"GeneDx"[submitter] AND "BCORL1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 131

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58669	GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2	AIFM1, APLN +127 more	Copy number gain	See cases	GPathogenic
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 2446520	NM_001379451.1(BCORL1):c.64A>C (p.Met22Leu)	BCORL1 (M22L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1313962	NM_001379451.1(BCORL1):c.103G>A (p.Asp35Asn)	BCORL1 (D35N)	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 978174	NM_001379451.1(BCORL1):c.164G>A (p.Ser55Asn)	BCORL1 (S55N)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance
Select item 420626	NM_001379451.1(BCORL1):c.220del (p.Ala74fs)	BCORL1 (A74fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3253241	NM_001379451.1(BCORL1):c.230A>T (p.Asp77Val)	BCORL1 (D77V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442536	NM_001379451.1(BCORL1):c.309_311del (p.Asn104del)	BCORL1 (N104del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3373111	NM_001379451.1(BCORL1):c.310A>C (p.Asn104His)	BCORL1 (N104H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703956	NM_001379451.1(BCORL1):c.341C>A (p.Pro114His)	BCORL1 (P114H)	Single nucleotide variant (missense variant)	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 1306257	NM_001379451.1(BCORL1):c.508G>A (p.Glu170Lys)	BCORL1 (E170K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 674308	NM_001379451.1(BCORL1):c.516T>C (p.Asn172=)	BCORL1	Single nucleotide variant (synonymous variant)	Shukla-Vernon syndrome +1 more	GBenign/Likely benign
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 3370908	NM_001379451.1(BCORL1):c.574G>T (p.Val192Phe)	BCORL1 (V192F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429347	NM_001379451.1(BCORL1):c.605C>G (p.Pro202Arg)	BCORL1 (P202R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279188	NM_001379451.1(BCORL1):c.625G>A (p.Gly209Ser)	BCORL1 (G209S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1312798	NM_001379451.1(BCORL1):c.643C>T (p.His215Tyr)	BCORL1 (H215Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1800939	NM_001379451.1(BCORL1):c.712C>T (p.Pro238Ser)	BCORL1 (P238S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388023	NM_001379451.1(BCORL1):c.784C>T (p.Pro262Ser)	BCORL1 (P262S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429493	NM_001379451.1(BCORL1):c.878G>T (p.Gly293Val)	BCORL1 (G293V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451022	NM_001379451.1(BCORL1):c.902C>G (p.Ala301Gly)	BCORL1 (A301G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363232	NM_001379451.1(BCORL1):c.968C>T (p.Pro323Leu)	BCORL1 (P323L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432810	NM_001379451.1(BCORL1):c.985G>C (p.Val329Leu)	BCORL1 (V329L)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome +1 more	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 1700799	NM_001379451.1(BCORL1):c.1130C>A (p.Ala377Asp)	BCORL1 (A377D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1303228	NM_001379451.1(BCORL1):c.1132C>T (p.Pro378Ser)	BCORL1 (P378S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700473	NM_001379451.1(BCORL1):c.1180C>T (p.Pro394Ser)	BCORL1 (P394S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310671	NM_001379451.1(BCORL1):c.1288A>G (p.Met430Val)	BCORL1 (M430V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1697062	NM_001379451.1(BCORL1):c.1348G>T (p.Val450Leu)	BCORL1 (V450L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696987	NM_001379451.1(BCORL1):c.1386T>A (p.Ser462Arg)	BCORL1 (S462R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806535	NM_001379451.1(BCORL1):c.1438G>A (p.Val480Ile)	BCORL1 (V480I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383470	NM_001379451.1(BCORL1):c.1487C>T (p.Ser496Phe)	BCORL1 (S496F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389767	NM_001379451.1(BCORL1):c.1495C>T (p.Leu499Phe)	BCORL1 (L499F)	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 1328770	NM_001379451.1(BCORL1):c.1756G>A (p.Gly586Ser)	BCORL1 (G586S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696979	NM_001379451.1(BCORL1):c.1762G>C (p.Glu588Gln)	BCORL1 (E588Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364750	NM_001379451.1(BCORL1):c.1768C>A (p.Gln590Lys)	BCORL1 (Q590K)	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 1801966	NM_001379451.1(BCORL1):c.1833G>A (p.Met611Ile)	BCORL1 (M611I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700855	NM_001379451.1(BCORL1):c.1858A>T (p.Met620Leu)	BCORL1 (M620L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712578	NM_001379451.1(BCORL1):c.1889G>C (p.Arg630Pro)	BCORL1 (R630P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329657	NM_001379451.1(BCORL1):c.1987T>G (p.Ser663Ala)	BCORL1 (S663A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302888	NM_001379451.1(BCORL1):c.2079C>G (p.Ile693Met)	BCORL1 (I693M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389843	NM_001379451.1(BCORL1):c.2112G>T (p.Lys704Asn)	BCORL1 (K704N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702786	NM_001379451.1(BCORL1):c.2174C>T (p.Pro725Leu)	BCORL1 (P725L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702664	NM_001379451.1(BCORL1):c.2174C>G (p.Pro725Arg)	BCORL1 (P725R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878680	NM_001379451.1(BCORL1):c.2180C>G (p.Ser727Cys)	BCORL1 (S727C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429494	NM_001379451.1(BCORL1):c.2202dup (p.Asn735fs)	BCORL1 (N735fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3368643	NM_001379451.1(BCORL1):c.2224C>T (p.Pro742Ser)	BCORL1 (P742S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343079	NM_001379451.1(BCORL1):c.2231A>G (p.His744Arg)	BCORL1 (H744R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386690	NM_001379451.1(BCORL1):c.2245G>A (p.Glu749Lys)	BCORL1 (E749K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 638168	NM_001379451.1(BCORL1):c.2345T>A (p.Val782Glu)	BCORL1 (V782E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314325	NM_001379451.1(BCORL1):c.2428C>T (p.Pro810Ser)	BCORL1 (P810S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430884	NM_001379451.1(BCORL1):c.2437A>G (p.Ile813Val)	BCORL1 (I813V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387736	NM_001379451.1(BCORL1):c.2447G>A (p.Arg816Gln)	BCORL1 (R816Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308177	NM_001379451.1(BCORL1):c.2497T>C (p.Trp833Arg)	BCORL1 (W833R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307157	NM_001379451.1(BCORL1):c.2524C>T (p.Leu842Phe)	BCORL1 (L842F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 279699	NM_001379451.1(BCORL1):c.2669G>A (p.Arg890Gln)	BCORL1 (R890Q)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome +1 more	GConflicting classifications of pathogenicity
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 2662038	NM_001379451.1(BCORL1):c.2821G>A (p.Gly941Ser)	BCORL1 (G941S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384972	NM_001379451.1(BCORL1):c.2863A>C (p.Ser955Arg)	BCORL1 (S955R)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome +1 more	GUncertain significance
Select item 387379	NM_001379451.1(BCORL1):c.2903C>T (p.Pro968Leu)	BCORL1 (P968L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253088	NM_001379451.1(BCORL1):c.2939C>T (p.Thr980Met)	BCORL1 (T980M)	Single nucleotide variant (missense variant)	not provided +1 more	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 2412879	NM_001379451.1(BCORL1):c.3017T>C (p.Met1006Thr)	BCORL1 (M1006T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700751	NM_001379451.1(BCORL1):c.3145G>A (p.Val1049Met)	BCORL1 (V1049M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266594	NM_001379451.1(BCORL1):c.3189C>T (p.Ala1063=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1704123	NM_001379451.1(BCORL1):c.3227A>G (p.Gln1076Arg)	BCORL1 (Q1076R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3371134	NM_001379451.1(BCORL1):c.3266C>T (p.Ala1089Val)	BCORL1 (A1089V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203536	NM_001379451.1(BCORL1):c.3359A>G (p.Lys1120Arg)	BCORL1 (K1120R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1286982	NM_001379451.1(BCORL1):c.3396C>G (p.Leu1132=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1698257	NM_001379451.1(BCORL1):c.3449A>G (p.Lys1150Arg)	BCORL1 (K1150R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707090	NM_001379451.1(BCORL1):c.3479A>G (p.Lys1160Arg)	BCORL1 (K1160R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488974	NM_001379451.1(BCORL1):c.3586C>T (p.Arg1196Ter)	BCORL1 (R1196*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 386901	NM_001379451.1(BCORL1):c.3593A>C (p.Asp1198Ala)	BCORL1 (D1198A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174079	NM_001379451.1(BCORL1):c.3601G>C (p.Glu1201Gln)	BCORL1 (E1201Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442544	NM_001379451.1(BCORL1):c.3625G>A (p.Ala1209Thr)	BCORL1 (A1209T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702838	NM_001379451.1(BCORL1):c.3689-1G>A	BCORL1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3371332	NM_001379451.1(BCORL1):c.3692G>A (p.Ser1231Asn)	BCORL1 (S1231N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430552	NM_001379451.1(BCORL1):c.3872G>A (p.Gly1291Asp)	BCORL1 (G1291D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331165	NM_001379451.1(BCORL1):c.3928C>G (p.Gln1310Glu)	BCORL1 (Q1310E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367913	NM_001379451.1(BCORL1):c.3995G>A (p.Arg1332Gln)	BCORL1 (R1332Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309412	NM_001379451.1(BCORL1):c.4001G>A (p.Arg1334Gln)	BCORL1 (R1334Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3252276	NM_001379451.1(BCORL1):c.4025C>G (p.Thr1342Ser)	BCORL1 (T1342S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430966	NM_001379451.1(BCORL1):c.4070G>C (p.Gly1357Ala)	BCORL1 (G1357A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379326	NM_001379451.1(BCORL1):c.4129C>T (p.Arg1377Cys)	BCORL1 (R1377C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3363763	NM_001379451.1(BCORL1):c.4378T>C (p.Cys1460Arg)	BCORL1 (C1460R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700448	NM_001379451.1(BCORL1):c.4529A>T (p.Asp1510Val)	BCORL1 (D1436V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363388	NM_001379451.1(BCORL1):c.4609G>C (p.Ala1537Pro)	BCORL1 (A1463P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370579	NM_001379451.1(BCORL1):c.4649T>C (p.Leu1550Pro)	BCORL1 (L1476P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376114	NM_001379451.1(BCORL1):c.4671C>A (p.Asn1557Lys)	BCORL1 (N1483K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252540	NM_001379451.1(BCORL1):c.4727T>C (p.Leu1576Pro)	BCORL1 (L1502P +1 more)	Single nucleotide variant (missense variant)	not provided	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

<< First< Prev

Page of 2