ClinVar for Gene (Select 26548) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111425	NM_012278.4(ITGB1BP2):c.787G>A (p.Val263Met)	ITGB1BP2, LOC126863276 (V140M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111423	NM_012278.4(ITGB1BP2):c.650C>T (p.Ser217Phe)	ITGB1BP2, LOC126863276 (S217F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111422	NM_012278.4(ITGB1BP2):c.646G>C (p.Ala216Pro)	ITGB1BP2, LOC126863276 (A93P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111421	NM_012278.4(ITGB1BP2):c.545A>G (p.Lys182Arg)	ITGB1BP2, LOC126863276 (K182R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111420	NM_012278.4(ITGB1BP2):c.527G>A (p.Arg176Gln)	ITGB1BP2, LOC126863276 (R176Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111419	NM_012278.4(ITGB1BP2):c.304C>T (p.Arg102Trp)	ITGB1BP2 (R102W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2579113	GRCh37/hg19 Xq13.1(chrX:70373327-70524150)x2	GJB1, ITGB1BP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2569241	NM_012278.4(ITGB1BP2):c.758A>G (p.His253Arg)	ITGB1BP2, LOC126863276 (H253R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541286	NM_012278.4(ITGB1BP2):c.712C>A (p.Pro238Thr)	ITGB1BP2, LOC126863276 (P115T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516289	NM_012278.4(ITGB1BP2):c.76C>T (p.His26Tyr)	ITGB1BP2 (H26Y)	Single nucleotide variant (missense variant +1 more)	not specified	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 2425299	NC_000023.10:g.(?_69748945)_(70644108_?)dup	CXorf65, FOXO4 +11 more	Duplication	FG syndrome 1	GUncertain significance
Select item 2422586	NC_000023.10:g.(?_70327586)_(70683896_?)dup	GJB1, IL2RG +6 more	Duplication	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2394517	NM_012278.4(ITGB1BP2):c.923C>G (p.Ala308Gly)	ITGB1BP2 (A185G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382014	NM_012278.4(ITGB1BP2):c.587C>T (p.Ala196Val)	ITGB1BP2, LOC126863276 (A73V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381372	NM_012278.4(ITGB1BP2):c.779G>A (p.Gly260Asp)	ITGB1BP2, LOC126863276 (G137D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347834	NM_012278.4(ITGB1BP2):c.824A>G (p.Asn275Ser)	ITGB1BP2 (N152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339314	NM_012278.4(ITGB1BP2):c.706C>G (p.Gln236Glu)	ITGB1BP2, LOC126863276 (Q236E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260718	NM_012278.4(ITGB1BP2):c.490G>T (p.Asp164Tyr)	ITGB1BP2, LOC126863276 (D41Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1340039	GRCh37/hg19 Xq13.1(chrX:69917640-70638292)x2	CXorf65, FOXO4 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1322000	GRCh37/hg19 Xq13.1(chrX:70386654-70743623)x2	GJB1, ITGB1BP2 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 742622	NM_012278.4(ITGB1BP2):c.723G>A (p.Ala241=)	LOC126863276, ITGB1BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736423	NM_012278.4(ITGB1BP2):c.430C>T (p.Arg144Trp)	ITGB1BP2 (R21W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 723477	NM_012278.4(ITGB1BP2):c.143T>G (p.Val48Gly)	ITGB1BP2 (V48G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 721436	NM_012278.4(ITGB1BP2):c.115-4T>C	ITGB1BP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 719161	NM_012278.4(ITGB1BP2):c.37C>T (p.His13Tyr)	ITGB1BP2 (H13Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ITGB1BP2, RGN +281 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	ABCB7, ACE2 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ABCB7, ABCD1 +695 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	RBMX2, RBMXL3 +509 more	Copy number gain	See cases	GPathogenic
Select item 442898	GRCh37/hg19 Xq13.1(chrX:70287671-70997047)x2	CXCR3, CXorf49 +14 more	Copy number gain	See cases	GUncertain significance
Select item 442897	GRCh37/hg19 Xq13.1(chrX:70287671-70997047)x3	CXCR3, CXorf49 +14 more	Copy number gain	See cases	GUncertain significance
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	PPP1R3F, RGN +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	HDAC8, HDX +731 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	LHFPL1, LONRF3 +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	MECP2, MED12 +523 more	Copy number gain	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	GAGE1, GAGE12H +390 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	ABCB7, ABCD1 +505 more	Copy number gain	See cases	GPathogenic
Select item 442018	GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1	ABCB7, AMER1 +104 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	FAM133A, FAM156A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	FOXO4, FOXP3 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	TMSB4X, TNMD +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	GPKOW, PIN4 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	CT47A11, CT47A12 +818 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	CT45A2, PIN4 +819 more	Copy number loss	See cases	GPathogenic
Select item 253757	GRCh37/hg19 Xq13.1(chrX:70459474-70654410)x2	ITGB1BP2, TAF1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	ABCB7, ABCD1 +821 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	EOLA2, ERAS +822 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	RENBP, REPS2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	SPANXD, TCEAL4 +822 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ALAS2, AMER1 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARMCX2, CFAP47 +821 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	MAGEE2, MTRNR2L10 +822 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	LOC116309160, LOC116309161 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC130068156, LOC130068157 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068116, LOC130068117 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	NAA10, NALF2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155458	GRCh38/hg38 Xq13.1(chrX:71022322-71682982)x2	LOC130068418, LOC130068419 +44 more	Copy number gain	See cases	GUncertain significance
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	LOC130068404, LOC130068405 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	GPR101, GPR119 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 155235	GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2	CXCR3, CXorf49 +45 more	Copy number gain	See cases	GUncertain significance

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