"GeneDx"[submitter] AND "ATP8B1-AS1"[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 327462	NM_001374385.1(ATP8B1):c.*283G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 259814	NM_001374385.1(ATP8B1):c.*11C>T	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 196131	NM_001374385.1(ATP8B1):c.*10C>T	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 259825	NM_001374385.1(ATP8B1):c.3744C>A (p.Thr1248=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 286355	NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser)	ATP8B1-AS1, ATP8B1 (T1242S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 259824	NM_001374385.1(ATP8B1):c.3699G>A (p.Pro1233=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 327466	NM_001374385.1(ATP8B1):c.3696G>A (p.Ser1232=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 389738	NM_001374385.1(ATP8B1):c.3655G>A (p.Asp1219Asn)	ATP8B1, ATP8B1-AS1 (D1219N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259823	NM_001374385.1(ATP8B1):c.3532-15C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	Cholestasis, intrahepatic, of pregnancy, 1 +3 more	GBenign
Select item 1285953	NM_001374385.1(ATP8B1):c.3532-171_3532-170insACACATACACAC	ATP8B1, ATP8B1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1272896	NM_001374385.1(ATP8B1):c.3532-170C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269607	NM_001374385.1(ATP8B1):c.3532-171_3532-170insACACATACACACAC	ATP8B1, ATP8B1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1265052	NM_001374385.1(ATP8B1):c.3532-171_3532-170insACACATACACACACAC	ATP8B1, ATP8B1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1250488	NM_001374385.1(ATP8B1):c.3532-171_3532-170insACACATACAC	ATP8B1, ATP8B1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1239773	NM_001374385.1(ATP8B1):c.3532-171_3532-170insAT	ATP8B1, ATP8B1-AS1	Insertion (intron variant)	not provided	GBenign
Select item 259822	NM_001374385.1(ATP8B1):c.3531+8G>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 259821	NM_001374385.1(ATP8B1):c.3477C>T (p.Pro1159=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 506458	NM_001374385.1(ATP8B1):c.3454= (p.Ala1152=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (no sequence alteration)	not specified +1 more	GLikely benign
Select item 1261630	NM_001374385.1(ATP8B1):c.3401-108C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180894	NM_001374385.1(ATP8B1):c.3401-167C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257475	NM_001374385.1(ATP8B1):c.3401-175C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188729	NM_001374385.1(ATP8B1):c.3401-335C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234664	NM_001374385.1(ATP8B1):c.3400+305A>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286298	NM_001374385.1(ATP8B1):c.3400+235del	ATP8B1, ATP8B1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1321485	NM_001374385.1(ATP8B1):c.3400+113T>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265634	NM_001374385.1(ATP8B1):c.3262-40C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281611	NM_001374385.1(ATP8B1):c.3262-68T>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321610	NM_001374385.1(ATP8B1):c.3262-137G>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281651	NM_001374385.1(ATP8B1):c.3261+156A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 327470	NM_001374385.1(ATP8B1):c.3016-9C>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 383902	NM_001374385.1(ATP8B1):c.3016-19A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1286051	NM_001374385.1(ATP8B1):c.3015+148T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 327471	NM_001374385.1(ATP8B1):c.2988C>T (p.Pro996=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 389643	NM_001374385.1(ATP8B1):c.2932-3C>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1266431	NM_001374385.1(ATP8B1):c.2932-283C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236129	NM_001374385.1(ATP8B1):c.2931+303G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211545	NM_001374385.1(ATP8B1):c.2931+208G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259110	NM_001374385.1(ATP8B1):c.2931+59T>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 327474	NM_001374385.1(ATP8B1):c.2931+14G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 383017	NM_001374385.1(ATP8B1):c.2931+12T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 498613	NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 682118	NM_001374385.1(ATP8B1):c.2916T>C (p.Asn972=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259820	NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln)	ATP8B1, ATP8B1-AS1 (R952Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 595193	NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)	ATP8B1, ATP8B1-AS1 (R952* +1 more)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 1 +1 more	GPathogenic
Select item 385799	NM_001374385.1(ATP8B1):c.2796G>A (p.Leu932=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 259819	NM_001374385.1(ATP8B1):c.2789G>A (p.Arg930Gln)	ATP8B1-AS1, ATP8B1 (R930Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 671637	NM_001374385.1(ATP8B1):c.2721C>T (p.Gly907=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 512300	NM_001374385.1(ATP8B1):c.2707+9T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 386032	NM_001374385.1(ATP8B1):c.2664G>T (p.Thr888=)	ATP8B1-AS1, ATP8B1	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 1 +2 more	GBenign
Select item 327475	NM_001374385.1(ATP8B1):c.2637G>A (p.Leu879=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis +1 more	GConflicting classifications of pathogenicity
Select item 392974	NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 383293	NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln)	ATP8B1-AS1, ATP8B1 (R849Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 195683	NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn)	ATP8B1, ATP8B1-AS1 (K814N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1272753	NM_001374385.1(ATP8B1):c.2419-164_2419-159del	ATP8B1, ATP8B1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1181282	NM_001374385.1(ATP8B1):c.2419-184G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286205	NM_001374385.1(ATP8B1):c.2419-185C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189323	NM_001374385.1(ATP8B1):c.2419-214_2419-185del	ATP8B1, ATP8B1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1259409	NM_001374385.1(ATP8B1):c.2419-213_2419-212insTGTGTG	ATP8B1, ATP8B1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1290290	NM_001374385.1(ATP8B1):c.2419-234GT[14]	ATP8B1, ATP8B1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1261462	NM_001374385.1(ATP8B1):c.2419-214A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235263	NM_001374385.1(ATP8B1):c.2419-234GT[12]	ATP8B1, ATP8B1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1243227	NM_001374385.1(ATP8B1):c.2419-217_2419-216insTGTA	ATP8B1, ATP8B1-AS1	Insertion (intron variant)	not provided	GBenign
Select item 1275912	NM_001374385.1(ATP8B1):c.2419-219_2419-218insTA	ATP8B1, ATP8B1-AS1	Insertion (intron variant)	not provided	GBenign
Select item 1258589	NM_001374385.1(ATP8B1):c.2419-236A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246190	NM_001374385.1(ATP8B1):c.2418+305G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246219	NM_001374385.1(ATP8B1):c.2418+303G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510973	NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=)	ATP8B1-AS1, ATP8B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1279767	NM_001374385.1(ATP8B1):c.2286-91del	ATP8B1, ATP8B1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1237175	NM_001374385.1(ATP8B1):c.2286-223A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274366	NM_001374385.1(ATP8B1):c.2285+218C>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280505	NM_001374385.1(ATP8B1):c.2285+29C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391431	NM_001374385.1(ATP8B1):c.2251G>A (p.Glu751Lys)	ATP8B1-AS1, ATP8B1 (E751K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291896	NM_001374385.1(ATP8B1):c.2210-56TAAAA[4]	ATP8B1, ATP8B1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1265829	NM_001374385.1(ATP8B1):c.2210-114T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229040	NM_001374385.1(ATP8B1):c.2210-128T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222735	NM_001374385.1(ATP8B1):c.2210-178C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225096	NM_001374385.1(ATP8B1):c.2209+295C>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1287961	NM_001374385.1(ATP8B1):c.2209+249T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1236878	NM_001374385.1(ATP8B1):c.2209+166T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1240681	NM_001374385.1(ATP8B1):c.2209+111T>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 510061	NM_001374385.1(ATP8B1):c.2209+9T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1244138	NM_001374385.1(ATP8B1):c.2098-30_2098-23dup	ATP8B1, ATP8B1-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 327481	NM_001374385.1(ATP8B1):c.2098-21_2098-15dup	ATP8B1, ATP8B1-AS1	Duplication (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis +1 more	GBenign/Likely benign
Select item 327480	NM_001374385.1(ATP8B1):c.2098-20_2098-15dup	ATP8B1, ATP8B1-AS1	Duplication (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis +1 more	GBenign
Select item 327479	NM_001374385.1(ATP8B1):c.2098-19_2098-15dup	ATP8B1, ATP8B1-AS1	Duplication (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis +1 more	GBenign/Likely benign
Select item 327478	NM_001374385.1(ATP8B1):c.2098-18_2098-15dup	ATP8B1, ATP8B1-AS1	Duplication (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis +1 more	GBenign
Select item 327477	NM_001374385.1(ATP8B1):c.2098-17_2098-15dup	ATP8B1, ATP8B1-AS1	Duplication (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis +1 more	GBenign/Likely benign
Select item 1177954	NM_001374385.1(ATP8B1):c.2098-31C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1298054	NM_001374385.1(ATP8B1):c.2098-32C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1189141	NM_001374385.1(ATP8B1):c.2098-43G>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1286336	NM_001374385.1(ATP8B1):c.2098-175C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1268827	NM_001374385.1(ATP8B1):c.2098-188G>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1248086	NM_001374385.1(ATP8B1):c.2098-309T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1266937	NM_001374385.1(ATP8B1):c.2097+297C>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1263538	NM_001374385.1(ATP8B1):c.2097+89T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 98