ClinVar for Gene (Select 391189) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3204735	NM_001001959.1(OR11L1):c.937T>C (p.Trp313Arg)	OR11L1 (W313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204734	NM_001001959.1(OR11L1):c.926G>A (p.Cys309Tyr)	OR11L1 (C309Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204732	NM_001001959.1(OR11L1):c.558G>C (p.Gln186His)	OR11L1 (Q186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204731	NM_001001959.1(OR11L1):c.413G>A (p.Arg138His)	OR11L1 (R138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204730	NM_001001959.1(OR11L1):c.269A>C (p.Gln90Pro)	OR11L1 (Q90P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204728	NM_001001959.1(OR11L1):c.142G>A (p.Val48Met)	OR11L1 (V48M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148935	GRCh37/hg19 1q44(chr1:246765135-249224684)x1	AHCTF1, CNST +55 more	Copy number loss	not provided	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685987	GRCh37/hg19 1q44(chr1:247755802-248142441)x1	OR2L13, OR2G3 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2685965	GRCh37/hg19 1q44(chr1:246983973-249224684)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2597217	NM_001001959.1(OR11L1):c.634T>C (p.Phe212Leu)	OR11L1 (F212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	LINC01743, LINC02774 +235 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2521566	NM_001001959.1(OR11L1):c.553A>C (p.Met185Leu)	OR11L1 (M185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512458	NM_001001959.1(OR11L1):c.736G>A (p.Ala246Thr)	OR11L1 (A246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 2472238	NM_001001959.1(OR11L1):c.313G>A (p.Val105Ile)	OR11L1 (V105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390888	NM_001001959.1(OR11L1):c.824C>G (p.Ser275Cys)	OR11L1 (S275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375924	NM_001001959.1(OR11L1):c.719C>A (p.Thr240Lys)	OR11L1 (T240K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320959	NM_001001959.1(OR11L1):c.525C>A (p.Asn175Lys)	OR11L1 (N175K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277469	NM_001001959.1(OR11L1):c.959T>C (p.Phe320Ser)	OR11L1 (F320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269177	NM_001001959.1(OR11L1):c.616G>A (p.Val206Met)	OR11L1 (V206M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246592	NM_001001959.1(OR11L1):c.161G>T (p.Arg54Leu)	OR11L1 (R54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219475	NM_001001959.1(OR11L1):c.392G>A (p.Arg131His)	OR11L1 (R131H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214627	NM_001001959.1(OR11L1):c.331G>A (p.Glu111Lys)	OR11L1 (E111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1808196	GRCh37/hg19 1q44(chr1:247588318-248022379)x3	GCSAML, NLRP3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1710923	GRCh37/hg19 1q44(chr1:246850401-249205263)x3	AHCTF1, GCSAML +54 more	Copy number gain	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1411294	NC_000001.10:g.(?_247599252)_(248059833_?)dup	GCSAML, NLRP3 +11 more	Duplication	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1328437	GRCh37/hg19 1q44(chr1:246820858-249213969)x3	AHCTF1, CNST +55 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 980425	GRCh37/hg19 1q44(chr1:246853199-249181899)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GLikely pathogenic
Select item 980423	GRCh37/hg19 1q44(chr1:247942967-248013430)x1	OR14A16, OR11L1	Copy number loss	not provided	GLikely benign
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 688456	GRCh37/hg19 1q44(chr1:247576587-248688602)x4	GCSAML, NLRP3 +33 more	Copy number gain	not provided	GUncertain significance
Select item 687454	GRCh37/hg19 1q44(chr1:246565044-249224684)x1	AHCTF1, CNST +57 more	Copy number loss	not provided	GPathogenic
Select item 685533	GRCh37/hg19 1q44(chr1:247032527-248071583)x3	AHCTF1, GCSAML +19 more	Copy number gain	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685153	GRCh37/hg19 1q44(chr1:244379481-249224684)x1	ADSS2, AHCTF1 +65 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 635895	Single allele	OR11L1, OR14A16 +22 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625535	GRCh37/hg19 1q44(chr1:245341153-249212429)	AHCTF1, CNST +58 more	Copy number loss	not provided	GLikely pathogenic
Select item 565257	GRCh37/hg19 1q44(chr1:247846257-249224684)x1	LYPD8, OR11L1 +38 more	Copy number loss	not provided	GUncertain significance
Select item 565250	GRCh37/hg19 1q44(chr1:244797639-249224684)x1	AHCTF1, CATSPERE +63 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 443568	GRCh37/hg19 1q44(chr1:246753355-249224684)x3	AHCTF1, CNST +55 more	Copy number gain	See cases	GUncertain significance
Select item 443102	GRCh37/hg19 1q44(chr1:244197791-249224684)x4	ADSS2, AHCTF1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	See cases	GPathogenic
Select item 441889	GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4	ADSS2, AHCTF1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 395294	GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3	ADSS2, CATSPERE +70 more	Copy number gain	See cases	GPathogenic
Select item 394442	GRCh37/hg19 1q44(chr1:247962269-248260734)x3	OR11L1, OR14A16 +9 more	Copy number gain	See cases	GBenign
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 253547	GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1	OR2L2, OR2L8 +66 more	Copy number loss	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 154696	GRCh38/hg38 1q44(chr1:247404783-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 154541	GRCh38/hg38 1q44(chr1:247716624-248114768)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +282 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 152683	GRCh38/hg38 1q44(chr1:247671583-248317448)x3	LOC115804254, LOC126806088 +25 more	Copy number gain	See cases	GBenign
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +243 more	Copy number loss	See cases	GPathogenic
Select item 150353	GRCh38/hg38 1q44(chr1:247682929-248521590)x3	LOC115804254, LOC126806088 +36 more	Copy number gain	See cases	GBenign
Select item 150051	GRCh38/hg38 1q44(chr1:247682929-248622297)x3	LOC115804254, LOC126806088 +39 more	Copy number gain	See cases	GBenign
Select item 149799	GRCh38/hg38 1q44(chr1:247613235-248521590)x3	LOC102724446, LOC115804254 +39 more	Copy number gain	See cases	GBenign
Select item 149015	GRCh38/hg38 1q44(chr1:247798967-248376495)x1	LOC115804254, LOC126806088 +23 more	Copy number loss	See cases	GLikely benign
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	LOC110121264, LOC110121265 +301 more	Copy number loss	See cases	GPathogenic
Select item 148292	GRCh38/hg38 1q44(chr1:247389261-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GLikely benign
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +272 more	Copy number loss	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +230 more	Copy number gain	See cases	GPathogenic
Select item 147939	GRCh38/hg38 1q44(chr1:247682931-248093562)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 147276	GRCh38/hg38 1q44(chr1:247798967-248521608)x3	LOC115804254, LOC126806088 +31 more	Copy number gain	See cases	GBenign
Select item 146773	GRCh38/hg38 1q44(chr1:247682929-248093696)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 146611	GRCh38/hg38 1q44(chr1:247532391-247897117)x3	GCSAML, LOC102724446 +17 more	Copy number gain	See cases	GBenign
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +202 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +168 more	Copy number gain	See cases	GPathogenic
Select item 144301	GRCh38/hg38 1q44(chr1:247613108-248093562)x3	LOC102724446, LOC115804254 +20 more	Copy number gain	See cases	GBenign
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	LOC129932945, LOC129932946 +226 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	LOC129932958, LOC129932959 +253 more	Copy number loss	See cases	GPathogenic

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