5205[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
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 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 147283	GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1	ALPK2, ATP8B1 +177 more	Copy number loss	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 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 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 663413	NC_000018.9:g.(?_55225777)_(56940458_?)dup	LOC130062566, LOC130062567 +87 more	Duplication	not provided	GUncertain significance
Select item 327438	NM_001374385.1(ATP8B1):c.*2015del	ATP8B1, ATP8B1-AS1	Deletion (3 prime UTR variant)	Progressive familial intrahepatic cholestasis	GBenign
Select item 890981	NM_001374385.1(ATP8B1):c.*1945C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327439	NM_001374385.1(ATP8B1):c.*1940A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 327440	NM_001374385.1(ATP8B1):c.*1937T>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 890982	NM_001374385.1(ATP8B1):c.*1851G>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890983	NM_001374385.1(ATP8B1):c.*1833G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892210	NM_001374385.1(ATP8B1):c.*1796G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327441	NM_001374385.1(ATP8B1):c.*1723G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 892211	NM_001374385.1(ATP8B1):c.*1676G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892212	NM_001374385.1(ATP8B1):c.*1629T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327442	NM_001374385.1(ATP8B1):c.*1553T>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GLikely benign
Select item 892213	NM_001374385.1(ATP8B1):c.*1546A>C	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327443	NM_001374385.1(ATP8B1):c.*1524T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327444	NM_001374385.1(ATP8B1):c.*1509A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1 +1 more	GBenign
Select item 888778	NM_001374385.1(ATP8B1):c.*1403G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888779	NM_001374385.1(ATP8B1):c.*1333T>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327445	NM_001374385.1(ATP8B1):c.*1254T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 888780	NM_001374385.1(ATP8B1):c.*1243T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888781	NM_001374385.1(ATP8B1):c.*1133A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327446	NM_001374385.1(ATP8B1):c.*1095A>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327447	NM_001374385.1(ATP8B1):c.*1083T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327448	NM_001374385.1(ATP8B1):c.*968T>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890486	NM_001374385.1(ATP8B1):c.*900G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GLikely benign
Select item 327449	NM_001374385.1(ATP8B1):c.*900G>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 890487	NM_001374385.1(ATP8B1):c.*899C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327450	NM_001374385.1(ATP8B1):c.*888C>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GBenign
Select item 327451	NM_001374385.1(ATP8B1):c.*827T>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GLikely benign
Select item 890488	NM_001374385.1(ATP8B1):c.*799G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327452	NM_001374385.1(ATP8B1):c.*776G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890489	NM_001374385.1(ATP8B1):c.*741A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 891043	NM_001374385.1(ATP8B1):c.*735T>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327453	NM_001374385.1(ATP8B1):c.*735T>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 891044	NM_001374385.1(ATP8B1):c.*734A>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 891045	NM_001374385.1(ATP8B1):c.*727A>C	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327454	NM_001374385.1(ATP8B1):c.*694T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 891046	NM_001374385.1(ATP8B1):c.*676G>A	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327455	NM_001374385.1(ATP8B1):c.*651T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 891047	NM_001374385.1(ATP8B1):c.*649C>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327456	NM_001374385.1(ATP8B1):c.*646G>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327457	NM_001374385.1(ATP8B1):c.*587G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1 +1 more	GBenign
Select item 327458	NM_001374385.1(ATP8B1):c.*531C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892267	NM_001374385.1(ATP8B1):c.*506G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327459	NM_001374385.1(ATP8B1):c.*503G>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892268	NM_001374385.1(ATP8B1):c.*467G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327460	NM_001374385.1(ATP8B1):c.*440C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327461	NM_001374385.1(ATP8B1):c.*426G>A	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888864	NM_001374385.1(ATP8B1):c.*340C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888865	NM_001374385.1(ATP8B1):c.*296C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888866	NM_001374385.1(ATP8B1):c.*292C>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
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 888867	NM_001374385.1(ATP8B1):c.*261G>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888868	NM_001374385.1(ATP8B1):c.*242T>C	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327463	NM_001374385.1(ATP8B1):c.*212T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327464	NM_001374385.1(ATP8B1):c.*132C>G	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 327465	NM_001374385.1(ATP8B1):c.*102G>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
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 3005711	NM_001374385.1(ATP8B1):c.3747G>A (p.Gly1249=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	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 286337	NM_001374385.1(ATP8B1):c.3739C>T (p.Arg1247Cys)	ATP8B1, ATP8B1-AS1 (R1247C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2297366	NM_001374385.1(ATP8B1):c.3733T>C (p.Tyr1245His)	ATP8B1, ATP8B1-AS1 (Y1195H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2870908	NM_001374385.1(ATP8B1):c.3729G>C (p.Ala1243=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793348	NM_001374385.1(ATP8B1):c.3729G>A (p.Ala1243=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 595604	NM_001374385.1(ATP8B1):c.3727G>A (p.Ala1243Thr)	ATP8B1, ATP8B1-AS1 (A1243T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 286355	NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser)	ATP8B1, ATP8B1-AS1 (T1242S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2687833	NM_001374385.1(ATP8B1):c.3722del (p.Gly1241fs)	ATP8B1-AS1, ATP8B1 (G1191fs +1 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 2833443	NM_001374385.1(ATP8B1):c.3717G>A (p.Ala1239=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous 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 2875074	NM_001374385.1(ATP8B1):c.3705T>C (p.Asp1235=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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