ClinVar for Gene (Select 392309) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302525	NM_001004487.1(OR13J1):c.322G>C (p.Gly108Arg)	OR13J1 (G108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302524	NM_001004487.1(OR13J1):c.424G>A (p.Val142Met)	OR13J1 (V142M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302523	NM_001004487.1(OR13J1):c.293C>T (p.Ala98Val)	OR13J1 (A98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302522	NM_001004487.1(OR13J1):c.172C>T (p.Pro58Ser)	OR13J1 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302521	NM_001004487.1(OR13J1):c.523A>C (p.Ser175Arg)	OR13J1 (S175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302520	NM_001004487.1(OR13J1):c.602C>T (p.Ala201Val)	OR13J1 (A201V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3302519	NM_001004487.1(OR13J1):c.415C>T (p.Arg139Trp)	OR13J1 (R139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3204814	NM_001004487.1(OR13J1):c.757G>A (p.Gly253Ser)	OR13J1 (G253S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204813	NM_001004487.1(OR13J1):c.565T>A (p.Cys189Ser)	OR13J1 (C189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204812	NM_001004487.1(OR13J1):c.406A>T (p.Met136Leu)	OR13J1 (M136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204811	NM_001004487.1(OR13J1):c.320C>T (p.Thr107Met)	OR13J1 (T107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
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 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2622983	NM_001004487.1(OR13J1):c.575C>A (p.Thr192Lys)	OR13J1 (T192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614484	NM_001004487.1(OR13J1):c.397C>T (p.His133Tyr)	OR13J1 (H133Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588915	NM_001004487.1(OR13J1):c.499C>T (p.Pro167Ser)	OR13J1 (P167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546777	NM_001004487.1(OR13J1):c.514C>T (p.His172Tyr)	OR13J1 (H172Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484291	NM_001004487.1(OR13J1):c.379T>G (p.Cys127Gly)	OR13J1 (C127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484290	NM_001004487.1(OR13J1):c.378C>G (p.Ile126Met)	OR13J1 (I126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471056	NM_001004487.1(OR13J1):c.247G>A (p.Val83Ile)	OR13J1 (V83I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470395	NM_001004487.1(OR13J1):c.203C>T (p.Thr68Ile)	OR13J1 (T68I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	RGP1, RMRP +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 2390612	NM_001004487.1(OR13J1):c.694G>A (p.Ala232Thr)	OR13J1 (A232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388445	NM_001004487.1(OR13J1):c.929C>T (p.Ala310Val)	OR13J1 (A310V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374328	NM_001004487.1(OR13J1):c.578C>T (p.Ser193Leu)	OR13J1 (S193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368700	NM_001004487.1(OR13J1):c.901G>A (p.Ala301Thr)	OR13J1 (A301T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324491	NM_001004487.1(OR13J1):c.858C>A (p.Asn286Lys)	OR13J1 (N286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314876	NM_001004487.1(OR13J1):c.170C>A (p.Thr57Lys)	OR13J1 (T57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308764	NM_001004487.1(OR13J1):c.106C>A (p.Leu36Met)	OR13J1 (L36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282040	NM_001004487.1(OR13J1):c.127A>G (p.Thr43Ala)	OR13J1 (T43A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274957	NM_001004487.1(OR13J1):c.416G>A (p.Arg139Gln)	OR13J1 (R139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264930	NM_001004487.1(OR13J1):c.213C>G (p.Ile71Met)	OR13J1 (I71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260363	NM_001004487.1(OR13J1):c.800C>A (p.Ala267Asp)	OR13J1 (A267D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252821	NM_001004487.1(OR13J1):c.101T>C (p.Met34Thr)	OR13J1 (M34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248781	NM_001004487.1(OR13J1):c.266G>A (p.Arg89Gln)	OR13J1 (R89Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237429	NM_001004487.1(OR13J1):c.109G>A (p.Val37Met)	OR13J1 (V37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228493	NM_001004487.1(OR13J1):c.359A>G (p.Tyr120Cys)	OR13J1 (Y120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218412	NM_001004487.1(OR13J1):c.175G>A (p.Val59Met)	OR13J1 (V59M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	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 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1210154	GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	ARHGEF39, ATOSB +42 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1070621	NC_000009.11:g.(?_34459004)_(36276941_?)del	ARHGEF39, ARID3C +48 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 1041826	NC_000009.11:g.(?_35683146)_(36277049_?)dup	GBA2, GLIPR2 +17 more	Duplication	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 689135	GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	ALDH1B1, ANKRD18A +74 more	Copy number gain	not provided	GPathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 584345	NC_000009.11:g.(?_34458984)_(36277059_?)dup	ARHGEF39, ARID3C +48 more	Duplication	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 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 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 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 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 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 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic

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