ClinVar for Gene (Select 124056) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300566	NM_172167.3(NOXO1):c.181G>A (p.Gly61Ser)	NOXO1, TBL3 (G61S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300563	NM_172167.3(NOXO1):c.490C>T (p.Arg164Cys)	NOXO1, TBL3 (R163C +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300562	NM_172167.3(NOXO1):c.529A>G (p.Arg177Gly)	NOXO1, TBL3 (R177G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300561	NM_172167.3(NOXO1):c.325G>T (p.Val109Leu)	NOXO1, TBL3 (V114L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300560	NM_172167.3(NOXO1):c.724G>A (p.Ala242Thr)	NOXO1, TBL3 (A242T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243466	NC_000016.9:g.(?_1607916)_(2130398_?)dup	CRAMP1, EME2 +27 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3201480	NM_172167.3(NOXO1):c.971C>T (p.Pro324Leu)	NOXO1, TBL3 (P323L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201479	NM_172167.3(NOXO1):c.920C>T (p.Ala307Val)	NOXO1, TBL3 (A306V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201478	NM_172167.3(NOXO1):c.773G>A (p.Arg258His)	NOXO1, TBL3 (R257H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201477	NM_172167.3(NOXO1):c.746A>T (p.Asp249Val)	NOXO1, TBL3 (D249V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201476	NM_172167.3(NOXO1):c.722G>A (p.Arg241His)	NOXO1, TBL3 (R241H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201475	NM_172167.3(NOXO1):c.712T>A (p.Cys238Ser)	NOXO1, TBL3 (C238S +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201474	NM_172167.3(NOXO1):c.551A>T (p.Gln184Leu)	NOXO1, TBL3 (Q184L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201473	NM_172167.3(NOXO1):c.512C>A (p.Thr171Asn)	NOXO1, TBL3 (T170N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201472	NM_172167.3(NOXO1):c.508T>G (p.Cys170Gly)	NOXO1, TBL3 (C170G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201471	NM_172167.3(NOXO1):c.406G>T (p.Val136Leu)	NOXO1, TBL3 (V141L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201470	NM_172167.3(NOXO1):c.402C>G (p.Ser134Arg)	NOXO1, TBL3 (S133R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201469	NM_172167.3(NOXO1):c.1004T>C (p.Ile335Thr)	NOXO1, TBL3 (I334T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2681440	NM_172167.3(NOXO1):c.786G>A (p.Leu262=)	NOXO1, TBL3	Single nucleotide variant (3 prime UTR variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2645960	NM_172167.3(NOXO1):c.116G>A (p.Arg39His)	NOXO1, TBL3 (R39H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2596966	NM_172167.3(NOXO1):c.340A>G (p.Thr114Ala)	NOXO1, TBL3 (T113A +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2557198	NM_172167.3(NOXO1):c.425A>G (p.Glu142Gly)	NOXO1, TBL3 (E142G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2546966	NM_172167.3(NOXO1):c.769G>A (p.Ala257Thr)	NOXO1, TBL3 (A262T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545821	NM_172167.3(NOXO1):c.205G>A (p.Val69Ile)	NOXO1, TBL3 (V69I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2523262	NM_172167.3(NOXO1):c.1040T>G (p.Leu347Arg)	NOXO1, TBL3 (L351R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2520154	NM_172167.3(NOXO1):c.623C>T (p.Ala208Val)	NOXO1, TBL3 (A208V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2519169	NM_172167.3(NOXO1):c.613C>T (p.Arg205Trp)	NOXO1, TBL3 (R210W +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2491144	NM_172167.3(NOXO1):c.154C>A (p.Leu52Ile)	NOXO1, TBL3 (L52I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2488358	NM_172167.3(NOXO1):c.913G>A (p.Asp305Asn)	NOXO1, TBL3 (D304N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2470730	NM_172167.3(NOXO1):c.1064G>A (p.Gly355Asp)	NOXO1, TBL3 (G354D +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2469823	NM_172167.3(NOXO1):c.1024G>A (p.Val342Ile)	NOXO1, TBL3 (V342I +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2399612	NM_172167.3(NOXO1):c.419C>T (p.Thr140Ile)	NOXO1, TBL3 (T139I +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394266	NM_172167.3(NOXO1):c.141G>C (p.Gln47His)	NOXO1, TBL3 (Q47H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388129	NM_172167.3(NOXO1):c.653C>A (p.Ala218Glu)	NOXO1, TBL3 (A218E +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2384251	NM_172167.3(NOXO1):c.671G>T (p.Arg224Leu)	NOXO1, TBL3 (R223L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2358235	NM_172167.3(NOXO1):c.354C>A (p.Phe118Leu)	NOXO1, TBL3 (F117L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2355614	NM_172167.3(NOXO1):c.1058G>A (p.Arg353His)	NOXO1, TBL3 (R352H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2331669	NM_172167.3(NOXO1):c.781G>C (p.Val261Leu)	NOXO1, TBL3 (V260L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2305707	NM_172167.3(NOXO1):c.254C>T (p.Thr85Met)	NOXO1, TBL3 (T84M +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2304753	NM_172167.3(NOXO1):c.989C>A (p.Pro330His)	NOXO1, TBL3 (P334H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2304443	NM_172167.3(NOXO1):c.57G>C (p.Lys19Asn)	NOXO1, TBL3 (K19N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2299186	NM_172167.3(NOXO1):c.971C>G (p.Pro324Arg)	NOXO1, TBL3 (P324R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2285700	NM_172167.3(NOXO1):c.82G>A (p.Val28Met)	NOXO1, TBL3 (V28M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2284487	NM_172167.3(NOXO1):c.265C>A (p.Leu89Met)	NOXO1, TBL3 (L88M +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2283586	NM_172167.3(NOXO1):c.397G>A (p.Gly133Ser)	NOXO1, TBL3 (G138S +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2279352	NM_172167.3(NOXO1):c.427G>C (p.Glu143Gln)	NOXO1, TBL3 (E143Q +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2267232	NM_172167.3(NOXO1):c.562G>C (p.Asp188His)	NOXO1, TBL3 (D188H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253181	NM_172167.3(NOXO1):c.1078T>G (p.Cys360Gly)	NOXO1, TBL3 (C359G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2226029	NM_172167.3(NOXO1):c.877G>A (p.Ala293Thr)	NOXO1, TBL3 (A292T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808105	GRCh37/hg19 16p13.3(chr16:2021144-2146432)x1	GFER, MIR1225 +9 more	Copy number loss	not provided	GPathogenic
Select item 1807728	GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1	BRICD5, CASKIN1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1459269	NC_000016.9:g.(?_2003468)_(2126543_?)del	GFER, NDUFB10 +12 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1455610	NC_000016.9:g.(?_2029297)_(2096295_?)del	GFER, NHERF2 +5 more	Deletion	not provided	GPathogenic
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980582	GRCh37/hg19 16p13.3(chr16:2011148-2161281)x3	GFER, MIR1225 +13 more	Copy number gain	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	EME2, FAHD1 +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 831814	NC_000016.10:g.(?_1523498)_(2064447_?)del	MAPK8IP3, MEIOB +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 689437	Single allele	CRAMP1, EME2 +28 more	Inversion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	ANTKMT, BAIAP3 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564257	GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	BRICD5, CASKIN1 +34 more	Copy number loss	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253874	GRCh37/hg19 16p13.3(chr16:1860861-2070554)x3	MEIOB, FAHD1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic

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