15550[HGNC] - ClinVar - NCBI

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	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 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	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 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 155546	GRCh38/hg38 1q42.2-42.3(chr1:234147274-235184361)x1	ARID4B, COA6 +98 more	Copy number loss	See cases	GUncertain significance
Select item 147069	GRCh38/hg38 1q42.3(chr1:234802578-235914149)x3	ARID4B, B3GALNT2 +75 more	Copy number gain	See cases	GUncertain significance
Select item 2366782	NM_016374.6(ARID4B):c.3772G>A (p.Asp1258Asn)	ARID4B (D1258N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597617	NM_016374.6(ARID4B):c.3691G>A (p.Glu1231Lys)	ARID4B (E1145K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411872	NM_016374.6(ARID4B):c.3677A>G (p.Asn1226Ser)	ARID4B (N1140S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297149	NM_016374.6(ARID4B):c.3629G>A (p.Arg1210Gln)	ARID4B (R1210Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129481	NM_016374.6(ARID4B):c.3591T>G (p.Asn1197Lys)	ARID4B (N1111K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367471	NM_016374.6(ARID4B):c.3566A>G (p.Gln1189Arg)	ARID4B (Q1103R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465965	NM_016374.6(ARID4B):c.3563C>T (p.Thr1188Met)	ARID4B (T1102M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129480	NM_016374.6(ARID4B):c.3556G>A (p.Ala1186Thr)	ARID4B (A1186T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234190	NM_016374.6(ARID4B):c.3545C>T (p.Thr1182Ile)	ARID4B (T1096I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2295545	NM_016374.6(ARID4B):c.3517G>C (p.Val1173Leu)	ARID4B (V1087L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478627	NM_016374.6(ARID4B):c.3490A>G (p.Ile1164Val)	ARID4B (I1164V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2527101	NM_016374.6(ARID4B):c.3478G>A (p.Ala1160Thr)	ARID4B (A1074T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356471	NM_016374.6(ARID4B):c.3419T>G (p.Val1140Gly)	ARID4B (V1054G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224518	NM_016374.6(ARID4B):c.3383C>T (p.Ser1128Leu)	ARID4B (S1128L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129479	NM_016374.6(ARID4B):c.3370G>A (p.Gly1124Arg)	ARID4B (G1038R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487703	NM_016374.6(ARID4B):c.3245A>C (p.Gln1082Pro)	ARID4B (Q1082P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391982	NM_016374.6(ARID4B):c.3185A>G (p.Lys1062Arg)	ARID4B (K976R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129478	NM_016374.6(ARID4B):c.3176G>A (p.Arg1059Gln)	ARID4B (R1059Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129477	NM_016374.6(ARID4B):c.3175C>G (p.Arg1059Gly)	ARID4B (R973G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314742	NM_016374.6(ARID4B):c.3046A>C (p.Ser1016Arg)	ARID4B (S1016R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129476	NM_016374.6(ARID4B):c.2977G>A (p.Asp993Asn)	ARID4B (D907N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314799	NM_016374.6(ARID4B):c.2674A>C (p.Thr892Pro)	ARID4B (T806P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456978	NM_016374.6(ARID4B):c.2657G>A (p.Arg886Lys)	ARID4B (R800K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204747	NM_016374.6(ARID4B):c.2639A>G (p.Asn880Ser)	ARID4B (N880S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381757	NM_016374.6(ARID4B):c.2617A>G (p.Met873Val)	ARID4B (M787V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129475	NM_016374.6(ARID4B):c.2535G>T (p.Lys845Asn)	ARID4B (K759N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370902	NM_016374.6(ARID4B):c.2518G>A (p.Gly840Ser)	ARID4B (G754S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3129474	NM_016374.6(ARID4B):c.2465G>A (p.Arg822His)	ARID4B (R822H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777987	NM_016374.6(ARID4B):c.2421C>T (p.Val807=)	ARID4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2339384	NM_016374.6(ARID4B):c.2377A>G (p.Thr793Ala)	ARID4B (T793A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400355	NM_016374.6(ARID4B):c.2320C>A (p.Pro774Thr)	ARID4B (P688T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287699	NM_016374.6(ARID4B):c.2203G>A (p.Glu735Lys)	ARID4B (E649K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538460	NM_016374.6(ARID4B):c.2123A>C (p.Gln708Pro)	ARID4B (Q622P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594823	NM_016374.6(ARID4B):c.1991G>A (p.Arg664His)	ARID4B (R578H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251425	NM_016374.6(ARID4B):c.1969C>T (p.Pro657Ser)	ARID4B (P571S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129473	NM_016374.6(ARID4B):c.1967C>G (p.Ser656Cys)	ARID4B (S570C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260653	NM_016374.6(ARID4B):c.1940A>G (p.Lys647Arg)	ARID4B (K561R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619630	NM_016374.6(ARID4B):c.1870A>G (p.Ile624Val)	ARID4B (I624V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314779	NM_016374.6(ARID4B):c.1789G>A (p.Val597Ile)	ARID4B (V597I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314773	NM_016374.6(ARID4B):c.1682A>T (p.Asn561Ile)	ARID4B (N561I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 785848	NM_016374.6(ARID4B):c.1647AGA[3] (p.Glu553del)	ARID4B (E553del)	Microsatellite (inframe_deletion +2 more)	not provided	GLikely benign
Select item 3314764	NM_016374.6(ARID4B):c.1617T>A (p.Asp539Glu)	ARID4B (D539E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2334399	NM_016374.6(ARID4B):c.1600G>C (p.Glu534Gln)	ARID4B (E534Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2552560	NM_016374.6(ARID4B):c.1538C>A (p.Ser513Tyr)	ARID4B (S513Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129472	NM_016374.6(ARID4B):c.1490A>G (p.Asn497Ser)	ARID4B (N497S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315582	NM_016374.6(ARID4B):c.1473T>G (p.Ile491Met)	ARID4B (I491M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3129471	NM_016374.6(ARID4B):c.1458A>C (p.Glu486Asp)	ARID4B (E486D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739563	NM_016374.6(ARID4B):c.1419G>A (p.Lys473=)	ARID4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2556134	NM_016374.6(ARID4B):c.1400C>A (p.Pro467His)	ARID4B (P467H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314754	NM_016374.6(ARID4B):c.1363A>T (p.Ile455Phe)	ARID4B (I455F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454391	NM_016374.6(ARID4B):c.1282G>C (p.Val428Leu)	ARID4B (V428L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464794	NM_016374.6(ARID4B):c.1249T>C (p.Cys417Arg)	ARID4B (C417R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129470	NM_016374.6(ARID4B):c.1228G>A (p.Glu410Lys)	ARID4B (E410K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555425	NM_016374.6(ARID4B):c.1209A>C (p.Glu403Asp)	ARID4B (E403D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1339953	NM_016374.6(ARID4B):c.1097_1104dup (p.Leu369fs)	ARID4B (L369fs)	Duplication (frameshift variant +1 more)	not provided	Gnot provided
Select item 3314810	NM_016374.6(ARID4B):c.953A>G (p.Lys318Arg)	ARID4B (K318R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492551	NM_016374.6(ARID4B):c.926G>T (p.Arg309Met)	ARID4B (R309M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264038	NM_016374.6(ARID4B):c.903A>C (p.Glu301Asp)	ARID4B (E301D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614661	NM_016374.6(ARID4B):c.873G>C (p.Lys291Asn)	ARID4B (K291N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291738	NM_016374.6(ARID4B):c.700A>C (p.Thr234Pro)	ARID4B (T234P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314788	NM_016374.6(ARID4B):c.628G>A (p.Asp210Asn)	ARID4B (D210N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591096	NM_016374.6(ARID4B):c.551T>C (p.Leu184Ser)	ARID4B (L184S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486317	NM_016374.6(ARID4B):c.504G>C (p.Gln168His)	ARID4B (Q168H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622241	NM_016374.6(ARID4B):c.247C>G (p.Leu83Val)	ARID4B (L83V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248035	NC_000001.10:g.(?_234338304)_(237995947_?)dup	ACTN2, ARID4B +21 more	Duplication	not provided	GUncertain significance
Select item 3247621	NC_000001.10:g.(?_235275379)_(236899040_?)del	ACTN2, ARID4B +13 more	Deletion	Chédiak-Higashi syndrome	GPathogenic
Select item 3242280	GRCh37/hg19 1q42.2-42.3(chr1:234117880-236536349)x1	ARID4B, B3GALNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	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 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 1809015	GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1	ACTN2, ARID4B +30 more	Copy number loss	not provided	GUncertain significance
Select item 1809009	GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1	ACTN2, ARID4B +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808508	GRCh37/hg19 1q42.3(chr1:235429692-235654624)x4	ARID4B, B3GALNT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	SPRTN, TARBP1 +34 more	Copy number loss	not provided	GPathogenic

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