ClinVar for Gene (Select 158586) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199674	NM_007157.4(ZXDB):c.782C>T (p.Pro261Leu)	LOC130068357, ZXDB (P261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199673	NM_007157.4(ZXDB):c.755C>T (p.Pro252Leu)	LOC130068357, ZXDB (P252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199672	NM_007157.4(ZXDB):c.662C>T (p.Pro221Leu)	LOC130068357, ZXDB (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199671	NM_007157.4(ZXDB):c.616G>A (p.Gly206Arg)	ZXDB (G206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199670	NM_007157.4(ZXDB):c.590C>T (p.Pro197Leu)	LOC130068356, ZXDB (P197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199669	NM_007157.4(ZXDB):c.540T>G (p.Phe180Leu)	LOC130068356, ZXDB (F180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199667	NM_007157.4(ZXDB):c.2369A>C (p.Glu790Ala)	ZXDB (E790A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199666	NM_007157.4(ZXDB):c.19C>T (p.Leu7Phe)	ZXDB (L7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199665	NM_007157.4(ZXDB):c.1819A>G (p.Ile607Val)	ZXDB (I607V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199664	NM_007157.4(ZXDB):c.1754C>A (p.Ala585Glu)	ZXDB (A585E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199663	NM_007157.4(ZXDB):c.1702A>G (p.Met568Val)	ZXDB (M568V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199662	NM_007157.4(ZXDB):c.151C>G (p.Gln51Glu)	ZXDB (Q51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199661	NM_007157.4(ZXDB):c.121A>C (p.Thr41Pro)	ZXDB (T41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199660	NM_007157.4(ZXDB):c.1138A>G (p.Ser380Gly)	ZXDB (S380G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199658	NM_007157.4(ZXDB):c.1069G>A (p.Gly357Ser)	ZXDB (G357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199657	NM_007157.4(ZXDB):c.1010C>A (p.Pro337Gln)	ZXDB (P337Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062512	GRCh37/hg19 Xp11.21(chrX:57076188-57932877)	FAAH2, SPIN2A +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 2660732	NM_007157.4(ZXDB):c.2220G>A (p.Ser740=)	ZXDB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660731	NM_007157.4(ZXDB):c.1299A>G (p.Lys433=)	ZXDB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660730	NM_007157.4(ZXDB):c.1284T>C (p.Phe428=)	ZXDB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660729	NM_007157.4(ZXDB):c.795C>T (p.Gly265=)	LOC130068357, ZXDB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660728	NM_007157.4(ZXDB):c.792C>T (p.Ser264=)	LOC130068357, ZXDB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660727	NM_007157.4(ZXDB):c.498G>A (p.Ala166=)	LOC130068356, ZXDB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660726	NM_007157.4(ZXDB):c.267C>T (p.Gly89=)	ZXDB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660725	NM_007157.4(ZXDB):c.245GCG[4] (p.Gly86_Gly89del)	ZXDB	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2660724	NM_007157.4(ZXDB):c.235G>C (p.Asp79His)	ZXDB (D79H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660723	NM_007157.4(ZXDB):c.232A>C (p.Thr78Pro)	ZXDB (T78P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2603837	NM_007157.4(ZXDB):c.836G>C (p.Gly279Ala)	LOC130068357, ZXDB (G279A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599526	NM_007157.4(ZXDB):c.200G>C (p.Arg67Pro)	ZXDB (R67P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552503	NM_007157.4(ZXDB):c.125G>A (p.Arg42His)	ZXDB (R42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549193	NM_007157.4(ZXDB):c.337G>A (p.Ala113Thr)	LOC130068356, ZXDB (A113T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549192	NM_007157.4(ZXDB):c.328G>A (p.Gly110Ser)	LOC130068356, ZXDB (G110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542490	NM_007157.4(ZXDB):c.683C>G (p.Pro228Arg)	LOC130068357, ZXDB (P228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526962	NM_007157.4(ZXDB):c.725C>T (p.Ala242Val)	LOC130068357, ZXDB (A242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507688	NM_007157.4(ZXDB):c.895C>A (p.Gln299Lys)	ZXDB (Q299K)	Single nucleotide variant (missense variant)	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 2477811	NM_007157.4(ZXDB):c.119C>T (p.Pro40Leu)	ZXDB (P40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463723	NM_007157.4(ZXDB):c.2329G>A (p.Gly777Arg)	ZXDB (G777R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457821	NM_007157.4(ZXDB):c.1714C>A (p.His572Asn)	ZXDB (H572N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406412	NM_007157.4(ZXDB):c.2270C>T (p.Ala757Val)	ZXDB (A757V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405810	NM_007157.4(ZXDB):c.418A>T (p.Thr140Ser)	LOC130068356, ZXDB (T140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401239	NM_007157.4(ZXDB):c.401C>T (p.Ala134Val)	LOC130068356, ZXDB (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398585	NM_007157.4(ZXDB):c.351G>T (p.Leu117Phe)	LOC130068356, ZXDB (L117F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385115	NM_007157.4(ZXDB):c.425T>A (p.Leu142Gln)	LOC130068356, ZXDB (L142Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367043	NM_007157.4(ZXDB):c.580G>C (p.Ala194Pro)	LOC130068356, ZXDB (A194P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361472	NM_007157.4(ZXDB):c.547G>C (p.Gly183Arg)	LOC130068356, ZXDB (G183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357783	NM_007157.4(ZXDB):c.2035C>G (p.Leu679Val)	ZXDB (L679V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357198	NM_007157.4(ZXDB):c.434G>A (p.Arg145His)	LOC130068356, ZXDB (R145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354089	NM_007157.4(ZXDB):c.659A>C (p.His220Pro)	LOC130068357, ZXDB (H220P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346988	NM_007157.4(ZXDB):c.799G>T (p.Gly267Cys)	LOC130068357, ZXDB (G267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345194	NM_007157.4(ZXDB):c.222G>C (p.Leu74Phe)	ZXDB (L74F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2343992	NM_007157.4(ZXDB):c.257G>T (p.Gly86Val)	ZXDB (G86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339078	NM_007157.4(ZXDB):c.1721T>C (p.Val574Ala)	ZXDB (V574A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315809	NM_007157.4(ZXDB):c.665G>A (p.Gly222Asp)	LOC130068357, ZXDB (G222D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310907	NM_007157.4(ZXDB):c.323G>C (p.Gly108Ala)	LOC130068356, ZXDB (G108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304989	NM_007157.4(ZXDB):c.1113G>C (p.Glu371Asp)	ZXDB (E371D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293138	NM_007157.4(ZXDB):c.70G>A (p.Gly24Ser)	ZXDB (G24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292982	NM_007157.4(ZXDB):c.371G>T (p.Gly124Val)	LOC130068356, ZXDB (G124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290922	NM_007157.4(ZXDB):c.2101G>T (p.Val701Leu)	ZXDB (V701L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270252	NM_007157.4(ZXDB):c.203G>A (p.Gly68Asp)	ZXDB (G68D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246839	NM_007157.4(ZXDB):c.1922G>A (p.Ser641Asn)	ZXDB (S641N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233457	NM_007157.4(ZXDB):c.1912G>A (p.Ala638Thr)	ZXDB (A638T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219924	NM_007157.4(ZXDB):c.1556C>T (p.Ala519Val)	ZXDB (A519V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219888	NM_007157.4(ZXDB):c.1543G>A (p.Val515Met)	ZXDB (V515M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807829	GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3	ALAS2, AMER1 +34 more	Copy number gain	not provided	GLikely pathogenic
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 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 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 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 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 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688700	GRCh37/hg19 Xp11.21(chrX:56457791-57976114)x2	FAAH2, SPIN2A +5 more	Copy number gain	not provided	GUncertain significance
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 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 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	ARMCX3, CT47A11 +2631 more	Duplication	Autism +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 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 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 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	PPP1R3F, RGN +300 more	Copy number loss	See cases	GPathogenic
Select item 442760	GRCh37/hg19 Xp11.21-q11.1(chrX:56457791-62348148)x3	FAAH2, SPIN2A +5 more	Copy number gain	See cases	GUncertain significance
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

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