ClinVar for Gene (Select 63035) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	ABCD1, ACTRT1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	ABCD1, ACTRT1 +221 more	Copy number loss	not provided	GPathogenic
Select item 3133563	NM_001379451.1(BCORL1):c.871C>A (p.Pro291Thr)	BCORL1 (P291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133562	NM_001379451.1(BCORL1):c.64A>G (p.Met22Val)	BCORL1 (M22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133561	NM_001379451.1(BCORL1):c.5234G>C (p.Arg1745Thr)	BCORL1 (R1671T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133560	NM_001379451.1(BCORL1):c.3998G>A (p.Arg1333Lys)	BCORL1 (R1333K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133559	NM_001379451.1(BCORL1):c.3769G>A (p.Glu1257Lys)	BCORL1 (E1257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133558	NM_001379451.1(BCORL1):c.3001C>A (p.Gln1001Lys)	BCORL1 (Q1001K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133557	NM_001379451.1(BCORL1):c.2899G>A (p.Gly967Ser)	BCORL1 (G967S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133556	NM_001379451.1(BCORL1):c.2851G>A (p.Glu951Lys)	BCORL1 (E951K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133555	NM_001379451.1(BCORL1):c.2647G>A (p.Gly883Arg)	BCORL1 (G883R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133554	NM_001379451.1(BCORL1):c.2227C>T (p.Arg743Cys)	BCORL1 (R743C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133553	NM_001379451.1(BCORL1):c.2152G>A (p.Val718Met)	BCORL1 (V718M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133552	NM_001379451.1(BCORL1):c.197G>A (p.Gly66Glu)	BCORL1 (G66E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133551	NM_001379451.1(BCORL1):c.1772C>G (p.Thr591Arg)	BCORL1 (T591R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133550	NM_001379451.1(BCORL1):c.1597G>T (p.Gly533Cys)	BCORL1 (G533C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064373	NM_001379451.1(BCORL1):c.934C>T (p.Pro312Ser)	BCORL1 (P312S)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3052421	NM_001379451.1(BCORL1):c.591T>C (p.Ser197=)	BCORL1	Single nucleotide variant (synonymous variant)	BCORL1-related condition	GLikely benign
Select item 3047860	NM_001379451.1(BCORL1):c.894G>A (p.Ser298=)	BCORL1	Single nucleotide variant (synonymous variant)	BCORL1-related condition	GLikely benign
Select item 3047703	NM_001379451.1(BCORL1):c.4864C>T (p.Arg1622Trp)	BCORL1 (R1548W +1 more)	Single nucleotide variant (missense variant)	BCORL1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3047289	NM_001379451.1(BCORL1):c.3818G>A (p.Arg1273Gln)	BCORL1 (R1273Q)	Single nucleotide variant (missense variant)	BCORL1-related condition	GLikely benign
Select item 3046534	NM_001379451.1(BCORL1):c.5075+10C>T	BCORL1	Single nucleotide variant (intron variant)	BCORL1-related condition	GLikely benign
Select item 3046222	NM_001379451.1(BCORL1):c.3832C>T (p.Arg1278Cys)	BCORL1 (R1278C)	Single nucleotide variant (missense variant)	BCORL1-related condition	GUncertain significance
Select item 3045074	NM_001379451.1(BCORL1):c.1947C>T (p.Pro649=)	BCORL1	Single nucleotide variant (synonymous variant)	BCORL1-related condition	GLikely benign
Select item 3043618	NM_001379451.1(BCORL1):c.1908G>A (p.Pro636=)	BCORL1	Single nucleotide variant (synonymous variant)	BCORL1-related condition	GLikely benign
Select item 3038720	NM_001379451.1(BCORL1):c.1626T>C (p.Asp542=)	BCORL1	Single nucleotide variant (synonymous variant)	BCORL1-related condition	GLikely benign
Select item 3036952	NM_001379451.1(BCORL1):c.3756AGA[3] (p.Glu1257del)	BCORL1 (E1257del)	Microsatellite (inframe_indel +1 more)	BCORL1-related condition	GLikely benign
Select item 3036747	NM_001379451.1(BCORL1):c.3259G>A (p.Gly1087Arg)	BCORL1 (G1087R)	Single nucleotide variant (missense variant)	BCORL1-related condition	GLikely benign
Select item 3035079	NM_001379451.1(BCORL1):c.2055G>A (p.Ser685=)	BCORL1	Single nucleotide variant (synonymous variant)	BCORL1-related condition	GLikely benign
Select item 3030286	NM_001379451.1(BCORL1):c.933TCC[1] (p.Pro313del)	BCORL1 (P313del)	Microsatellite (inframe deletion +1 more)	BCORL1-related condition	GUncertain significance
Select item 3030054	NM_001379451.1(BCORL1):c.2759A>G (p.Asn920Ser)	BCORL1 (N920S)	Single nucleotide variant (missense variant)	BCORL1-related condition	GLikely benign
Select item 3026856	NM_001379451.1(BCORL1):c.4413G>A (p.Glu1471=)	BCORL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026597	NM_001379451.1(BCORL1):c.4068A>G (p.Lys1356=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026012	NM_001379451.1(BCORL1):c.4001G>C (p.Arg1334Pro)	BCORL1 (R1334P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025500	NM_001379451.1(BCORL1):c.4656C>T (p.His1552=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025499	NM_001379451.1(BCORL1):c.2912C>G (p.Ala971Gly)	BCORL1 (A971G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 2817294	NM_001379451.1(BCORL1):c.697C>T (p.His233Tyr)	BCORL1 (H233Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703144	NM_001379451.1(BCORL1):c.37A>G (p.Asn13Asp)	BCORL1 (N13D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2673259	NM_001379451.1(BCORL1):c.3269G>C (p.Arg1090Pro)	BCORL1 (R1090P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2664786	NM_001379451.1(BCORL1):c.5041C>T (p.Pro1681Ser)	BCORL1 (P1607S +1 more)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2663595	NM_001379451.1(BCORL1):c.4976AAG[1] (p.Glu1660del)	BCORL1 (E1586del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2662963	NM_001379451.1(BCORL1):c.502G>T (p.Val168Phe)	BCORL1 (V168F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662295	NM_001379451.1(BCORL1):c.5294G>T (p.Arg1765Leu)	BCORL1 (R1691L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662228	NM_001379451.1(BCORL1):c.1831A>G (p.Met611Val)	BCORL1 (M611V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662038	NM_001379451.1(BCORL1):c.2821G>A (p.Gly941Ser)	BCORL1 (G941S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661426	NM_001379451.1(BCORL1):c.5007T>C (p.Asp1669=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661425	NM_001379451.1(BCORL1):c.4306-4C>T	BCORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2661424	NM_001379451.1(BCORL1):c.4188A>C (p.Pro1396=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661423	NM_001379451.1(BCORL1):c.4146C>A (p.Asn1382Lys)	BCORL1 (N1382K)	Single nucleotide variant (missense variant)	BCORL1-related condition +1 more	GLikely benign
Select item 2661422	NM_001379451.1(BCORL1):c.4115A>G (p.Gln1372Arg)	BCORL1 (Q1372R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661421	NM_001379451.1(BCORL1):c.3882C>T (p.His1294=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661420	NM_001379451.1(BCORL1):c.3609T>A (p.Gly1203=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661419	NM_001379451.1(BCORL1):c.3570C>T (p.Ser1190=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661418	NM_001379451.1(BCORL1):c.3415G>A (p.Val1139Met)	BCORL1 (V1139M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2661417	NM_001379451.1(BCORL1):c.2664A>G (p.Gln888=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661416	NM_001379451.1(BCORL1):c.2016C>T (p.Ala672=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661415	NM_001379451.1(BCORL1):c.1791C>G (p.Thr597=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661414	NM_001379451.1(BCORL1):c.1092C>T (p.Ser364=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661413	NM_001379451.1(BCORL1):c.1065G>A (p.Val355=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661412	NM_001379451.1(BCORL1):c.912G>A (p.Pro304=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661411	NM_001379451.1(BCORL1):c.429A>T (p.Pro143=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661410	NM_001379451.1(BCORL1):c.387C>T (p.Ser129=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661409	NM_001379451.1(BCORL1):c.214C>T (p.Arg72Trp)	BCORL1 (R72W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2636992	NM_001379451.1(BCORL1):c.4558A>G (p.Ser1520Gly)	BCORL1 (S1446G +1 more)	Single nucleotide variant (missense variant)	BCORL1-related condition	GUncertain significance
Select item 2633175	NM_001379451.1(BCORL1):c.4472T>C (p.Val1491Ala)	BCORL1 (V1491A)	Single nucleotide variant (missense variant +1 more)	BCORL1-related condition	GUncertain significance
Select item 2631805	NM_001379451.1(BCORL1):c.1247G>A (p.Ser416Asn)	BCORL1 (S416N)	Single nucleotide variant (missense variant)	BCORL1-related condition	GUncertain significance
Select item 2629301	NM_001379451.1(BCORL1):c.1889G>T (p.Arg630Leu)	BCORL1 (R630L)	Single nucleotide variant (missense variant)	BCORL1-related condition	GUncertain significance
Select item 2628502	NM_001379451.1(BCORL1):c.3220G>A (p.Ala1074Thr)	BCORL1 (A1074T)	Single nucleotide variant (missense variant)	BCORL1-related condition	GUncertain significance
Select item 2617252	NM_001379451.1(BCORL1):c.5177C>T (p.Pro1726Leu)	BCORL1 (P1726L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616887	NM_001379451.1(BCORL1):c.3286G>A (p.Val1096Ile)	BCORL1 (V1096I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615245	NM_001379451.1(BCORL1):c.784C>G (p.Pro262Ala)	BCORL1 (P262A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2614400	NM_001379451.1(BCORL1):c.313G>A (p.Val105Met)	BCORL1 (V105M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2585396	NM_001379451.1(BCORL1):c.4976A>C (p.Gln1659Pro)	BCORL1 (Q1585P +1 more)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2582337	NM_001379451.1(BCORL1):c.3896G>A (p.Arg1299Gln)	BCORL1 (R1299Q)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2579598	NM_001379451.1(BCORL1):c.5051A>C (p.Asn1684Thr)	BCORL1 (N1610T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572567	NM_001379451.1(BCORL1):c.5101G>A (p.Asp1701Asn)	BCORL1 (D1627N +1 more)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2572302	NM_001379451.1(BCORL1):c.4150C>T (p.Leu1384Phe)	BCORL1 (L1384F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558577	NM_001379451.1(BCORL1):c.2668C>T (p.Arg890Trp)	BCORL1 (R890W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544738	NM_001379451.1(BCORL1):c.2683T>G (p.Phe895Val)	BCORL1 (F895V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527661	NM_001379451.1(BCORL1):c.616C>T (p.Pro206Ser)	BCORL1 (P206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518216	NM_001379451.1(BCORL1):c.871C>G (p.Pro291Ala)	BCORL1 (P291A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511155	NM_001379451.1(BCORL1):c.2339G>A (p.Ser780Asn)	BCORL1 (S780N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507207	NM_001379451.1(BCORL1):c.2684T>C (p.Phe895Ser)	BCORL1 (F895S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2505953	NM_001379451.1(BCORL1):c.97C>G (p.Leu33Val)	BCORL1 (L33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504916	NM_001379451.1(BCORL1):c.106GAG[1] (p.Glu37del)	BCORL1 (E37del)	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2504657	NM_001379451.1(BCORL1):c.28G>A (p.Gly10Ser)	BCORL1 (G10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504339	NM_001379451.1(BCORL1):c.2974T>C (p.Ser992Pro)	BCORL1 (S992P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503266	NM_001379451.1(BCORL1):c.1688C>T (p.Thr563Ile)	BCORL1 (T563I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503182	NM_001379451.1(BCORL1):c.556G>A (p.Glu186Lys)	BCORL1 (E186K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502083	NM_001379451.1(BCORL1):c.1055C>T (p.Pro352Leu)	BCORL1 (P352L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499567	NM_001379451.1(BCORL1):c.4324C>T (p.Gln1442Ter)	BCORL1 (Q1442*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental delay	GPathogenic
Select item 2499383	NM_001379451.1(BCORL1):c.2290G>T (p.Ala764Ser)	BCORL1 (A764S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498380	NM_001379451.1(BCORL1):c.200G>C (p.Ser67Thr)	BCORL1 (S67T)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2486217	NM_001379451.1(BCORL1):c.2025T>A (p.Asn675Lys)	BCORL1 (N675K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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