ClinVar for Gene (Select 10811) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300559	NM_001256067.2(NOXA1):c.1318C>T (p.His440Tyr)	NOXA1 (H440Y +2 more)	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 3300557	NM_001256067.2(NOXA1):c.1333A>G (p.Ile445Val)	NOXA1 (I396V +2 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 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 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 3300553	NM_001256067.2(NOXA1):c.458C>T (p.Pro153Leu)	NOXA1 (P153L)	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 3300551	NM_001256067.2(NOXA1):c.217G>A (p.Val73Ile)	NOXA1 (V73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 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 3238711	GRCh38/hg38 9q34.3(chr9:137375729-137696525)	ARRDC1, ARRDC1-AS1 +44 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238710	GRCh38/hg38 9q34.3(chr9:137361253-138125937)	ARRDC1, ARRDC1-AS1 +67 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 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 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	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 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 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 3238695	GRCh38/hg38 9q34.3(chr9:137059436-137902321)	ANAPC2, ARRDC1 +136 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 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 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 3238685	GRCh38/hg38 9q34.3(chr9:137423394-137619049)	ARRDC1, ARRDC1-AS1 +32 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 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	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 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 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 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 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 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 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 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 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 3201467	NM_001256067.2(NOXA1):c.374T>C (p.Leu125Pro)	NOXA1 (L125P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201466	NM_001256067.2(NOXA1):c.1330C>T (p.Arg444Cys)	NOXA1 (R395C +2 more)	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 3201464	NM_001256067.2(NOXA1):c.1243C>T (p.Pro415Ser)	NOXA1 (P415S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201463	NM_001256067.2(NOXA1):c.1102A>C (p.Ile368Leu)	NOXA1 (I312L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
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 2621234	NM_001256067.2(NOXA1):c.160C>T (p.Pro54Ser)	NOXA1 (P54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2602330	NM_001256067.2(NOXA1):c.325G>A (p.Asp109Asn)	NOXA1 (D109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591091	NM_001256067.2(NOXA1):c.1108G>A (p.Glu370Lys)	NOXA1 (E314K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576635	GRCh37/hg19 9q34.3(chr9:140277524-140762652)x3	DPH7, NSMF +9 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576634	GRCh37/hg19 9q34.3(chr9:140327663-140756825)x3	ARRDC1, DPH7 +8 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576633	GRCh37/hg19 9q34.3(chr9:140233379-140756825)x3	ZMYND19, ARRDC1 +9 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576632	GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3	ANAPC2, ARRDC1 +28 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576631	GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3	ANAPC2, ARRDC1 +31 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576628	GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3	ANAPC2, ARRDC1 +33 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
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 2529037	NM_001256067.2(NOXA1):c.380A>G (p.Asn127Ser)	NOXA1 (N127S)	Single nucleotide variant (missense variant)	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 2510804	NM_001256067.2(NOXA1):c.425C>T (p.Ala142Val)	NOXA1 (A142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494876	NM_001256067.2(NOXA1):c.1282G>A (p.Val428Ile)	NOXA1 (V428I +1 more)	Single nucleotide variant (missense variant)	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 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 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 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425750	NC_000009.11:g.(?_140040158)_(141016451_?)del	DPH7, MRPL41 +28 more	Deletion	Intellectual disability, autosomal dominant 8 +1 more	GConflicting classifications of pathogenicity
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic
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
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 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 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 2374551	NM_001256067.2(NOXA1):c.193G>A (p.Val65Met)	NOXA1 (V65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357401	NM_001256067.2(NOXA1):c.1366G>C (p.Ala456Pro)	NOXA1 (A407P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355151	NM_001256067.2(NOXA1):c.1192C>G (p.Arg398Gly)	NOXA1 (R398G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2335997	NM_001256067.2(NOXA1):c.1366G>A (p.Ala456Thr)	NOXA1 (A407T +2 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 2279924	NM_001256067.2(NOXA1):c.1316G>A (p.Gly439Asp)	NOXA1 (G390D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232490	NM_001256067.2(NOXA1):c.1349A>T (p.Lys450Met)	NOXA1 (K457M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1527569	GRCh37/hg19 9q34.3(chr9:140230197-140893129)	ARRDC1, CACNA1B +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527564	GRCh37/hg19 9q34.3(chr9:138740078-141020389)	ABCA2, AGPAT2 +77 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	RNF208, RNF224 +68 more	Copy number loss	Coarctation of aorta +1 more	GPathogenic
Select item 997822	Single allele	NDOR1, DPP7 +45 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 986753	NC_000009.11:g.(?_139018777)_(141018984_?)del	LINC02908, LOC651337 +73 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	LCN12, LCN15 +77 more	Deletion	Kleefstra syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 830975	NC_000009.12:g.(?_137139467)_(137834973_?)del	ANAPC2, ARRDC1 +27 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	ABCA2, AGPAT2 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic

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