ABCC10[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 2595383	NM_001198934.2(ABCC10):c.199C>T (p.Arg67Cys)	ABCC10 (R24C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234645	NM_001198934.2(ABCC10):c.281G>T (p.Gly94Val)	ABCC10 (G94V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353930	NM_001198934.2(ABCC10):c.355C>G (p.Leu119Val)	ABCC10 (L119V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236299	NM_001198934.2(ABCC10):c.392G>A (p.Arg131Gln)	ABCC10 (R131Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262597	NM_001198934.2(ABCC10):c.523C>G (p.Leu175Val)	ABCC10 (L175V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337232	NM_001198934.2(ABCC10):c.599C>T (p.Ala200Val)	ABCC10 (A157V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530555	NM_001198934.2(ABCC10):c.607C>G (p.Pro203Ala)	ABCC10 (P160A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392678	NM_001198934.2(ABCC10):c.665C>T (p.Ser222Leu)	ABCC10 (S179L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260737	NM_001198934.2(ABCC10):c.854A>G (p.Tyr285Cys)	ABCC10 (Y242C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388533	NM_001198934.2(ABCC10):c.1042G>A (p.Val348Ile)	ABCC10 (V305I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286323	NM_001198934.2(ABCC10):c.1156A>C (p.Thr386Pro)	ABCC10 (T343P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471310	NM_001198934.2(ABCC10):c.1168C>G (p.Arg390Gly)	ABCC10 (R390G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611197	NM_001198934.2(ABCC10):c.1169G>A (p.Arg390Gln)	ABCC10 (R390Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400853	NM_001198934.2(ABCC10):c.1288G>C (p.Ala430Pro)	ABCC10 (A430P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2525589	NM_001198934.2(ABCC10):c.1328G>A (p.Arg443His)	ABCC10 (R443H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2306059	NM_001198934.2(ABCC10):c.1340G>A (p.Ser447Asn)	ABCC10 (S3N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263339	NM_001198934.2(ABCC10):c.1352T>C (p.Met451Thr)	ABCC10 (M408T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252231	NM_001198934.2(ABCC10):c.1408C>T (p.Arg470Trp)	ABCC10 (R26W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551025	NM_001198934.2(ABCC10):c.1447G>T (p.Ala483Ser)	ABCC10 (A39S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257177	NM_001198934.2(ABCC10):c.1497C>G (p.Ile499Met)	ABCC10 (I456M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385190	NM_001198934.2(ABCC10):c.1511C>T (p.Ala504Val)	ABCC10 (A461V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656598	NM_001198934.2(ABCC10):c.1512G>A (p.Ala504=)	ABCC10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2606598	NM_001198934.2(ABCC10):c.1544T>C (p.Val515Ala)	ABCC10 (V515A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528459	NM_001198934.2(ABCC10):c.1583T>C (p.Met528Thr)	ABCC10 (M84T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240140	NM_001198934.2(ABCC10):c.1589A>G (p.His530Arg)	ABCC10 (H86R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527980	NM_001198934.2(ABCC10):c.1613T>A (p.Phe538Tyr)	ABCC10 (F495Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560719	NM_001198934.2(ABCC10):c.1640T>C (p.Leu547Pro)	ABCC10 (L103P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539449	NM_001198934.2(ABCC10):c.1675A>T (p.Asn559Tyr)	ABCC10 (N559Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246042	NM_001198934.2(ABCC10):c.1726G>A (p.Asp576Asn)	ABCC10 (D576N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320805	NM_001198934.2(ABCC10):c.1745C>T (p.Pro582Leu)	ABCC10 (P138L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311487	NM_001198934.2(ABCC10):c.1822G>A (p.Asp608Asn)	ABCC10 (D608N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382223	NM_001198934.2(ABCC10):c.1888G>C (p.Gly630Arg)	ABCC10 (G186R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588055	NM_001198934.2(ABCC10):c.1994G>C (p.Gly665Ala)	ABCC10 (G221A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556329	NM_001198934.2(ABCC10):c.2114A>G (p.Asn705Ser)	ABCC10 (N705S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235956	NM_001198934.2(ABCC10):c.2140G>A (p.Gly714Arg)	ABCC10 (G714R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535312	NM_001198934.2(ABCC10):c.2147A>G (p.Gln716Arg)	ABCC10 (Q688R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289040	NM_001198934.2(ABCC10):c.2154G>T (p.Glu718Asp)	ABCC10 (E274D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525161	NM_001198934.2(ABCC10):c.2246T>C (p.Leu749Pro)	ABCC10 (L749P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592706	NM_001198934.2(ABCC10):c.2255C>T (p.Pro752Leu)	ABCC10 (P308L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458409	NM_001198934.2(ABCC10):c.2366A>G (p.Glu789Gly)	ABCC10 (E345G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458410	NM_001198934.2(ABCC10):c.2372C>G (p.Ala791Gly)	ABCC10 (A347G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656599	NM_001198934.2(ABCC10):c.2379G>A (p.Ala793=)	ABCC10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2541124	NM_001198934.2(ABCC10):c.2401C>T (p.Arg801Cys)	ABCC10 (R357C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462053	NM_001198934.2(ABCC10):c.2411G>A (p.Arg804Gln)	ABCC10 (R360Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2607683	NM_001198934.2(ABCC10):c.2484G>C (p.Glu828Asp)	ABCC10 (E384D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353115	NM_001198934.2(ABCC10):c.2485T>C (p.Ser829Pro)	ABCC10 (S385P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281090	NM_001198934.2(ABCC10):c.2539C>A (p.Leu847Met)	ABCC10 (L403M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656600	NM_001198934.2(ABCC10):c.2682C>G (p.Leu894=)	ABCC10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2380038	NM_001198934.2(ABCC10):c.2695C>T (p.Arg899Trp)	ABCC10 (R871W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221573	NM_001198934.2(ABCC10):c.2776A>C (p.Thr926Pro)	ABCC10 (T926P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549008	NM_001198934.2(ABCC10):c.2876A>G (p.Asn959Ser)	ABCC10 (N931S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374439	NM_001198934.2(ABCC10):c.2888A>G (p.Asp963Gly)	ABCC10 (D519G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526643	NM_001198934.2(ABCC10):c.2917A>T (p.Thr973Ser)	ABCC10 (T973S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210573	NM_001198934.2(ABCC10):c.3002A>G (p.His1001Arg)	ABCC10 (H1001R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247985	NM_001198934.2(ABCC10):c.3077A>G (p.Asn1026Ser)	ABCC10 (N582S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380772	NM_001198934.2(ABCC10):c.3089C>T (p.Ser1030Phe)	ABCC10 (S586F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545589	NM_001198934.2(ABCC10):c.3170T>A (p.Leu1057Gln)	ABCC10 (L1029Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519048	NM_001198934.2(ABCC10):c.3175G>T (p.Val1059Leu)	ABCC10 (V1031L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398973	NM_001198934.2(ABCC10):c.3175G>A (p.Val1059Met)	ABCC10 (V615M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519049	NM_001198934.2(ABCC10):c.3185C>G (p.Ser1062Cys)	ABCC10 (S1062C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206749	NM_001198934.2(ABCC10):c.3229A>G (p.Met1077Val)	ABCC10 (M1049V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300137	NM_001198934.2(ABCC10):c.3281G>T (p.Arg1094Leu)	ABCC10 (R1094L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203958	NM_001198934.2(ABCC10):c.3368C>T (p.Thr1123Ile)	ABCC10 (T1095I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471932	NM_001198934.2(ABCC10):c.3598G>C (p.Gly1200Arg)	ABCC10 (G756R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531069	NM_001198934.2(ABCC10):c.3633G>C (p.Met1211Ile)	ABCC10 (M1211I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 776127	NM_001198934.2(ABCC10):c.3713C>T (p.Thr1238Ile)	ABCC10 (T1210I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2510412	NM_001198934.2(ABCC10):c.3715G>A (p.Gly1239Ser)	ABCC10 (G1239S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525681	NM_001198934.2(ABCC10):c.3922G>A (p.Gly1308Ser)	ABCC10 (G1280S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458760	NM_001198934.2(ABCC10):c.3925G>A (p.Val1309Met)	ABCC10 (V1309M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592311	NM_001198934.2(ABCC10):c.4007C>G (p.Thr1336Ser)	ABCC10 (T1308S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590305	NM_001198934.2(ABCC10):c.4012C>T (p.Arg1338Trp)	ABCC10 (R894W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525489	NM_001198934.2(ABCC10):c.4103T>C (p.Met1368Thr)	ABCC10 (M1368T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399138	NM_001198934.2(ABCC10):c.4202A>G (p.Lys1401Arg)	ABCC10 (K1401R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547819	NM_001198934.2(ABCC10):c.4271T>C (p.Ile1424Thr)	ABCC10 (I1424T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274172	NM_001198934.2(ABCC10):c.4409C>T (p.Pro1470Leu)	ABCC10 (P1442L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367091	NM_023932.4(DLK2):c.1091C>A (p.Pro364Gln)	DLK2, ABCC10 (P364Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559302	NM_023932.4(DLK2):c.1045T>C (p.Tyr349His)	ABCC10, DLK2 (Y312H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241929	NM_023932.4(DLK2):c.1039C>G (p.Pro347Ala)	DLK2, ABCC10 (P347A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656601	NM_023932.4(DLK2):c.1036G>T (p.Ala346Ser)	ABCC10, DLK2 (A309S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2341986	NM_023932.4(DLK2):c.887G>A (p.Arg296Gln)	DLK2, ABCC10 (R296Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229853	NM_023932.4(DLK2):c.854G>T (p.Gly285Val)	ABCC10, DLK2 (G248V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656602	NM_023932.4(DLK2):c.782A>T (p.Asp261Val)	ABCC10, DLK2 (D224V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2370331	NM_023932.4(DLK2):c.728G>C (p.Gly243Ala)	ABCC10, DLK2 (G206A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355304	NM_023932.4(DLK2):c.595C>G (p.Leu199Val)	DLK2, ABCC10 (L162V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229127	NM_023932.4(DLK2):c.583C>A (p.Arg195Ser)	DLK2, ABCC10 (R158S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302439	NM_023932.4(DLK2):c.389G>A (p.Arg130His)	DLK2, ABCC10 (R124H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	BYSL, ABCC10 +57 more	Duplication	PRPH2-Related Disorders	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	KLHDC3, LRRC73 +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 97