ABCB8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 2317863	NM_007188.5(ABCB8):c.20G>T (p.Arg7Leu)	ABCB8 (R7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296823	NM_007188.5(ABCB8):c.61C>T (p.Pro21Ser)	ABCB8 (P21S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126768	NM_007188.5(ABCB8):c.78G>T (p.Gln26His)	ABCB8 (D43Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769736	NM_007188.5(ABCB8):c.116G>A (p.Ser39Asn)	ABCB8 (S39N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2221819	NM_007188.5(ABCB8):c.136G>A (p.Val46Met)	ABCB8 (V63M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296605	NM_007188.5(ABCB8):c.176G>A (p.Arg59Gln)	ABCB8 (R59Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548582	NM_007188.5(ABCB8):c.239G>T (p.Gly80Val)	ABCB8 (G97V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 733966	NM_007188.5(ABCB8):c.303C>T (p.Ala101=)	ABCB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3293679	NM_007188.5(ABCB8):c.325C>T (p.His109Tyr)	ABCB8 (H126Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727305	NM_007188.5(ABCB8):c.330C>T (p.Val110=)	ABCB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 774196	NM_007188.5(ABCB8):c.370C>G (p.Leu124Val)	ABCB8 (L124V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2403317	NM_007188.5(ABCB8):c.418G>A (p.Gly140Ser)	ABCB8 (G140S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365013	NM_007188.5(ABCB8):c.430G>A (p.Val144Met)	ABCB8 (V161M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126673	NM_007188.5(ABCB8):c.466G>T (p.Val156Leu)	ABCB8 (V156L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773219	NM_007188.5(ABCB8):c.564+4C>T	ABCB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785238	NM_007188.5(ABCB8):c.603C>T (p.His201=)	ABCB8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2321595	NM_007188.5(ABCB8):c.605T>C (p.Val202Ala)	ABCB8 (V114A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402464	NM_007188.5(ABCB8):c.827G>A (p.Arg276His)	ABCB8 (R188H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616037	NM_007188.5(ABCB8):c.829C>G (p.Leu277Val)	ABCB8 (L294V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126855	NM_007188.5(ABCB8):c.839T>C (p.Leu280Pro)	ABCB8 (L192P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603012	NM_007188.5(ABCB8):c.887G>T (p.Gly296Val)	ABCB8 (G296V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604004	NM_007188.5(ABCB8):c.911G>T (p.Arg304Leu)	ABCB8 (R216L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536269	NM_007188.5(ABCB8):c.934A>G (p.Arg312Gly)	ABCB8 (R224G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125418	NM_007188.5(ABCB8):c.1014G>T (p.Glu338Asp)	ABCB8 (E338D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598097	NM_007188.5(ABCB8):c.1066C>T (p.Arg356Cys)	ABCB8 (R268C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313861	NM_007188.5(ABCB8):c.1114A>G (p.Met372Val)	ABCB8 (M284V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125512	NM_007188.5(ABCB8):c.1270G>T (p.Ala424Ser)	ABCB8 (A336S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401278	NM_007188.5(ABCB8):c.1340C>G (p.Pro447Arg)	ABCB8 (P359R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792095	NM_007188.5(ABCB8):c.1355G>T (p.Arg452Leu)	ABCB8 (R469L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2513422	NM_007188.5(ABCB8):c.1363G>A (p.Val455Ile)	ABCB8 (V472I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225412	NM_007188.5(ABCB8):c.1399C>T (p.Arg467Cys)	ABCB8 (R467C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557664	NM_007188.5(ABCB8):c.1411G>A (p.Glu471Lys)	ABCB8 (E471K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593775	NM_007188.5(ABCB8):c.1465G>A (p.Val489Met)	ABCB8 (V401M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533752	NM_007188.5(ABCB8):c.1487A>G (p.Lys496Arg)	ABCB8 (K513R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125768	NM_007188.5(ABCB8):c.1522G>A (p.Asp508Asn)	ABCB8 (D508N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339533	NM_007188.5(ABCB8):c.1691T>G (p.Val564Gly)	ABCB8 (V564G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496106	NM_007188.5(ABCB8):c.1705C>G (p.Arg569Gly)	ABCB8 (R569G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125846	NM_007188.5(ABCB8):c.1706G>A (p.Arg569Gln)	ABCB8 (R569Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239211	NM_007188.5(ABCB8):c.1712C>T (p.Ala571Val)	ABCB8 (A588V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125904	NM_007188.5(ABCB8):c.1723G>A (p.Glu575Lys)	ABCB8 (E487K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400884	NM_007188.5(ABCB8):c.1744G>A (p.Glu582Lys)	ABCB8 (E599K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600162	NM_007188.5(ABCB8):c.1805G>A (p.Arg602His)	ABCB8 (R514H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126051	NM_007188.5(ABCB8):c.1816G>A (p.Ala606Thr)	ABCB8 (A518T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617145	NM_007188.5(ABCB8):c.1822G>T (p.Ala608Ser)	ABCB8 (A520S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126112	NM_007188.5(ABCB8):c.1892G>A (p.Arg631Gln)	ABCB8 (R648Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768217	NM_007188.5(ABCB8):c.1899A>G (p.Val633=)	ABCB8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2379776	NM_007188.5(ABCB8):c.1901A>G (p.Gln634Arg)	ABCB8 (Q634R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293413	NM_007188.5(ABCB8):c.1915C>T (p.Arg639Trp)	ABCB8 (R551W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307487	NM_007188.5(ABCB8):c.1990G>A (p.Val664Ile)	ABCB8 (V664I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293490	NM_007188.5(ABCB8):c.1993A>G (p.Met665Val)	ABCB8 (M682V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523412	NM_007188.5(ABCB8):c.2005C>T (p.Arg669Cys)	ABCB8 (R669C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 734474	NM_007188.5(ABCB8):c.2049C>T (p.Gly683=)	ABCB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621702	NM_007188.5(ABCB8):c.2050G>A (p.Gly684Arg)	ABCB8 (G659R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126260	NM_007188.5(ABCB8):c.2051G>A (p.Gly684Glu)	ABCB8 (G596E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293589	NM_007188.5(ABCB8):c.2098A>T (p.Thr700Ser)	ABCB8 (T612S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558471	NM_007188.5(ABCB8):c.2105C>T (p.Ala702Val)	ABCB8 (A702V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311785	NM_007188.5(ABCB8):c.2111C>T (p.Pro704Leu)	ABCB8 (P616L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126429	NM_007188.5(ABCB8):c.2120A>C (p.Lys707Thr)	ABCB8 (K682T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284379	NM_007188.5(ABCB8):c.2138G>A (p.Ser713Asn)	ABCB8 (S625N +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3245697	NC_000007.13:g.(?_150643945)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic

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