OR13C3[gene] - ClinVar

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Items: 67

	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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-Kruszka syndrome	GPathogenic
Select item 146243	GRCh38/hg38 9q31.1(chr9:103006145-105161449)x1	ABCA1, CT70 +41 more	Copy number loss	See cases	GUncertain significance
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 155197	GRCh38/hg38 9q31.1-31.2(chr9:104036284-105935181)x3	ABCA1, CT70 +58 more	Copy number gain	See cases	GUncertain significance
Select item 146831	GRCh38/hg38 9q31.1(chr9:104300531-104730156)x3	LOC126860709, LOC126860710 +8 more	Copy number gain	See cases	GLikely benign
Select item 2557959	NM_001001961.3(OR13C3):c.938A>G (p.Lys313Arg)	OR13C3 (K313R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204763	NM_001001961.3(OR13C3):c.906T>G (p.Asp302Glu)	OR13C3 (D302E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302502	NM_001001961.3(OR13C3):c.883C>T (p.Leu295Phe)	OR13C3 (L295F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236384	NM_001001961.3(OR13C3):c.835C>T (p.Leu279Phe)	OR13C3 (L279F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529507	NM_001001961.3(OR13C3):c.827T>C (p.Leu276Ser)	OR13C3 (L276S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2478594	NM_001001961.3(OR13C3):c.806G>C (p.Gly269Ala)	OR13C3 (G269A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204761	NM_001001961.3(OR13C3):c.785C>T (p.Pro262Leu)	OR13C3 (P262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511164	NM_001001961.3(OR13C3):c.779C>T (p.Ala260Val)	OR13C3 (A260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595134	NM_001001961.3(OR13C3):c.703C>T (p.Arg235Cys)	OR13C3 (R235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204760	NM_001001961.3(OR13C3):c.653A>G (p.Tyr218Cys)	OR13C3 (Y218C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494805	NM_001001961.3(OR13C3):c.587T>C (p.Ile196Thr)	OR13C3 (I196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368078	NM_001001961.3(OR13C3):c.527A>G (p.His176Arg)	OR13C3 (H176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204759	NM_001001961.3(OR13C3):c.493A>G (p.Arg165Gly)	OR13C3 (R165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343900	NM_001001961.3(OR13C3):c.349A>G (p.Met117Val)	OR13C3 (M117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204757	NM_001001961.3(OR13C3):c.299A>G (p.Gln100Arg)	OR13C3 (Q100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529516	NM_001001961.3(OR13C3):c.163T>C (p.Phe55Leu)	OR13C3 (F55L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204756	NM_001001961.3(OR13C3):c.106C>G (p.Leu36Val)	OR13C3 (L36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366490	NM_001001961.3(OR13C3):c.104A>G (p.Tyr35Cys)	OR13C3 (Y35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511163	NM_001001961.3(OR13C3):c.89T>C (p.Leu30Pro)	OR13C3 (L30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307573	NM_001001961.3(OR13C3):c.20C>T (p.Thr7Ile)	OR13C3 (T7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285776	NM_001001961.3(OR13C3):c.17A>T (p.Gln6Leu)	OR13C3 (Q6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293071	NM_001001961.3(OR13C3):c.11T>C (p.Ile4Thr)	OR13C3 (I4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204762	NM_001001961.3(OR13C3):c.-1C>A	OR13C3	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2400144	NM_001001961.3(OR13C3):c.-47A>G	OR13C3	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2522592	NM_001001961.3(OR13C3):c.-66G>A	OR13C3	Single nucleotide variant (5 prime UTR 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 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 1807983	GRCh37/hg19 9q31.1(chr9:106173402-107431515)x1	OR13C2, OR13C3 +6 more	Copy number loss	not provided	GUncertain significance
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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341248	GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3	ABCA1, ALDOB +34 more	Copy number gain	not provided	GUncertain significance
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 688209	GRCh37/hg19 9q31.1(chr9:106618735-107897515)x3	ABCA1, NIPSNAP3A +10 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 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 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	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 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	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

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Items: 67