ClinVar for Gene (Select 9203) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3193789	NM_201599.3(ZMYM3):c.3949G>A (p.Val1317Met)	ZMYM3 (V1317M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193788	NM_201599.3(ZMYM3):c.3809G>A (p.Gly1270Asp)	ZMYM3 (G1258D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193787	NM_201599.3(ZMYM3):c.3785G>A (p.Arg1262His)	ZMYM3 (R1250H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193785	NM_201599.3(ZMYM3):c.373C>T (p.Pro125Ser)	ZMYM3 (P125S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193784	NM_201599.3(ZMYM3):c.3086A>C (p.Gln1029Pro)	ZMYM3 (Q1029P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193783	NM_201599.3(ZMYM3):c.2219G>A (p.Arg740His)	ZMYM3 (R740H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193782	NM_201599.3(ZMYM3):c.2074G>A (p.Glu692Lys)	ZMYM3 (E692K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193781	NM_201599.3(ZMYM3):c.1796G>A (p.Ser599Asn)	ZMYM3 (S599N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193780	NM_201599.3(ZMYM3):c.1649G>A (p.Arg550His)	ZMYM3 (R550H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193779	NM_201599.3(ZMYM3):c.142C>G (p.Pro48Ala)	ZMYM3 (P48A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193778	NM_201599.3(ZMYM3):c.128G>T (p.Arg43Leu)	ZMYM3 (R43L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193777	NM_201599.3(ZMYM3):c.1070A>G (p.Lys357Arg)	ZMYM3 (K357R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068685	NM_201599.3(ZMYM3):c.688_699dup (p.Lys233_Pro234insAlaSerGluLys)	ZMYM3	Duplication (inframe_insertion)	Neurodevelopmental disorder	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 3054618	NM_201599.3(ZMYM3):c.3135C>T (p.Ser1045=)	ZMYM3	Single nucleotide variant (synonymous variant)	ZMYM3-related disorder	GLikely benign
Select item 3051458	NM_201599.3(ZMYM3):c.3803-9C>A	ZMYM3	Single nucleotide variant (intron variant)	ZMYM3-related disorder	GLikely benign
Select item 3047595	NM_201599.3(ZMYM3):c.702G>A (p.Pro234=)	ZMYM3	Single nucleotide variant (synonymous variant)	ZMYM3-related disorder	GLikely benign
Select item 3047138	NM_201599.3(ZMYM3):c.4081C>T (p.Leu1361=)	ZMYM3	Single nucleotide variant (synonymous variant)	ZMYM3-related disorder	GLikely benign
Select item 3045416	NM_201599.3(ZMYM3):c.1263G>A (p.Glu421=)	ZMYM3	Single nucleotide variant (synonymous variant)	ZMYM3-related disorder	GLikely benign
Select item 3043657	NM_201599.3(ZMYM3):c.177G>C (p.Leu59=)	ZMYM3	Single nucleotide variant (synonymous variant)	ZMYM3-related disorder	GLikely benign
Select item 3039923	NM_201599.3(ZMYM3):c.1416C>T (p.His472=)	ZMYM3	Single nucleotide variant (synonymous variant)	ZMYM3-related disorder	GLikely benign
Select item 3030092	NM_201599.3(ZMYM3):c.635G>T (p.Gly212Val)	ZMYM3 (G212V)	Single nucleotide variant (missense variant)	ZMYM3-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 2692564	NM_201599.3(ZMYM3):c.446C>T (p.Pro149Leu)	ZMYM3 (P149L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2661973	NM_201599.3(ZMYM3):c.1651C>T (p.Arg551Cys)	ZMYM3 (R551C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660869	NM_201599.3(ZMYM3):c.145G>C (p.Gly49Arg)	ZMYM3 (G49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660868	NM_201599.3(ZMYM3):c.338A>G (p.Glu113Gly)	ZMYM3 (E113G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660867	NM_201599.3(ZMYM3):c.779-3C>T	ZMYM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660866	NM_201599.3(ZMYM3):c.1188G>C (p.Pro396=)	ZMYM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660865	NM_201599.3(ZMYM3):c.2446C>T (p.Pro816Ser)	ZMYM3 (P804S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660864	NM_201599.3(ZMYM3):c.2572+6C>T	ZMYM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660863	NM_201599.3(ZMYM3):c.2619C>A (p.Ile873=)	ZMYM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660862	NM_201599.3(ZMYM3):c.3039C>T (p.Phe1013=)	ZMYM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660861	NM_201599.3(ZMYM3):c.3348C>G (p.Ala1116=)	ZMYM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660860	NM_201599.3(ZMYM3):c.3507C>T (p.Asn1169=)	ZMYM3	Single nucleotide variant (synonymous variant)	ZMYM3-related disorder +1 more	GLikely benign
Select item 2636932	NM_201599.3(ZMYM3):c.1144A>G (p.Thr382Ala)	ZMYM3 (T382A)	Single nucleotide variant (missense variant)	ZMYM3-related disorder	GUncertain significance
Select item 2633674	NM_201599.3(ZMYM3):c.943C>T (p.Arg315Trp)	ZMYM3 (R315W)	Single nucleotide variant (missense variant)	ZMYM3-related disorder	GUncertain significance
Select item 2631464	NM_201599.3(ZMYM3):c.2156G>A (p.Arg719Gln)	ZMYM3 (R719Q)	Single nucleotide variant (missense variant)	ZMYM3-related disorder	GUncertain significance
Select item 2629487	NM_201599.3(ZMYM3):c.1830A>C (p.Gln610His)	ZMYM3 (Q610H)	Single nucleotide variant (missense variant)	ZMYM3-related disorder	GUncertain significance
Select item 2626935	NM_201599.3(ZMYM3):c.1460C>T (p.Ala487Val)	ZMYM3 (A487V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2616642	NM_201599.3(ZMYM3):c.2149G>T (p.Ala717Ser)	ZMYM3 (A717S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582120	NM_201599.3(ZMYM3):c.736G>A (p.Ala246Thr)	ZMYM3 (A246T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2582045	NM_201599.3(ZMYM3):c.3122G>A (p.Arg1041Gln)	ZMYM3 (R1029Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580846	NM_201599.3(ZMYM3):c.141_142insT (p.Pro48fs)	ZMYM3 (P48fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2580111	NM_201599.3(ZMYM3):c.2000A>C (p.Asp667Ala)	ZMYM3 (D667A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579113	GRCh37/hg19 Xq13.1(chrX:70373327-70524150)x2	GJB1, ITGB1BP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2572042	NM_201599.3(ZMYM3):c.1332G>A (p.Lys444=)	ZMYM3	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder, X-linked 112	GPathogenic
Select item 2544996	NM_201599.3(ZMYM3):c.2335C>T (p.Pro779Ser)	ZMYM3 (P779S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532301	NM_201599.3(ZMYM3):c.1220C>T (p.Thr407Ile)	ZMYM3 (T407I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532034	NM_201599.3(ZMYM3):c.956A>G (p.Gln319Arg)	ZMYM3 (Q319R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507381	NM_201599.3(ZMYM3):c.137C>T (p.Ala46Val)	ZMYM3 (A46V)	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 2505248	NM_201599.3(ZMYM3):c.507A>T (p.Arg169Ser)	ZMYM3 (R169S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501969	NM_201599.3(ZMYM3):c.3712C>T (p.Arg1238Trp)	ZMYM3 (R1226W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501963	NM_201599.3(ZMYM3):c.3281-2A>G	ZMYM3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2493155	NM_201599.3(ZMYM3):c.3844A>G (p.Ile1282Val)	ZMYM3 (I1270V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477734	NM_201599.3(ZMYM3):c.1693A>T (p.Thr565Ser)	ZMYM3 (T565S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458585	NM_201599.3(ZMYM3):c.572C>T (p.Pro191Leu)	ZMYM3 (P191L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446133	NM_201599.3(ZMYM3):c.205G>A (p.Asp69Asn)	ZMYM3 (D69N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444613	NM_201599.3(ZMYM3):c.1192C>T (p.Pro398Ser)	ZMYM3 (P398S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442560	NM_201599.3(ZMYM3):c.3934C>T (p.Arg1312Trp)	ZMYM3 (R1300W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429659	NM_201599.3(ZMYM3):c.671_674dup (p.Leu226fs)	ZMYM3 (L226fs)	Duplication (frameshift variant)	not provided	GUncertain significance
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 2409057	NM_201599.3(ZMYM3):c.614G>C (p.Ser205Thr)	ZMYM3 (S205T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408747	NM_201599.3(ZMYM3):c.339G>T (p.Glu113Asp)	ZMYM3 (E113D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351984	NM_201599.3(ZMYM3):c.379G>A (p.Asp127Asn)	ZMYM3 (D127N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333728	NM_201599.3(ZMYM3):c.647C>A (p.Pro216His)	ZMYM3 (P216H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317949	NM_201599.3(ZMYM3):c.445C>T (p.Pro149Ser)	ZMYM3 (P149S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306668	NM_201599.3(ZMYM3):c.23G>C (p.Ser8Thr)	ZMYM3 (S8T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295418	NM_201599.3(ZMYM3):c.1678A>T (p.Asn560Tyr)	ZMYM3 (N560Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291621	NM_201599.3(ZMYM3):c.1289G>A (p.Arg430Gln)	ZMYM3 (R430Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267545	NM_201599.3(ZMYM3):c.3740G>A (p.Arg1247Gln)	ZMYM3 (R1235Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261844	NM_201599.3(ZMYM3):c.3104T>C (p.Met1035Thr)	ZMYM3 (M1023T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246520	NM_201599.3(ZMYM3):c.386G>A (p.Gly129Glu)	ZMYM3 (G129E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136188	NM_201599.3(ZMYM3):c.2455C>G (p.Pro819Ala)	ZMYM3 (P819A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710149	NM_201599.3(ZMYM3):c.1322G>A (p.Arg441Gln)	ZMYM3 (R441Q)	Single nucleotide variant (missense variant)	Abnormal facial shape +3 more	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 1705887	GRCh37/hg19 Xq13.1(chrX:70471276-70510697)x0	NONO, ZMYM3	Copy number loss	Global developmental delay	GUncertain significance
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 1297502	NM_201599.3(ZMYM3):c.1718G>A (p.Ser573Asn)	ZMYM3 (S573N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206091	NM_201599.3(ZMYM3):c.2063G>A (p.Arg688His)	ZMYM3 (R688H)	Single nucleotide variant (missense variant)	ZMYM3-related disorder	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 870716	NM_201599.3(ZMYM3):c.1745G>A (p.Ser582Asn)	ZMYM3 (S582N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807757	NM_201599.3(ZMYM3):c.683C>T (p.Ala228Val)	ZMYM3 (A228V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 807756	NM_201599.3(ZMYM3):c.990G>A (p.Leu330=)	ZMYM3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 807755	NM_201599.3(ZMYM3):c.3451C>T (p.Arg1151Trp)	ZMYM3 (R1139W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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