ClinVar for Gene (Select 283149) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642448	NM_001378213.1(BCL9L):c.1365C>T (p.Pro455=)	BCL9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642447	NM_001378213.1(BCL9L):c.4157G>A (p.Gly1386Glu)	BCL9L (G1349E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2621210	NM_001378213.1(BCL9L):c.3832C>G (p.Gln1278Glu)	BCL9L (Q1278E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614047	NM_001378213.1(BCL9L):c.2558A>G (p.Gln853Arg)	BCL9L (Q816R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611407	NM_001378213.1(BCL9L):c.4227G>C (p.Gln1409His)	BCL9L (Q1409H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610382	NM_001378213.1(BCL9L):c.3955A>G (p.Thr1319Ala)	BCL9L (T1282A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599009	NM_001378213.1(BCL9L):c.4216C>T (p.Pro1406Ser)	BCL9L (P1369S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597162	NM_001378213.1(BCL9L):c.2906C>T (p.Pro969Leu)	BCL9L (P969L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588295	NM_001378213.1(BCL9L):c.2285A>G (p.Asp762Gly)	BCL9L (D725G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562570	NM_001378213.1(BCL9L):c.2561G>A (p.Gly854Glu)	BCL9L (G817E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556992	NM_001378213.1(BCL9L):c.896C>T (p.Pro299Leu)	BCL9L (P299L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555427	NM_001378213.1(BCL9L):c.4171A>G (p.Met1391Val)	BCL9L (M1354V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553968	NM_001378213.1(BCL9L):c.2711C>T (p.Ser904Leu)	BCL9L (S867L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537504	NM_001378213.1(BCL9L):c.3172G>A (p.Ala1058Thr)	BCL9L (A1058T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533959	NM_001378213.1(BCL9L):c.1097C>T (p.Pro366Leu)	BCL9L (P329L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530219	NM_001378213.1(BCL9L):c.659A>T (p.Asp220Val)	BCL9L (D220V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527271	NM_001378213.1(BCL9L):c.2149C>G (p.Gln717Glu)	BCL9L (Q680E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509176	NM_001378213.1(BCL9L):c.2956C>T (p.Arg986Cys)	BCL9L (R949C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495214	NM_001378213.1(BCL9L):c.1013C>T (p.Ser338Leu)	BCL9L (S301L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494798	NM_001378213.1(BCL9L):c.3374C>A (p.Pro1125His)	BCL9L (P1088H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492286	NM_001378213.1(BCL9L):c.4255G>A (p.Gly1419Arg)	BCL9L (G1419R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492217	NM_001378213.1(BCL9L):c.1778G>A (p.Arg593Gln)	BCL9L (R556Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483149	NM_001378213.1(BCL9L):c.3472A>G (p.Met1158Val)	BCL9L (M1121V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480203	NM_001378213.1(BCL9L):c.247A>G (p.Lys83Glu)	BCL9L (K46E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475850	NM_001378213.1(BCL9L):c.3805C>A (p.Gln1269Lys)	BCL9L (Q1232K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465435	NM_001378213.1(BCL9L):c.2237G>A (p.Arg746Gln)	BCL9L (R709Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461387	NM_001378213.1(BCL9L):c.4297T>A (p.Phe1433Ile)	BCL9L (F1396I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461301	NM_001378213.1(BCL9L):c.3380C>A (p.Pro1127Gln)	BCL9L (P1127Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456287	NM_001378213.1(BCL9L):c.94C>A (p.Pro32Thr)	BCL9L (P32T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 2412133	NM_001378213.1(BCL9L):c.2650A>G (p.Thr884Ala)	BCL9L (T847A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412097	NM_001378213.1(BCL9L):c.4477G>A (p.Gly1493Ser)	BCL9L (G1493S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2393146	NM_001378213.1(BCL9L):c.4346C>T (p.Pro1449Leu)	BCL9L (P1412L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389361	NM_001378213.1(BCL9L):c.1864A>G (p.Met622Val)	BCL9L (M622V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386182	NM_001378213.1(BCL9L):c.1285C>G (p.Pro429Ala)	BCL9L (P392A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382868	NM_001378213.1(BCL9L):c.935C>T (p.Pro312Leu)	BCL9L (P275L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368565	NM_001378213.1(BCL9L):c.2290C>T (p.Pro764Ser)	BCL9L (P764S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361837	NM_001378213.1(BCL9L):c.613A>G (p.Ser205Gly)	BCL9L (S168G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361127	NM_001378213.1(BCL9L):c.2878C>A (p.Gln960Lys)	BCL9L (Q923K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360098	NM_001378213.1(BCL9L):c.2254C>T (p.Pro752Ser)	BCL9L (P715S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358657	NM_001378213.1(BCL9L):c.1402C>T (p.Pro468Ser)	BCL9L (P431S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358405	NM_001378213.1(BCL9L):c.3481C>T (p.Pro1161Ser)	BCL9L (P1124S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2357466	NM_001378213.1(BCL9L):c.1342C>T (p.Pro448Ser)	BCL9L (P448S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356336	NM_001378213.1(BCL9L):c.1078A>G (p.Thr360Ala)	BCL9L (T323A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355775	NM_001378213.1(BCL9L):c.200C>T (p.Thr67Ile)	BCL9L (T30I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355177	NM_001378213.1(BCL9L):c.3822G>T (p.Met1274Ile)	BCL9L (M1237I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353945	NM_001378213.1(BCL9L):c.2032C>A (p.Leu678Met)	BCL9L (L641M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350637	NM_001378213.1(BCL9L):c.1403C>T (p.Pro468Leu)	BCL9L (P431L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348884	NM_001378213.1(BCL9L):c.673G>A (p.Gly225Arg)	BCL9L (G188R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346237	NM_001378213.1(BCL9L):c.717C>G (p.Phe239Leu)	BCL9L (F239L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340406	NM_001378213.1(BCL9L):c.338G>A (p.Arg113Lys)	BCL9L (R113K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337734	NM_001378213.1(BCL9L):c.2189G>A (p.Gly730Asp)	BCL9L (G730D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315006	NM_001378213.1(BCL9L):c.1829G>A (p.Arg610Gln)	BCL9L (R573Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304616	NM_001378213.1(BCL9L):c.1702C>T (p.Pro568Ser)	BCL9L (P531S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303325	NM_001378213.1(BCL9L):c.2257A>G (p.Met753Val)	BCL9L (M753V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300702	NM_001378213.1(BCL9L):c.3767C>T (p.Pro1256Leu)	BCL9L (P1256L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298376	NM_001378213.1(BCL9L):c.1894C>A (p.Pro632Thr)	BCL9L (P595T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297152	NM_001378213.1(BCL9L):c.2458G>T (p.Val820Phe)	BCL9L (V820F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291741	NM_001378213.1(BCL9L):c.3025G>T (p.Ala1009Ser)	BCL9L (A1009S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290816	NM_001378213.1(BCL9L):c.4357C>T (p.Leu1453Phe)	BCL9L (L1416F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287154	NM_001378213.1(BCL9L):c.3893T>C (p.Leu1298Pro)	BCL9L (L1261P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286627	NM_001378213.1(BCL9L):c.3914T>C (p.Leu1305Pro)	BCL9L (L1268P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284455	NM_001378213.1(BCL9L):c.560C>T (p.Ala187Val)	BCL9L (A187V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275459	NM_001378213.1(BCL9L):c.2053G>C (p.Glu685Gln)	BCL9L (E648Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273402	NM_001378213.1(BCL9L):c.4019A>G (p.Gln1340Arg)	BCL9L (Q1340R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269864	NM_001378213.1(BCL9L):c.1838G>T (p.Gly613Val)	BCL9L (G613V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268997	NM_001378213.1(BCL9L):c.4405A>C (p.Met1469Leu)	BCL9L (M1432L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268678	NM_001378213.1(BCL9L):c.3854T>C (p.Met1285Thr)	BCL9L (M1248T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258898	NM_001378213.1(BCL9L):c.3412A>G (p.Ser1138Gly)	BCL9L (S1101G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243197	NM_001378213.1(BCL9L):c.872T>G (p.Leu291Arg)	BCL9L (L254R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242574	NM_001378213.1(BCL9L):c.3038C>T (p.Thr1013Met)	BCL9L (T1013M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226094	NM_001378213.1(BCL9L):c.2824T>A (p.Ser942Thr)	BCL9L (S905T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224988	NM_001378213.1(BCL9L):c.16A>T (p.Asn6Tyr)	BCL9L (N6Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222762	NM_001378213.1(BCL9L):c.3736G>C (p.Gly1246Arg)	BCL9L (G1209R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219690	NM_001378213.1(BCL9L):c.4423C>T (p.Arg1475Trp)	BCL9L (R1438W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218495	NM_001378213.1(BCL9L):c.2744C>T (p.Ser915Leu)	BCL9L (S915L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209046	NM_001378213.1(BCL9L):c.2587A>G (p.Met863Val)	BCL9L (M826V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	ATP5MG, SCN4B +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1007237	NC_000011.9:g.(?_117856768)_(118972385_?)dup	ARCN1, ATP5MG +31 more	Duplication	Immunodeficiency 18 +4 more	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831101	NC_000011.9:g.(?_117856768)_(118972385_?)del	H2AX, DDX6 +31 more	Deletion	Inflammatory bowel disease 28 +3 more	GPathogenic
Select item 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	VPS11, ABCG4 +33 more	Copy number gain	not provided	GUncertain significance
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 781048	NM_001378213.1(BCL9L):c.4321G>A (p.Val1441Met)	BCL9L (V1441M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 779377	NM_001378213.1(BCL9L):c.2370G>A (p.Pro790=)	BCL9L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779376	NM_001378213.1(BCL9L):c.4365G>A (p.Pro1455=)	BCL9L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 741786	NM_001378213.1(BCL9L):c.3378C>A (p.Pro1126=)	BCL9L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 736993	NM_001378213.1(BCL9L):c.1311A>T (p.Gly437=)	BCL9L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731760	NM_001378213.1(BCL9L):c.4035C>T (p.Ser1345=)	BCL9L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 725608	NM_001378213.1(BCL9L):c.2434C>T (p.Leu812Phe)	BCL9L (L812F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714057	NM_001378213.1(BCL9L):c.768G>A (p.Leu256=)	BCL9L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	SLC37A4, TMEM25 +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic

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