OR13C4[gene] - ClinVar

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Items: 64

	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 3302505	NM_001001919.1(OR13C4):c.926A>G (p.Tyr309Cys)	OR13C4 (Y309C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299624	NM_001001919.1(OR13C4):c.863C>A (p.Thr288Asn)	OR13C4 (T288N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204772	NM_001001919.1(OR13C4):c.845T>C (p.Met282Thr)	OR13C4 (M282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204771	NM_001001919.1(OR13C4):c.835C>A (p.Leu279Ile)	OR13C4 (L279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310737	NM_001001919.1(OR13C4):c.816C>G (p.Asn272Lys)	OR13C4 (N272K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204770	NM_001001919.1(OR13C4):c.725C>T (p.Ser242Leu)	OR13C4 (S242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320538	NM_001001919.1(OR13C4):c.689C>T (p.Ser230Leu)	OR13C4 (S230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397984	NM_001001919.1(OR13C4):c.683C>T (p.Thr228Met)	OR13C4 (T228M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2486863	NM_001001919.1(OR13C4):c.649T>C (p.Ser217Pro)	OR13C4 (S217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277783	NM_001001919.1(OR13C4):c.632T>C (p.Leu211Pro)	OR13C4 (L211P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302503	NM_001001919.1(OR13C4):c.584A>C (p.Asn195Thr)	OR13C4 (N195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204768	NM_001001919.1(OR13C4):c.404T>A (p.Ile135Asn)	OR13C4 (I135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204767	NM_001001919.1(OR13C4):c.368A>G (p.Tyr123Cys)	OR13C4 (Y123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250024	NM_001001919.1(OR13C4):c.232A>G (p.Ile78Val)	OR13C4 (I78V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204766	NM_001001919.1(OR13C4):c.226T>A (p.Ser76Thr)	OR13C4 (S76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204765	NM_001001919.1(OR13C4):c.196C>T (p.Leu66Phe)	OR13C4 (L66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466381	NM_001001919.1(OR13C4):c.172C>T (p.Pro58Ser)	OR13C4 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344655	NM_001001919.1(OR13C4):c.161G>A (p.Arg54His)	OR13C4 (R54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345665	NM_001001919.1(OR13C4):c.160C>T (p.Arg54Cys)	OR13C4 (R54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302504	NM_001001919.1(OR13C4):c.120T>G (p.Ile40Met)	OR13C4 (I40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204764	NM_001001919.1(OR13C4):c.119T>C (p.Ile40Thr)	OR13C4 (I40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204769	NM_001001919.1(OR13C4):c.59A>G (p.Tyr20Cys)	OR13C4 (Y20C)	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 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: 64