52[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +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 3127249	NM_001198934.2(ABCC10):c.162G>C (p.Arg54Ser)	ABCC10 (R11S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595383	NM_001198934.2(ABCC10):c.199C>T (p.Arg67Cys)	ABCC10 (R24C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127325	NM_001198934.2(ABCC10):c.277G>T (p.Ala93Ser)	ABCC10 (A50S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3127383	NM_001198934.2(ABCC10):c.341G>A (p.Ser114Asn)	ABCC10 (S114N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3295266	NM_001198934.2(ABCC10):c.361G>T (p.Val121Leu)	ABCC10 (V121L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3127469	NM_001198934.2(ABCC10):c.688G>C (p.Ala230Pro)	ABCC10 (A187P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295652	NM_001198934.2(ABCC10):c.784G>T (p.Val262Phe)	ABCC10 (V262F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3127478	NM_001198934.2(ABCC10):c.880G>A (p.Val294Met)	ABCC10 (V251M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3296013	NM_001198934.2(ABCC10):c.1675A>G (p.Asn559Asp)	ABCC10 (N115D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3127270	NM_001198934.2(ABCC10):c.2143G>T (p.Asp715Tyr)	ABCC10 (D687Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3127311	NM_001198934.2(ABCC10):c.2537G>A (p.Gly846Glu)	ABCC10 (G846E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3295042	NM_001198934.2(ABCC10):c.2557A>C (p.Thr853Pro)	ABCC10 (T409P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127317	NM_001198934.2(ABCC10):c.2602G>A (p.Val868Met)	ABCC10 (V424M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3127329	NM_001198934.2(ABCC10):c.2793G>C (p.Met931Ile)	ABCC10 (M487I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549008	NM_001198934.2(ABCC10):c.2876A>G (p.Asn959Ser)	ABCC10 (N931S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374439	NM_001198934.2(ABCC10):c.2888A>G (p.Asp963Gly)	ABCC10 (D519G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526643	NM_001198934.2(ABCC10):c.2917A>T (p.Thr973Ser)	ABCC10 (T973S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127342	NM_001198934.2(ABCC10):c.2920A>G (p.Ile974Val)	ABCC10 (I530V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210573	NM_001198934.2(ABCC10):c.3002A>G (p.His1001Arg)	ABCC10 (H1001R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295815	NM_001198934.2(ABCC10):c.3067C>T (p.Arg1023Trp)	ABCC10 (R1023W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3127370	NM_001198934.2(ABCC10):c.3277C>T (p.Arg1093Trp)	ABCC10 (R1093W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3127378	NM_001198934.2(ABCC10):c.3353G>A (p.Arg1118Gln)	ABCC10 (R674Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295909	NM_001198934.2(ABCC10):c.3355G>A (p.Ala1119Thr)	ABCC10 (A1119T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3127389	NM_001198934.2(ABCC10):c.3445C>A (p.Gln1149Lys)	ABCC10 (Q1149K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127391	NM_001198934.2(ABCC10):c.3493G>A (p.Ala1165Thr)	ABCC10 (A1165T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295463	NM_001198934.2(ABCC10):c.3502G>C (p.Gly1168Arg)	ABCC10 (G1168R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127398	NM_001198934.2(ABCC10):c.3596C>T (p.Ser1199Leu)	ABCC10 (S1199L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3127412	NM_001198934.2(ABCC10):c.3646G>A (p.Glu1216Lys)	ABCC10 (E1216K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127414	NM_001198934.2(ABCC10):c.3704A>G (p.Gln1235Arg)	ABCC10 (Q1207R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3295070	NM_001198934.2(ABCC10):c.3730G>T (p.Gly1244Trp)	ABCC10 (G1216W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295096	NM_001198934.2(ABCC10):c.3841C>T (p.Arg1281Cys)	ABCC10 (R1253C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127418	NM_001198934.2(ABCC10):c.3908G>A (p.Arg1303Gln)	ABCC10 (R1275Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance

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