ABCB9[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 152933	GRCh38/hg38 12q24.31(chr12:122646987-123057419)x3	ABCB9, ARL6IP4 +38 more	Copy number gain	See cases	GUncertain significance
Select item 3126955	NM_019625.4(ABCB9):c.2278G>A (p.Ala760Thr)	ABCB9 (A697T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456832	NM_019625.4(ABCB9):c.2219G>A (p.Arg740Gln)	ABCB9 (R697Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293959	NM_019625.4(ABCB9):c.2152G>A (p.Val718Ile)	ABCB9 (V655I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126949	NM_019625.4(ABCB9):c.2150G>A (p.Arg717His)	ABCB9 (R674H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348070	NM_019625.4(ABCB9):c.2134G>T (p.Val712Leu)	ABCB9 (V669L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600040	NM_019625.4(ABCB9):c.2121G>A (p.Ala707=)	ABCB9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3126940	NM_019625.4(ABCB9):c.2119G>A (p.Ala707Thr)	ABCB9 (A644T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293861	NM_019625.4(ABCB9):c.2094G>A (p.Ala698=)	ABCB9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3126937	NM_019625.4(ABCB9):c.2093C>T (p.Ala698Val)	ABCB9 (A655V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521936	NM_019625.4(ABCB9):c.2079G>A (p.Thr693=)	ABCB9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3126930	NM_019625.4(ABCB9):c.2026G>A (p.Glu676Lys)	ABCB9 (E613K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225296	NM_019625.4(ABCB9):c.1975C>T (p.Arg659Trp)	ABCB9 (R616W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401925	NM_019625.4(ABCB9):c.1867G>A (p.Gly623Ser)	ABCB9 (G623S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547915	NM_019625.4(ABCB9):c.1838T>C (p.Val613Ala)	ABCB9 (V550A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294032	NM_019625.4(ABCB9):c.1786A>G (p.Ile596Val)	ABCB9 (I533V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126924	NM_019625.4(ABCB9):c.1780C>T (p.Arg594Cys)	ABCB9 (R531C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493385	NM_019625.4(ABCB9):c.1768G>T (p.Val590Leu)	ABCB9 (V547L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294118	NM_019625.4(ABCB9):c.1720G>A (p.Asp574Asn)	ABCB9 (D574N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543650	NM_019625.4(ABCB9):c.1708A>G (p.Ile570Val)	ABCB9 (I570V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589872	NM_019625.4(ABCB9):c.1685G>A (p.Arg562Gln)	ABCB9 (R499Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333652	NM_019625.4(ABCB9):c.1682G>A (p.Gly561Asp)	ABCB9 (G498D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277546	NM_019625.4(ABCB9):c.1660A>T (p.Asn554Tyr)	ABCB9 (N511Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457136	NM_019625.4(ABCB9):c.1594G>A (p.Gly532Ser)	ABCB9 (G489S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126906	NM_019625.4(ABCB9):c.1589C>G (p.Ser530Cys)	ABCB9 (S467C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126901	NM_019625.4(ABCB9):c.1540C>T (p.Arg514Cys)	ABCB9 (R471C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309269	NM_019625.4(ABCB9):c.1508G>A (p.Arg503Gln)	ABCB9 (R503Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293018	NM_019625.4(ABCB9):c.1481G>C (p.Ser494Thr)	ABCB9 (S494T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520361	NM_019625.4(ABCB9):c.1474G>A (p.Asp492Asn)	ABCB9 (D449N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623953	NM_019625.4(ABCB9):c.1454G>A (p.Arg485Gln)	ABCB9 (R442Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391578	NM_019625.4(ABCB9):c.1399A>G (p.Ser467Gly)	ABCB9 (S467G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620488	NM_019625.4(ABCB9):c.1393G>A (p.Val465Ile)	ABCB9 (V465I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293766	NM_019625.4(ABCB9):c.1339G>A (p.Ala447Thr)	ABCB9 (A447T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126878	NM_019625.4(ABCB9):c.1327G>A (p.Gly443Ser)	ABCB9 (G443S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215347	NM_019625.4(ABCB9):c.1317G>C (p.Gln439His)	ABCB9 (Q439H)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2403181	NM_019625.4(ABCB9):c.1207A>G (p.Arg403Gly)	ABCB9 (R403G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267667	NM_019625.4(ABCB9):c.1091C>T (p.Ala364Val)	ABCB9 (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294298	NM_019625.4(ABCB9):c.1012A>C (p.Ile338Leu)	ABCB9 (I338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478021	NM_019625.4(ABCB9):c.976T>A (p.Trp326Arg)	ABCB9 (W326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467516	NM_019625.4(ABCB9):c.862C>T (p.Arg288Cys)	ABCB9 (R288C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352432	NM_019625.4(ABCB9):c.842G>A (p.Arg281His)	ABCB9 (R281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127014	NM_019625.4(ABCB9):c.828C>A (p.Phe276Leu)	ABCB9 (F276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549194	NM_019625.4(ABCB9):c.808G>A (p.Val270Met)	ABCB9 (V270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127007	NM_019625.4(ABCB9):c.778C>T (p.Arg260Cys)	ABCB9 (R260C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555296	NM_019625.4(ABCB9):c.742G>A (p.Gly248Ser)	ABCB9 (G248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127001	NM_019625.4(ABCB9):c.733A>G (p.Ile245Val)	ABCB9 (I245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382924	NM_019625.4(ABCB9):c.694G>A (p.Val232Met)	ABCB9 (V232M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345844	NM_019625.4(ABCB9):c.688G>A (p.Val230Ile)	ABCB9 (V230I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335321	NM_019625.4(ABCB9):c.631C>G (p.Arg211Gly)	ABCB9 (R211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294263	NM_019625.4(ABCB9):c.565G>A (p.Val189Met)	ABCB9 (V189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294359	NM_019625.4(ABCB9):c.550G>A (p.Asp184Asn)	ABCB9 (D184N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244353	NM_019625.4(ABCB9):c.445C>T (p.Pro149Ser)	ABCB9 (P149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126974	NM_019625.4(ABCB9):c.422G>A (p.Arg141Gln)	ABCB9 (R141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126966	NM_019625.4(ABCB9):c.361G>T (p.Val121Leu)	ABCB9 (V121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318460	NM_019625.4(ABCB9):c.323G>A (p.Arg108His)	ABCB9 (R108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381928	NM_019625.4(ABCB9):c.238C>T (p.Arg80Trp)	ABCB9 (R80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337480	NM_019625.4(ABCB9):c.218C>T (p.Ala73Val)	ABCB9 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294191	NM_019625.4(ABCB9):c.214A>G (p.Ser72Gly)	ABCB9 (S72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268312	NM_019625.4(ABCB9):c.139G>A (p.Val47Met)	ABCB9 (V47M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309120	NM_019625.4(ABCB9):c.116G>A (p.Arg39His)	ABCB9 (R39H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598700	NM_019625.4(ABCB9):c.115C>T (p.Arg39Cys)	ABCB9 (R39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126991	NM_019625.4(ABCB9):c.64A>C (p.Thr22Pro)	ABCB9 (T22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126971	NM_019625.4(ABCB9):c.38T>C (p.Phe13Ser)	ABCB9 (F13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209323	NM_019625.4(ABCB9):c.5G>A (p.Arg2Gln)	ABCB9 (R2Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244956	NM_019625.4(ABCB9):c.4C>T (p.Arg2Trp)	ABCB9 (R2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 1527745	GRCh37/hg19 12q24.31(chr12:122938957-123747037)	ABCB9, ARL6IP4 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 393913	GRCh37/hg19 12q24.31(chr12:123404920-124192840)	ABCB9, ARL6IP4 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 84