.1(ATP8B1):c.1269G>A (p.Leu423=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017921	NM_001374385.1(ATP8B1):c.1401A>G (p.Lys467=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017851	NM_001374385.1(ATP8B1):c.1923T>C (p.Asp641=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015501	NM_001374385.1(ATP8B1):c.480G>C (p.Leu160=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015350	NM_001374385.1(ATP8B1):c.1644C>T (p.Tyr548=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013602	NM_001374385.1(ATP8B1):c.3561G>A (p.Ala1187=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3012337	NM_001374385.1(ATP8B1):c.2964C>T (p.Tyr988=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011685	NM_001374385.1(ATP8B1):c.1593C>T (p.Leu531=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010937	NM_001374385.1(ATP8B1):c.2286-6C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010622	NM_001374385.1(ATP8B1):c.969T>C (p.Ser323=)	ATP8B1, LOC126862761	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010566	NM_001374385.1(ATP8B1):c.837A>G (p.Leu279=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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