200424[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1341929	NM_001287491.2(TET3):c.-425+1G>T	TET3	Single nucleotide variant (splice donor variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 2446221	NM_001287491.2(TET3):c.7C>T (p.Gln3Ter)	TET3 (Q3*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1675785	NM_001287491.2(TET3):c.15G>C (p.Gln5His)	TET3 (Q5H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636362	NM_001287491.2(TET3):c.23del (p.Leu8fs)	TET3 (L8fs)	Deletion (frameshift variant)	TET3-related disorder	GUncertain significance
Select item 1878622	NM_001287491.2(TET3):c.67C>T (p.Arg23Cys)	TET3 (R23C)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 3376267	NM_001287491.2(TET3):c.70C>T (p.Gln24Ter)	TET3 (Q24*)	Single nucleotide variant (nonsense)	Beck-Fahrner syndrome	GLikely pathogenic
Select item 3375683	NM_001287491.2(TET3):c.72G>T (p.Gln24His)	TET3 (Q24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191281	NM_001287491.2(TET3):c.79G>A (p.Val27Ile)	TET3 (V27I)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome +1 more	GUncertain significance
Select item 2663520	NM_001287491.2(TET3):c.139_140dup (p.Gly48fs)	TET3 (G48fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2663463	NM_001287491.2(TET3):c.174dup (p.Thr59fs)	TET3 (T59fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2633298	NM_001287491.2(TET3):c.175A>G (p.Thr59Ala)	TET3 (T59A)	Single nucleotide variant (missense variant)	TET3-related disorder	GUncertain significance
Select item 3373158	NM_001287491.2(TET3):c.190C>T (p.Arg64Trp)	TET3 (R64W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365920	NM_001287491.2(TET3):c.207_208del (p.Cys69fs)	TET3 (C69fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3376875	NM_001287491.2(TET3):c.244C>T (p.Gln82Ter)	TET3 (Q82*)	Single nucleotide variant (nonsense)	Beck-Fahrner syndrome	GLikely pathogenic
Select item 3234371	NM_001287491.2(TET3):c.285A>G (p.Lys95=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1298815	NM_001287491.2(TET3):c.303G>A (p.Glu101=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3040532	NM_001287491.2(TET3):c.304-311G>T	LOC129934104, TET3 (E8*)	Single nucleotide variant (nonsense +1 more)	TET3-related disorder	GUncertain significance
Select item 1342286	NM_001287491.2(TET3):c.360+47G>A	TET3	Single nucleotide variant (intron variant)	Beck-Fahrner syndrome +1 more	GBenign
Select item 1801442	NM_001287491.2(TET3):c.361-13808_361-13807insTTGTGTGTTGGTCGTGTGCGCGCGCCCCCCGCTCCCGCGCGCGATGGCCCAGCGGCTGGCAAGAGGGTGTGTGT	TET3	Microsatellite (intron variant)	Schizophrenia	GUncertain significance
Select item 1342287	NM_001287491.2(TET3):c.361-17dup	TET3	Duplication (intron variant)	Beck-Fahrner syndrome	GBenign
Select item 3369293	NM_001287491.2(TET3):c.372G>C (p.Glu124Asp)	TET3 (E124D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651034	NM_001287491.2(TET3):c.439C>A (p.Arg147=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2399630	NM_001287491.2(TET3):c.464C>T (p.Pro155Leu)	TET3 (P20L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253992	NM_001287491.2(TET3):c.487G>T (p.Ala163Ser)	TET3 (A163S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651035	NM_001287491.2(TET3):c.513G>C (p.Gly171=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3372618	NM_001287491.2(TET3):c.518C>T (p.Pro173Leu)	TET3 (P173L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636744	NM_001287491.2(TET3):c.543C>A (p.Asp181Glu)	TET3 (D181E +2 more)	Single nucleotide variant (missense variant)	TET3-related disorder	GUncertain significance
Select item 3234261	NM_001287491.2(TET3):c.648T>C (p.Leu216=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2431729	NM_001287491.2(TET3):c.677G>A (p.Arg226His)	TET3 (R133H +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1697103	NM_001287491.2(TET3):c.679G>A (p.Glu227Lys)	TET3 (E134K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376476	NM_001287491.2(TET3):c.702C>G (p.Asn234Lys)	TET3 (N141K +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 2367851	NM_001287491.2(TET3):c.707G>T (p.Ser236Ile)	TET3 (S101I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210465	NM_001287491.2(TET3):c.733G>T (p.Gly245Cys)	TET3 (G245C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029300	NM_001287491.2(TET3):c.737G>A (p.Cys246Tyr)	TET3 (C153Y +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1301874	NM_001287491.2(TET3):c.789G>C (p.Ala263=)	TET3	Single nucleotide variant (synonymous variant)	TET3-related disorder	GUncertain significance
Select item 1676220	NM_001287491.2(TET3):c.791G>A (p.Arg264Gln)	TET3 (R171Q +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1298816	NM_001287491.2(TET3):c.818A>G (p.Asn273Ser)	TET3 (N180S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024667	NM_001287491.2(TET3):c.879G>A (p.Val293=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3364502	NM_001287491.2(TET3):c.881_882delinsCA (p.Val294Ala)	TET3 (V201A +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1098696	NM_001287491.2(TET3):c.881T>C (p.Val294Ala)	TET3 (V201A +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 3370822	NM_001287491.2(TET3):c.905C>T (p.Pro302Leu)	TET3 (P209L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678280	NM_001287491.2(TET3):c.914C>T (p.Pro305Leu)	TET3 (P212L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663617	NM_001287491.2(TET3):c.946C>T (p.Pro316Ser)	TET3 (P181S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234450	NM_001287491.2(TET3):c.948A>G (p.Pro316=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676232	NM_001287491.2(TET3):c.949G>A (p.Ala317Thr)	TET3 (A224T +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1675786	NM_001287491.2(TET3):c.1020C>G (p.Ser340=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651036	NM_001287491.2(TET3):c.1101C>T (p.Ser367=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651037	NM_001287491.2(TET3):c.1113G>A (p.Pro371=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340902	NM_001287491.2(TET3):c.1117_1122delinsTTC (p.Pro373_Ser374delinsPhe)	TET3	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2672819	NM_001287491.2(TET3):c.1128C>T (p.Ser376=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370397	NM_001287491.2(TET3):c.1133C>G (p.Pro378Arg)	TET3 (P378R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234966	NM_001287491.2(TET3):c.1139C>T (p.Ala380Val)	TET3 (A245V +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 2169125	NM_001287491.2(TET3):c.1183A>G (p.Arg395Gly)	TET3 (R260G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313252	NM_001287491.2(TET3):c.1189C>G (p.Pro397Ala)	TET3 (P304A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 816638	NM_001287491.2(TET3):c.1215del (p.Trp406fs)	TET3 (W313fs +1 more)	Deletion (frameshift variant)	Beck-Fahrner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3364453	NM_001287491.2(TET3):c.1228C>T (p.Pro410Ser)	TET3 (P317S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651038	NM_001287491.2(TET3):c.1242C>T (p.His414=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789327	NM_001287491.2(TET3):c.1252G>C (p.Ala418Pro)	TET3 (A283P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651039	NM_001287491.2(TET3):c.1255C>A (p.Pro419Thr)	TET3 (P284T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712535	NM_001287491.2(TET3):c.1255C>T (p.Pro419Ser)	TET3 (P284S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260121	NM_001287491.2(TET3):c.1285C>T (p.Pro429Ser)	TET3 (P336S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2630973	NM_001287491.2(TET3):c.1288A>G (p.Arg430Gly)	TET3 (R295G +2 more)	Single nucleotide variant (missense variant)	TET3-related disorder	GUncertain significance
Select item 2584681	NM_001287491.2(TET3):c.1294G>C (p.Glu432Gln)	TET3 (E297Q +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1314335	NM_001287491.2(TET3):c.1307C>T (p.Ala436Val)	TET3 (A343V +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3066311	NM_001287491.2(TET3):c.1310G>A (p.Trp437Ter)	TET3 (W302* +2 more)	Single nucleotide variant (nonsense)	Beck-Fahrner syndrome	GLikely pathogenic
Select item 3376645	NM_001287491.2(TET3):c.1349G>A (p.Trp450Ter)	TET3 (W357* +1 more)	Single nucleotide variant (nonsense)	Beck-Fahrner syndrome	GPathogenic
Select item 2633336	NM_001287491.2(TET3):c.1356G>A (p.Met452Ile)	TET3 (M317I +2 more)	Single nucleotide variant (missense variant)	TET3-related disorder	GUncertain significance
Select item 1288297	NM_001287491.2(TET3):c.1371C>T (p.Pro457=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3375178	NM_001287491.2(TET3):c.1372G>A (p.Asp458Asn)	TET3 (D365N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1331575	NM_001287491.2(TET3):c.1395G>T (p.Gln465His)	TET3 (Q372H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051216	NM_001287491.2(TET3):c.1456A>G (p.Thr486Ala)	TET3 (T351A +2 more)	Single nucleotide variant (missense variant)	TET3-related disorder	GLikely benign
Select item 3345520	NM_001287491.2(TET3):c.1468G>C (p.Val490Leu)	TET3 (V397L +1 more)	Single nucleotide variant (missense variant)	TET3-related disorder	GUncertain significance
Select item 3365807	NM_001287491.2(TET3):c.1497GGCCCC[3] (p.Pro503_Ser504insAlaPro)	TET3	Microsatellite	not provided	GUncertain significance
Select item 1313607	NM_001287491.2(TET3):c.1496C>T (p.Pro499Leu)	TET3 (P406L +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome +2 more	GUncertain significance
Select item 992780	NM_001287491.2(TET3):c.1502C>T (p.Pro501Leu)	TET3 (P408L +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GUncertain significance
Select item 3030240	NM_001287491.2(TET3):c.1503G>A (p.Pro501=)	TET3	Single nucleotide variant (synonymous variant)	TET3-related disorder	GLikely benign
Select item 2630357	NM_001287491.2(TET3):c.1504G>A (p.Ala502Thr)	TET3 (A367T +2 more)	Single nucleotide variant (missense variant)	TET3-related disorder	GUncertain significance
Select item 2637388	NM_001287491.2(TET3):c.1532C>T (p.Ala511Val)	TET3 (A376V +2 more)	Single nucleotide variant (missense variant)	TET3-related disorder	GUncertain significance
Select item 3239569	NM_001287491.2(TET3):c.1536C>T (p.Pro512=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651040	NM_001287491.2(TET3):c.1542A>C (p.Pro514=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575823	NM_001287491.2(TET3):c.1553C>T (p.Pro518Leu)	TET3 (P383L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572270	NM_001287491.2(TET3):c.1565A>G (p.Gln522Arg)	TET3 (Q387R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504162	NM_001287491.2(TET3):c.1606C>T (p.Arg536Cys)	TET3 (R401C +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2573857	NM_001287491.2(TET3):c.1637C>T (p.Thr546Ile)	TET3 (T411I +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2291915	NM_001287491.2(TET3):c.1667C>T (p.Ala556Val)	TET3 (A421V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365706	NM_001287491.2(TET3):c.1677G>T (p.Trp559Cys)	TET3 (W466C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314327	NM_001287491.2(TET3):c.1690A>T (p.Ser564Cys)	TET3 (S471C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789560	NM_001287491.2(TET3):c.1700T>C (p.Val567Ala)	TET3 (V567A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2651041	NM_001287491.2(TET3):c.1719A>G (p.Arg573=)	TET3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572278	NM_001287491.2(TET3):c.1721C>T (p.Pro574Leu)	TET3 (P439L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683564	NM_001287491.2(TET3):c.1723C>A (p.Pro575Thr)	TET3 (P482T +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 2662234	NM_001287491.2(TET3):c.1724C>A (p.Pro575His)	TET3 (P440H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504823	NM_001287491.2(TET3):c.1736A>G (p.Lys579Arg)	TET3 (K444R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803709	NM_001287491.2(TET3):c.1743G>T (p.Lys581Asn)	TET3 (K446N +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 3037521	NM_001287491.2(TET3):c.1768G>A (p.Val590Met)	TET3 (V455M +2 more)	Single nucleotide variant (missense variant)	TET3-related disorder	GBenign
Select item 3026119	NM_001287491.2(TET3):c.1811G>A (p.Arg604Gln)	TET3 (R469Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442687	NM_001287491.2(TET3):c.1858C>G (p.Leu620Val)	TET3 (L485V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992781	NM_001287491.2(TET3):c.1874G>A (p.Arg625Gln)	TET3 (R532Q +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GUncertain significance

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