NOXA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238683	GRCh38/hg38 9q34.3(chr9:136806104-138394717)	LOC130003043, LOC130003044 +199 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238682	GRCh38/hg38 9q34.3(chr9:137569711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238672	GRCh38/hg38 9q34.3(chr9:137529711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238695	GRCh38/hg38 9q34.3(chr9:137059436-137902321)	ANAPC2, ARRDC1 +136 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238717	GRCh38/hg38 9q34.3(chr9:137170000-138360000)	ANAPC2, ARRDC1 +114 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59151	GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	ARRDC1, ARRDC1-AS1 +92 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 3238676	GRCh38/hg38 9q34.3(chr9:137272928-137711050)	ARRDC1, ARRDC1-AS1 +71 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 155260	GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1	ARRDC1, ARRDC1-AS1 +67 more	Copy number loss	See cases	GPathogenic
Select item 151947	GRCh38/hg38 9q34.3(chr9:137345965-137447506)x3	ENTPD8, EXD3 +9 more	Copy number gain	See cases	GLikely benign
Select item 59091	GRCh38/hg38 9q34.3(chr9:137345965-137640771)x1	ARRDC1, ARRDC1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 3238710	GRCh38/hg38 9q34.3(chr9:137361253-138125937)	ARRDC1, ARRDC1-AS1 +67 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 151395	GRCh38/hg38 9q34.3(chr9:137372891-137757091)x3	ARRDC1, ARRDC1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 3238711	GRCh38/hg38 9q34.3(chr9:137375729-137696525)	ARRDC1, ARRDC1-AS1 +44 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 147707	GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3	ARRDC1, ARRDC1-AS1 +66 more	Copy number gain	See cases	GPathogenic
Select item 3238685	GRCh38/hg38 9q34.3(chr9:137423394-137619049)	ARRDC1, ARRDC1-AS1 +32 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2351824	NM_001256067.2(NOXA1):c.107C>T (p.Pro36Leu)	NOXA1 (P36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201465	NM_001256067.2(NOXA1):c.130G>A (p.Ala44Thr)	NOXA1 (A44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621234	NM_001256067.2(NOXA1):c.160C>T (p.Pro54Ser)	NOXA1 (P54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374551	NM_001256067.2(NOXA1):c.193G>A (p.Val65Met)	NOXA1 (V65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300558	NM_001256067.2(NOXA1):c.206C>A (p.Thr69Asn)	NOXA1 (T69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300551	NM_001256067.2(NOXA1):c.217G>A (p.Val73Ile)	NOXA1 (V73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602330	NM_001256067.2(NOXA1):c.325G>A (p.Asp109Asn)	NOXA1 (D109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201467	NM_001256067.2(NOXA1):c.374T>C (p.Leu125Pro)	NOXA1 (L125P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529037	NM_001256067.2(NOXA1):c.380A>G (p.Asn127Ser)	NOXA1 (N127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510804	NM_001256067.2(NOXA1):c.425C>T (p.Ala142Val)	NOXA1 (A142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300553	NM_001256067.2(NOXA1):c.458C>T (p.Pro153Leu)	NOXA1 (P153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300554	NM_001256067.2(NOXA1):c.509G>A (p.Arg170Gln)	NOXA1 (R170Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2605098	NM_001256067.2(NOXA1):c.541G>A (p.Gly181Ser)	NOXA1 (G181S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555346	NM_001256067.2(NOXA1):c.547G>A (p.Val183Ile)	NOXA1 (V183I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513953	NM_001256067.2(NOXA1):c.553C>T (p.Arg185Trp)	NOXA1 (R185W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478276	NM_001256067.2(NOXA1):c.589G>A (p.Val197Met)	NOXA1 (V197M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201468	NM_001256067.2(NOXA1):c.634G>A (p.Asp212Asn)	NOXA1 (D212N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659822	NM_001256067.2(NOXA1):c.636C>T (p.Asp212=)	NOXA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2217467	NM_001256067.2(NOXA1):c.637G>A (p.Asp213Asn)	NOXA1 (D213N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472279	NM_001256067.2(NOXA1):c.688C>G (p.His230Asp)	NOXA1 (H230D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300555	NM_001256067.2(NOXA1):c.716C>A (p.Ser239Tyr)	NOXA1 (S183Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401013	NM_001256067.2(NOXA1):c.775C>G (p.Arg259Gly)	NOXA1 (R203G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300556	NM_001256067.2(NOXA1):c.808C>T (p.Pro270Ser)	NOXA1 (P270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335290	NM_001256067.2(NOXA1):c.824T>C (p.Val275Ala)	NOXA1 (V219A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 441014	NM_001256067.2(NOXA1):c.870dup (p.Pro291fs)	NOXA1 (P235fs +1 more)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 2457767	NM_001256067.2(NOXA1):c.898G>A (p.Ala300Thr)	NOXA1 (A244T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456506	NM_001256067.2(NOXA1):c.904G>A (p.Ala302Thr)	NOXA1 (A246T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343455	NM_001256067.2(NOXA1):c.908G>A (p.Gly303Glu)	NOXA1 (G303E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384305	NM_001256067.2(NOXA1):c.931G>A (p.Glu311Lys)	NOXA1 (E255K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300552	NM_001256067.2(NOXA1):c.986G>A (p.Arg329Gln)	NOXA1 (R273Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385886	NM_001256067.2(NOXA1):c.997G>A (p.Asp333Asn)	NOXA1 (D277N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411276	NM_001256067.2(NOXA1):c.1012C>T (p.Arg338Trp)	NOXA1 (R282W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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