Related gene-specific medical variations for Gene (Select 5244) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269608	NM_021151.4(CROT):c.1730C>G (p.Ala577Gly)	ABCB4, CROT (A577G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269607	NM_021151.4(CROT):c.983C>G (p.Ala328Gly)	ABCB4, CROT (A328G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269606	NM_021151.4(CROT):c.1661T>C (p.Val554Ala)	ABCB4, CROT (V554A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269605	NM_021151.4(CROT):c.686A>T (p.His229Leu)	ABCB4, CROT (H229L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269604	NM_021151.4(CROT):c.1418C>T (p.Ser473Phe)	ABCB4, CROT (S473F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3253044	NM_000443.4(ABCB4):c.1A>G (p.Met1Val)	ABCB4, LOC129998756 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3245854	NC_000007.13:g.(?_87076330)_(87076541_?)del	ABCB4	Deletion	not provided	GPathogenic
Select item 3245853	NC_000007.13:g.(?_87031412)_(87104781_?)del	ABCB4	Deletion	not provided	GPathogenic
Select item 3238752	NM_000443.4(ABCB4):c.3081+2_3081+19del	ABCB4	Deletion (splice donor variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 3233386	NM_000443.4(ABCB4):c.1560+3A>G	ABCB4	Single nucleotide variant (intron variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 3077623	NM_021151.4(CROT):c.1688A>G (p.Tyr563Cys)	ABCB4, CROT (Y591C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077622	NM_021151.4(CROT):c.1600G>A (p.Gly534Arg)	ABCB4, CROT (G534R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077621	NM_021151.4(CROT):c.1582C>G (p.Pro528Ala)	ABCB4, CROT (P528A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077620	NM_021151.4(CROT):c.1406T>C (p.Met469Thr)	ABCB4, CROT (M469T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077619	NM_021151.4(CROT):c.1120G>A (p.Glu374Lys)	ABCB4, CROT (E402K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067871	NM_000443.4(ABCB4):c.766G>A (p.Ala256Thr)	ABCB4 (A256T)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3067853	NM_000443.4(ABCB4):c.1196T>C (p.Val399Ala)	ABCB4 (V399A)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3065637	NM_000443.4(ABCB4):c.3506G>A (p.Gly1169Glu)	ABCB4 (G1122E +2 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3065357	NM_000443.4(ABCB4):c.742G>C (p.Ala248Pro)	ABCB4 (A248P)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 3065138	NM_000443.4(ABCB4):c.334G>T (p.Glu112Ter)	ABCB4 (E112*)	Single nucleotide variant (nonsense)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3064873	NM_000443.4(ABCB4):c.1528A>G (p.Asn510Asp)	ABCB4 (N510D)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 3064724	NM_000443.4(ABCB4):c.793A>T (p.Thr265Ser)	ABCB4 (T265S)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3064147	NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg)	ABCB4	Single nucleotide variant (stop lost)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3047421	NM_000443.4(ABCB4):c.41C>T (p.Pro14Leu)	ABCB4, LOC129998756 (P14L)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3031126	NM_000443.4(ABCB4):c.24C>T (p.Asn8=)	ABCB4, LOC129998756	Single nucleotide variant (synonymous variant)	ABCB4-related disorder	GLikely benign
Select item 2775432	NM_000443.4(ABCB4):c.2380G>C (p.Ala794Pro)	ABCB4 (A794P)	Single nucleotide variant (missense variant)	Low phospholipid associated cholelithiasis +1 more	GLikely pathogenic
Select item 2752437	NM_000443.4(ABCB4):c.56G>A (p.Gly19Asp)	ABCB4, LOC129998756 (G19D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709247	NM_000443.4(ABCB4):c.45G>A (p.Thr15=)	ABCB4, LOC129998756	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690802	NM_000443.4(ABCB4):c.3597T>A (p.Asp1199Glu)	ABCB4 (D1152E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690801	NM_000443.4(ABCB4):c.3694C>T (p.Arg1232Cys)	ABCB4 (R1185C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2687836	NM_000443.4(ABCB4):c.1906C>T (p.Gln636Ter)	ABCB4 (Q636*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687822	NM_000443.4(ABCB4):c.2064+5G>A	ABCB4	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
Select item 2687821	NM_000443.4(ABCB4):c.784del (p.Ala262fs)	ABCB4 (A262fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687820	NM_000443.4(ABCB4):c.2864G>T (p.Cys955Phe)	ABCB4 (C955F)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687819	NM_000443.4(ABCB4):c.1634G>A (p.Arg545His)	ABCB4 (R545H)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687818	NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)	ABCB4 (K30fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687817	NM_000443.4(ABCB4):c.944C>A (p.Ala315Asp)	ABCB4 (A315D)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687816	NM_000443.4(ABCB4):c.1571C>A (p.Thr524Asn)	ABCB4 (T524N)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687815	NM_000443.4(ABCB4):c.1635del (p.Ala546fs)	ABCB4 (A546fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687814	NM_000443.4(ABCB4):c.1429C>T (p.Gln477Ter)	ABCB4 (Q477*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687813	NM_000443.4(ABCB4):c.3412del (p.Val1138fs)	ABCB4 (V1091fs +2 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687811	NM_000443.4(ABCB4):c.1733C>T (p.Ala578Val)	ABCB4 (A578V)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687810	NM_000443.4(ABCB4):c.3770del (p.Gln1257fs)	ABCB4 (Q1210fs +2 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687808	NM_000443.4(ABCB4):c.2306_2309del (p.Phe769fs)	ABCB4 (F769fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687807	NM_000443.4(ABCB4):c.2861G>A (p.Gly954Asp)	ABCB4 (G954D)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2611732	NM_021151.4(CROT):c.1547A>G (p.Glu516Gly)	ABCB4, CROT (E516G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558024	NM_021151.4(CROT):c.1534C>T (p.Leu512Phe)	ABCB4, CROT (L540F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549920	NM_000443.4(ABCB4):c.32C>G (p.Ala11Gly)	ABCB4, LOC129998756 (A11G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538658	NM_021151.4(CROT):c.674A>T (p.His225Leu)	ABCB4, CROT (H253L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516450	NM_021151.4(CROT):c.755G>A (p.Arg252Gln)	ABCB4, CROT (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507720	NM_021151.4(CROT):c.1027G>A (p.Asp343Asn)	ABCB4, CROT (D371N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2438735	NM_000443.4(ABCB4):c.2817T>G (p.Ile939Met)	ABCB4 (I939M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438734	NM_000443.4(ABCB4):c.1888A>G (p.Met630Val)	ABCB4 (M630V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438733	NM_000443.4(ABCB4):c.400C>A (p.Gln134Lys)	ABCB4 (Q134K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438732	NM_000443.4(ABCB4):c.2194T>C (p.Phe732Leu)	ABCB4 (F732L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432512	NM_000443.4(ABCB4):c.433C>T (p.Gln145Ter)	ABCB4 (Q145*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2409026	NM_021151.4(CROT):c.1240C>A (p.Leu414Ile)	ABCB4, CROT (L414I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406776	NM_021151.4(CROT):c.1352G>A (p.Arg451His)	ABCB4, CROT (R479H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399663	NM_021151.4(CROT):c.1112T>C (p.Ile371Thr)	ABCB4, CROT (I371T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369826	NM_021151.4(CROT):c.712G>A (p.Ala238Thr)	ABCB4, CROT (A266T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368619	NM_021151.4(CROT):c.1378G>C (p.Val460Leu)	ABCB4, CROT (V460L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336571	NM_021151.4(CROT):c.1636G>T (p.Val546Phe)	ABCB4, CROT (V546F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333835	NM_021151.4(CROT):c.1021T>C (p.Tyr341His)	ABCB4, CROT (Y341H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327902	NM_021151.4(CROT):c.776A>C (p.Asp259Ala)	ABCB4, CROT (D287A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311661	NM_021151.4(CROT):c.1359G>C (p.Glu453Asp)	ABCB4, CROT (E481D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280711	NM_021151.4(CROT):c.1037T>G (p.Ile346Ser)	ABCB4, CROT (I346S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268768	NM_021151.4(CROT):c.815G>A (p.Ser272Asn)	ABCB4, CROT (S272N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267151	NM_021151.4(CROT):c.640C>A (p.Pro214Thr)	ABCB4, CROT (P214T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260349	NM_021151.4(CROT):c.920G>A (p.Gly307Asp)	ABCB4, CROT (G307D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248128	NM_021151.4(CROT):c.1433A>G (p.Glu478Gly)	ABCB4, CROT (E506G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801456	NM_000443.4(ABCB4):c.135+3688_135+3689insTTTATTTATTTTATTTTATTTTATATTATTTTTATCTTAT	ABCB4	Microsatellite (intron variant)	Schizophrenia	GUncertain significance
Select item 1676390	NM_000443.4(ABCB4):c.3082-179C>G	ABCB4	Single nucleotide variant	not provided	GLikely benign
Select item 1245231	NC_000007.14:g.87475843A>G	ABCB4, LOC129998758	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 931717	NM_000443.4(ABCB4):c.2161A>C (p.Asn721His)	ABCB4 (N721H)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 795895	NM_000443.4(ABCB4):c.12G>T (p.Glu4Asp)	ABCB4, LOC129998756 (E4D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721357	NM_021151.4(CROT):c.1063-8A>G	ABCB4, CROT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 598208	NM_000443.4(ABCB4):c.54G>A (p.Glu18=)	ABCB4, LOC129998756	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 360805	NM_000443.4(ABCB4):c.-18G>T	ABCB4, LOC129998757	Single nucleotide variant (5 prime UTR variant)	Cholestasis, intrahepatic, of pregnancy, 3 +2 more	GUncertain significance
Select item 360804	NM_000443.4(ABCB4):c.-6-4T>C	ABCB4, LOC129998756	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 256156	NM_000443.4(ABCB4):c.-1G>A	ABCB4, LOC129998756	Single nucleotide variant (5 prime UTR variant)	Cholestasis, intrahepatic, of pregnancy, 3 +2 more	GBenign

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Links from Gene

Items: 80