ClinVar for Gene (Select 100505549) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 519

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371045	NM_001374385.1(ATP8B1):c.3220G>A (p.Val1074Ile)	ATP8B1, ATP8B1-AS1 (V1024I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 3036341	NM_001374385.1(ATP8B1):c.3015+4G>C	ATP8B1, ATP8B1-AS1	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 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 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 3018712	NM_001374385.1(ATP8B1):c.2961C>G (p.Leu987=)	ATP8B1, ATP8B1-AS1	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 3010937	NM_001374385.1(ATP8B1):c.2286-6C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007186	NM_001374385.1(ATP8B1):c.2931+9A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005711	NM_001374385.1(ATP8B1):c.3747G>A (p.Gly1249=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003526	NM_001374385.1(ATP8B1):c.3016-19_3016-18del	ATP8B1, ATP8B1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 3003524	NM_001374385.1(ATP8B1):c.2931+20A>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002435	NM_001374385.1(ATP8B1):c.3621G>T (p.Ser1207=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002079	NM_001374385.1(ATP8B1):c.2098-5T>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3001980	NM_001374385.1(ATP8B1):c.3492A>T (p.Arg1164=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001649	NM_001374385.1(ATP8B1):c.3531+14A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001495	NM_001374385.1(ATP8B1):c.3735C>T (p.Tyr1245=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001120	NM_001374385.1(ATP8B1):c.2691C>T (p.Asp897=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001021	NM_001374385.1(ATP8B1):c.3532-18C>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000322	NM_001374385.1(ATP8B1):c.2098-8C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2997762	NM_001374385.1(ATP8B1):c.3282T>C (p.Tyr1094=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997049	NM_001374385.1(ATP8B1):c.2967C>T (p.Asn989=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996293	NM_001374385.1(ATP8B1):c.3423A>G (p.Arg1141=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995659	NM_001374385.1(ATP8B1):c.2733T>C (p.Ser911=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994598	NM_001374385.1(ATP8B1):c.2932-18T>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993913	NM_001374385.1(ATP8B1):c.2790A>G (p.Arg930=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992668	NM_001374385.1(ATP8B1):c.2931+17A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992350	NM_001374385.1(ATP8B1):c.3636G>C (p.Ser1212=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992070	NM_001374385.1(ATP8B1):c.2574C>T (p.Cys858=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991992	NM_001374385.1(ATP8B1):c.3672G>A (p.Gly1224=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991406	NM_001374385.1(ATP8B1):c.2133G>A (p.Gln711=)	ATP8B1-AS1, ATP8B1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2990894	NM_001374385.1(ATP8B1):c.2210-13del	ATP8B1, ATP8B1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 2989422	NM_001374385.1(ATP8B1):c.2235T>G (p.Ala745=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988645	NM_001374385.1(ATP8B1):c.3195A>T (p.Ala1065=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987607	NM_001374385.1(ATP8B1):c.3657C>T (p.Asp1219=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986228	NM_001374385.1(ATP8B1):c.3249A>G (p.Thr1083=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985820	NM_001374385.1(ATP8B1):c.2298T>C (p.His766=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984034	NM_001374385.1(ATP8B1):c.2694G>C (p.Val898=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981161	NM_001374385.1(ATP8B1):c.2286-14T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979577	NM_001374385.1(ATP8B1):c.3003G>C (p.Gly1001=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979392	NM_001374385.1(ATP8B1):c.2128C>T (p.Leu710=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2978949	NM_001374385.1(ATP8B1):c.3201C>A (p.Ser1067=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978851	NM_001374385.1(ATP8B1):c.3015+11C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978743	NM_001374385.1(ATP8B1):c.3711C>T (p.Ile1237=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978299	NM_001374385.1(ATP8B1):c.3564G>A (p.Glu1188=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978178	NM_001374385.1(ATP8B1):c.2331C>T (p.Gly777=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977073	NM_001374385.1(ATP8B1):c.3174C>T (p.Thr1058=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974509	NM_001374385.1(ATP8B1):c.2940C>T (p.Tyr980=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974156	NM_001374385.1(ATP8B1):c.2286-13T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973997	NM_001374385.1(ATP8B1):c.2715C>T (p.His905=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973718	NM_001374385.1(ATP8B1):c.3111G>A (p.Leu1037=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972202	NM_001374385.1(ATP8B1):c.2184C>T (p.Ile728=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2972138	NM_001374385.1(ATP8B1):c.3472C>T (p.Leu1158=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970222	NM_001374385.1(ATP8B1):c.3414C>T (p.Asn1138=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969455	NM_001374385.1(ATP8B1):c.3180G>C (p.Gly1060=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968647	NM_001374385.1(ATP8B1):c.3532-9C>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967630	NM_001374385.1(ATP8B1):c.3531+13T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964554	NM_001374385.1(ATP8B1):c.2982C>T (p.Ser994=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963793	NM_001374385.1(ATP8B1):c.3432C>T (p.Tyr1144=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963750	NM_001374385.1(ATP8B1):c.3531+17C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961911	NM_001374385.1(ATP8B1):c.2932-14T>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961700	NM_001374385.1(ATP8B1):c.2708-4A>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961479	NM_001374385.1(ATP8B1):c.3612G>T (p.Thr1204=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959244	NM_001374385.1(ATP8B1):c.2433C>T (p.Leu811=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956483	NM_001374385.1(ATP8B1):c.3532-14T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955171	NM_001374385.1(ATP8B1):c.3015+8C>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954992	NM_001374385.1(ATP8B1):c.3732G>A (p.Glu1244=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908684	NM_001374385.1(ATP8B1):c.2589C>T (p.Val863=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907817	NM_001374385.1(ATP8B1):c.3262-8C>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 6