ClinVar for Gene (Select 138799) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302507	NM_001004482.1(OR13C5):c.626C>T (p.Thr209Ile)	OR13C5 (T209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204777	NM_001004482.1(OR13C5):c.798G>C (p.Glu266Asp)	OR13C5 (E266D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204776	NM_001004482.1(OR13C5):c.793C>A (p.Gln265Lys)	OR13C5 (Q265K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204775	NM_001004482.1(OR13C5):c.595C>A (p.Leu199Met)	OR13C5 (L199M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204774	NM_001004482.1(OR13C5):c.476A>C (p.Gln159Pro)	OR13C5 (Q159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204773	NM_001004482.1(OR13C5):c.395A>G (p.Tyr132Cys)	OR13C5 (Y132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2659355	NM_001004482.1(OR13C5):c.243G>T (p.Thr81=)	OR13C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2594105	NM_001004482.1(OR13C5):c.749C>T (p.Thr250Ile)	OR13C5 (T250I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592301	NM_001004482.1(OR13C5):c.769C>T (p.Leu257Phe)	OR13C5 (L257F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592300	NM_001004482.1(OR13C5):c.766T>C (p.Phe256Leu)	OR13C5 (F256L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592299	NM_001004482.1(OR13C5):c.755G>A (p.Cys252Tyr)	OR13C5 (C252Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588088	NM_001004482.1(OR13C5):c.656C>T (p.Thr219Met)	OR13C5 (T219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2531663	NM_001004482.1(OR13C5):c.815A>T (p.Asp272Val)	OR13C5 (D272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493416	NM_001004482.1(OR13C5):c.623T>C (p.Leu208Ser)	OR13C5 (L208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372630	NM_001004482.1(OR13C5):c.447G>C (p.Trp149Cys)	OR13C5 (W149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371395	NM_001004482.1(OR13C5):c.478A>T (p.Thr160Ser)	OR13C5 (T160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367570	NM_001004482.1(OR13C5):c.709C>G (p.Pro237Ala)	OR13C5 (P237A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363615	NM_001004482.1(OR13C5):c.667T>G (p.Leu223Val)	OR13C5 (L223V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2356267	NM_001004482.1(OR13C5):c.636A>C (p.Leu212Phe)	OR13C5 (L212F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356157	NM_001004482.1(OR13C5):c.731G>T (p.Arg244Leu)	OR13C5 (R244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349756	NM_001004482.1(OR13C5):c.731G>A (p.Arg244His)	OR13C5 (R244H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333026	NM_001004482.1(OR13C5):c.747A>G (p.Ile249Met)	OR13C5 (I249M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288998	NM_001004482.1(OR13C5):c.361G>C (p.Asp121His)	OR13C5 (D121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 778947	NM_001004482.1(OR13C5):c.686G>C (p.Ser229Thr)	OR13C5 (S229T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768317	NM_001004482.1(OR13C5):c.235C>T (p.Pro79Ser)	OR13C5 (P79S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768316	NM_001004482.1(OR13C5):c.246A>G (p.Leu82=)	OR13C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768315	NM_001004482.1(OR13C5):c.256C>G (p.Leu86Val)	OR13C5 (L86V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 403270	NM_001004482.1(OR13C5):c.243G>C (p.Thr81=)	OR13C5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 403269	NM_001004482.1(OR13C5):c.244C>T (p.Leu82=)	OR13C5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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
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 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 155197	GRCh38/hg38 9q31.1-31.2(chr9:104036284-105935181)x3	ABCA1, CT70 +58 more	Copy number gain	See cases	GUncertain significance
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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 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 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	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 146831	GRCh38/hg38 9q31.1(chr9:104300531-104730156)x3	LOC126860709, LOC126860710 +8 more	Copy number gain	See cases	GLikely benign
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 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 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 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	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 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 71