ABCB10[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 3119397	NM_012089.3(ABCB10):c.2173A>G (p.Ile725Val)	ABCB10 (I725V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467284	NM_012089.3(ABCB10):c.2143C>G (p.His715Asp)	ABCB10 (H715D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473489	NM_012089.3(ABCB10):c.2051C>T (p.Thr684Met)	ABCB10 (T684M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119290	NM_012089.3(ABCB10):c.2029G>A (p.Asp677Asn)	ABCB10 (D677N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334746	NM_012089.3(ABCB10):c.1849C>T (p.Arg617Trp)	ABCB10 (R617W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392096	NM_012089.3(ABCB10):c.1832A>G (p.Asn611Ser)	ABCB10 (N611S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767760	NM_012089.3(ABCB10):c.1646-24TTCCT[2]	ABCB10	Microsatellite (intron variant)	not provided	GBenign
Select item 2640063	NM_012089.3(ABCB10):c.1554G>A (p.Pro518=)	ABCB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2356905	NM_012089.3(ABCB10):c.1549A>G (p.Ile517Val)	ABCB10 (I517V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119150	NM_012089.3(ABCB10):c.1519G>A (p.Val507Met)	ABCB10 (V507M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286808	NM_012089.3(ABCB10):c.1508C>A (p.Ala503Asp)	ABCB10 (A503D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289628	NM_012089.3(ABCB10):c.1441G>T (p.Val481Phe)	ABCB10 (V481F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732920	NM_012089.3(ABCB10):c.1434C>A (p.Asn478Lys)	ABCB10 (N478K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3289532	NM_012089.3(ABCB10):c.1382C>T (p.Ala461Val)	ABCB10 (A461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119092	NM_012089.3(ABCB10):c.1358C>T (p.Ser453Leu)	ABCB10 (S453L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119056	NM_012089.3(ABCB10):c.1282G>A (p.Val428Met)	ABCB10 (V428M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613793	NM_012089.3(ABCB10):c.1216G>A (p.Gly406Arg)	ABCB10 (G406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322350	NM_012089.3(ABCB10):c.1183C>T (p.Arg395Trp)	ABCB10 (R395W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462287	NM_012089.3(ABCB10):c.1163C>G (p.Ala388Gly)	ABCB10 (A388G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315322	NM_012089.3(ABCB10):c.1146C>A (p.Asp382Glu)	ABCB10 (D382E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217527	NM_012089.3(ABCB10):c.1010G>A (p.Arg337Gln)	ABCB10 (R337Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396977	NM_012089.3(ABCB10):c.1001G>A (p.Arg334Gln)	ABCB10 (R334Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119895	NM_012089.3(ABCB10):c.983T>C (p.Ile328Thr)	ABCB10 (I328T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289819	NM_012089.3(ABCB10):c.967C>T (p.Pro323Ser)	ABCB10 (P323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119865	NM_012089.3(ABCB10):c.965T>C (p.Val322Ala)	ABCB10 (V322A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287044	NM_012089.3(ABCB10):c.910A>C (p.Ile304Leu)	ABCB10 (I304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589138	NM_012089.3(ABCB10):c.835A>T (p.Thr279Ser)	ABCB10 (T279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544098	NM_012089.3(ABCB10):c.785T>G (p.Phe262Cys)	ABCB10 (F262C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289251	NM_012089.3(ABCB10):c.725G>A (p.Arg242His)	ABCB10 (R242H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597322	NM_012089.3(ABCB10):c.724C>T (p.Arg242Cys)	ABCB10 (R242C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405119	NM_012089.3(ABCB10):c.652C>T (p.Leu218Phe)	ABCB10 (L218F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389009	NM_012089.3(ABCB10):c.605A>G (p.Asn202Ser)	ABCB10 (N202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289340	NM_012089.3(ABCB10):c.544A>G (p.Ser182Gly)	ABCB10 (S182G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791841	NM_012089.3(ABCB10):c.537G>A (p.Thr179=)	ABCB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2215038	NM_012089.3(ABCB10):c.433G>A (p.Gly145Arg)	ABCB10, LOC129932734 (G145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289440	NM_012089.3(ABCB10):c.425G>A (p.Gly142Glu)	ABCB10, LOC129932734 (G142E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391917	NM_012089.3(ABCB10):c.424G>C (p.Gly142Arg)	ABCB10, LOC129932734 (G142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292784	NM_012089.3(ABCB10):c.407G>A (p.Gly136Glu)	ABCB10, LOC129932734 (G136E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494000	NM_012089.3(ABCB10):c.361G>A (p.Gly121Ser)	ABCB10, LOC129932734 (G121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262091	NM_012089.3(ABCB10):c.328G>C (p.Ala110Pro)	ABCB10, LOC129932734 (A110P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551078	NM_012089.3(ABCB10):c.303G>C (p.Arg101Ser)	ABCB10, LOC129932734 (R101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119448	NM_012089.3(ABCB10):c.284G>A (p.Arg95His)	ABCB10 (R95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222923	NM_012089.3(ABCB10):c.257T>G (p.Leu86Arg)	ABCB10 (L86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361236	NM_012089.3(ABCB10):c.204G>C (p.Trp68Cys)	ABCB10, LOC129932735 (W68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289949	NM_012089.3(ABCB10):c.184G>T (p.Val62Phe)	ABCB10, LOC129932735 (V62F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542039	NM_012089.3(ABCB10):c.152T>G (p.Leu51Arg)	ABCB10, LOC129932735 (L51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289898	NM_012089.3(ABCB10):c.148C>G (p.Arg50Gly)	ABCB10, LOC129932735 (R50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344548	NM_012089.3(ABCB10):c.110C>G (p.Pro37Arg)	ABCB10, LOC129932735 (P37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119710	NM_012089.3(ABCB10):c.61G>A (p.Gly21Ser)	ABCB10, LOC129932735 (G21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226264	NM_012089.3(ABCB10):c.41C>G (p.Pro14Arg)	ABCB10, LOC129932735 (P14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289721	NM_012089.3(ABCB10):c.29G>C (p.Arg10Pro)	ABCB10, LOC129932735 (R10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119473	NM_012089.3(ABCB10):c.29G>T (p.Arg10Leu)	ABCB10, LOC129932735 (R10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062877	GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1	CCSAP, ABCB10 +21 more	Copy number loss	not specified	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2425915	NC_000001.10:g.(?_229567246)_(231413288_?)del	ABCB10, ACTA1 +15 more	Deletion	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1411795	NC_000001.10:g.(?_229567246)_(232172577_?)dup	ABCB10, ACTA1 +21 more	Duplication	Actin accumulation myopathy	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253906	GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	GJC2, TRIM17 +31 more	Copy number loss	See cases	GUncertain significance

ClinVar

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Items: 90