ClinVar for Gene (Select 63035) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379375	NM_001379451.1(BCORL1):c.3305A>G (p.Lys1102Arg)	BCORL1 (K1102R)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 3376408	NM_001379451.1(BCORL1):c.*74C>A	BCORL1	Single nucleotide variant (3 prime UTR variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 3376390	NM_001379451.1(BCORL1):c.4315C>T (p.Arg1439Cys)	BCORL1 (R1439C)	Single nucleotide variant (missense variant +1 more)	Shukla-Vernon syndrome	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 3373111	NM_001379451.1(BCORL1):c.310A>C (p.Asn104His)	BCORL1 (N104H)	Single nucleotide variant (missense 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 3371134	NM_001379451.1(BCORL1):c.3266C>T (p.Ala1089Val)	BCORL1 (A1089V)	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 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 3370382	GRCh38/hg38 Xq25-26.1(chrX:128513670-130118616)x2	APLN, BCORL1 +57 more	Copy number gain	Intellectual disability	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 3367913	NM_001379451.1(BCORL1):c.3995G>A (p.Arg1332Gln)	BCORL1 (R1332Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3366393	NC_000023.10:g.(129162837_129171341)_(129192047_?)dup	BCORL1	Duplication	not specified	GUncertain significance
Select item 3366367	NM_001379451.1(BCORL1):c.4219C>A (p.Pro1407Thr)	BCORL1 (P1407T)	Single nucleotide variant (missense variant)	not specified	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 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 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 3363232	NM_001379451.1(BCORL1):c.968C>T (p.Pro323Leu)	BCORL1 (P323L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361826	NM_001379451.1(BCORL1):c.4760C>G (p.Ala1587Gly)	BCORL1 (A1513G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360946	NM_001379451.1(BCORL1):c.3551A>G (p.Lys1184Arg)	BCORL1 (K1184R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360808	NM_001379451.1(BCORL1):c.1652C>T (p.Thr551Ile)	BCORL1 (T551I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360426	NM_001379451.1(BCORL1):c.229G>A (p.Asp77Asn)	BCORL1 (D77N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360364	NM_001379451.1(BCORL1):c.4575C>A (p.His1525Gln)	BCORL1 (H1451Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360251	NM_001379451.1(BCORL1):c.3641G>A (p.Arg1214His)	BCORL1 (R1214H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360030	NM_001379451.1(BCORL1):c.4995G>A (p.Met1665Ile)	BCORL1 (M1591I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359845	NM_001379451.1(BCORL1):c.4574A>G (p.His1525Arg)	BCORL1 (H1451R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351841	NM_001379451.1(BCORL1):c.2074G>A (p.Glu692Lys)	BCORL1 (E692K)	Single nucleotide variant (missense variant)	BCORL1-related disorder	GUncertain significance
Select item 3349737	NM_001379451.1(BCORL1):c.3515A>C (p.Glu1172Ala)	BCORL1 (E1172A)	Single nucleotide variant (missense variant)	BCORL1-related disorder	GUncertain significance
Select item 3346831	NM_001379451.1(BCORL1):c.1614G>C (p.Gln538His)	BCORL1 (Q538H)	Single nucleotide variant (missense variant)	BCORL1-related disorder	GUncertain significance
Select item 3344932	NM_001379451.1(BCORL1):c.1418C>T (p.Ser473Phe)	BCORL1 (S473F)	Single nucleotide variant (missense variant)	BCORL1-related disorder	GUncertain significance
Select item 3344592	NM_001379451.1(BCORL1):c.2514G>T (p.Gln838His)	BCORL1 (Q838H)	Single nucleotide variant (missense variant)	BCORL1-related disorder	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 3341996	NM_001379451.1(BCORL1):c.993T>A (p.Ala331=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3338521	NM_001379451.1(BCORL1):c.3129G>A (p.Gln1043=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3337850	NM_001379451.1(BCORL1):c.5236C>T (p.Pro1746Ser)	BCORL1 (P1672S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337849	NM_001379451.1(BCORL1):c.2576C>T (p.Pro859Leu)	BCORL1 (P859L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3260717	NM_001379451.1(BCORL1):c.2366G>A (p.Arg789His)	BCORL1 (R789H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260716	NM_001379451.1(BCORL1):c.4530T>A (p.Asp1510Glu)	BCORL1 (D1436E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257345	NM_001379451.1(BCORL1):c.5030A>G (p.Lys1677Arg)	BCORL1 (K1603R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3255152	NM_001379451.1(BCORL1):c.1825C>T (p.Arg609Ter)	BCORL1 (R609*)	Single nucleotide variant (nonsense)	Shukla-Vernon syndrome	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 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 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 3252276	NM_001379451.1(BCORL1):c.4025C>G (p.Thr1342Ser)	BCORL1 (T1342S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251177	NM_001379451.1(BCORL1):c.2257A>G (p.Ile753Val)	BCORL1 (I753V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251154	NM_001379451.1(BCORL1):c.1789A>G (p.Thr597Ala)	BCORL1 (T597A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250709	NM_001379451.1(BCORL1):c.312C>T (p.Asn104=)	BCORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242169	NM_001379451.1(BCORL1):c.629C>T (p.Ser210Leu)	BCORL1 (S210L)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 3235262	NM_001379451.1(BCORL1):c.1943C>T (p.Thr648Ile)	BCORL1 (T648I)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +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 disorder	GLikely benign
Select item 3047860	NM_001379451.1(BCORL1):c.894G>A (p.Ser298=)	BCORL1	Single nucleotide variant (synonymous variant)	BCORL1-related disorder	GLikely benign
Select item 3047703	NM_001379451.1(BCORL1):c.4864C>T (p.Arg1622Trp)	BCORL1 (R1548W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047289	NM_001379451.1(BCORL1):c.3818G>A (p.Arg1273Gln)	BCORL1 (R1273Q)	Single nucleotide variant (missense variant)	BCORL1-related disorder	GLikely benign
Select item 3046534	NM_001379451.1(BCORL1):c.5075+10C>T	BCORL1	Single nucleotide variant (intron variant)	BCORL1-related disorder	GLikely benign
Select item 3046222	NM_001379451.1(BCORL1):c.3832C>T (p.Arg1278Cys)	BCORL1 (R1278C)	Single nucleotide variant (missense variant)	BCORL1-related disorder	GUncertain significance
Select item 3045074	NM_001379451.1(BCORL1):c.1947C>T (p.Pro649=)	BCORL1	Single nucleotide variant (synonymous variant)	BCORL1-related disorder	GLikely benign
Select item 3043618	NM_001379451.1(BCORL1):c.1908G>A (p.Pro636=)	BCORL1	Single nucleotide variant (synonymous variant)	BCORL1-related disorder	GLikely benign
Select item 3038720	NM_001379451.1(BCORL1):c.1626T>C (p.Asp542=)	BCORL1	Single nucleotide variant (synonymous variant)	BCORL1-related disorder	GLikely benign
Select item 3036952	NM_001379451.1(BCORL1):c.3756AGA[3] (p.Glu1257del)	BCORL1 (E1257del)	Microsatellite (inframe_indel)	BCORL1-related disorder	GLikely benign
Select item 3036747	NM_001379451.1(BCORL1):c.3259G>A (p.Gly1087Arg)	BCORL1 (G1087R)	Single nucleotide variant (missense variant)	BCORL1-related disorder	GLikely benign
Select item 3035079	NM_001379451.1(BCORL1):c.2055G>A (p.Ser685=)	BCORL1	Single nucleotide variant (synonymous variant)	BCORL1-related disorder	GLikely benign
Select item 3030286	NM_001379451.1(BCORL1):c.933TCC[1] (p.Pro313del)	BCORL1 (P313del)	Microsatellite (inframe_indel)	BCORL1-related disorder	GUncertain significance
Select item 3030054	NM_001379451.1(BCORL1):c.2759A>G (p.Asn920Ser)	BCORL1 (N920S)	Single nucleotide variant (missense variant)	BCORL1-related disorder	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	CT47A5, NXF3 +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 2687871	NM_001379451.1(BCORL1):c.4171G>A (p.Gly1391Arg)	BCORL1 (G1391R)	Single nucleotide variant (missense variant)	Oligoasthenoteratozoospermia	GPathogenic
Select item 2687797	NM_001379451.1(BCORL1):c.2615T>G (p.Val872Gly)	BCORL1 (V872G)	Single nucleotide variant (missense variant)	Oligoasthenoteratozoospermia	GPathogenic
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

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