ClinVar for Gene (Select 79290) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302500	NM_001004297.3(OR13A1):c.209A>G (p.Asn70Ser)	OR13A1 (N70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302499	NM_001004297.3(OR13A1):c.481G>A (p.Gly161Arg)	OR13A1 (G161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302498	NM_001004297.3(OR13A1):c.496G>T (p.Val166Leu)	OR13A1 (V166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302497	NM_001004297.3(OR13A1):c.91A>G (p.Ile31Val)	OR13A1 (I31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204751	NM_001004297.3(OR13A1):c.730C>G (p.Leu244Val)	OR13A1 (L244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204750	NM_001004297.3(OR13A1):c.669C>A (p.Phe223Leu)	OR13A1 (F223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204749	NM_001004297.3(OR13A1):c.659C>A (p.Ala220Glu)	OR13A1 (A220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204748	NM_001004297.3(OR13A1):c.223G>A (p.Ala75Thr)	OR13A1 (A75T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204747	NM_001004297.3(OR13A1):c.16G>A (p.Glu6Lys)	OR13A1 (E6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204745	NM_001004297.3(OR13A1):c.158A>C (p.Tyr53Ser)	OR13A1 (Y53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640423	NM_001004297.3(OR13A1):c.915C>T (p.Pro305=)	OR13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617499	NM_001004297.3(OR13A1):c.491C>T (p.Thr164Ile)	OR13A1 (T164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603813	NM_001004297.3(OR13A1):c.542T>A (p.Met181Lys)	OR13A1 (M181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595342	NM_001004297.3(OR13A1):c.311T>G (p.Val104Gly)	OR13A1 (V104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594392	NM_001004297.3(OR13A1):c.341G>T (p.Gly114Val)	OR13A1 (G114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2568796	NM_001004297.3(OR13A1):c.58A>T (p.Met20Leu)	OR13A1 (M20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539052	NM_001004297.3(OR13A1):c.185T>C (p.Leu62Pro)	OR13A1 (L62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537387	NM_001004297.3(OR13A1):c.817G>A (p.Val273Ile)	OR13A1 (V273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522336	NM_001004297.3(OR13A1):c.169C>G (p.Leu57Val)	OR13A1 (L57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520614	NM_001004297.3(OR13A1):c.569A>G (p.Asn190Ser)	OR13A1 (N190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513918	NM_001004297.3(OR13A1):c.814G>A (p.Ala272Thr)	OR13A1 (A272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512248	NM_001004297.3(OR13A1):c.229A>G (p.Met77Val)	OR13A1 (M77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511289	NM_001004297.3(OR13A1):c.938A>G (p.Lys313Arg)	OR13A1 (K313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496524	NM_001004297.3(OR13A1):c.519C>A (p.Asn173Lys)	OR13A1 (N173K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462312	NM_001004297.3(OR13A1):c.772A>G (p.Thr258Ala)	OR13A1 (T258A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377070	NM_001004297.3(OR13A1):c.827C>T (p.Ala276Val)	OR13A1 (A276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371151	NM_001004297.3(OR13A1):c.478A>G (p.Ser160Gly)	OR13A1 (S160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363699	NM_001004297.3(OR13A1):c.866G>A (p.Ser289Asn)	OR13A1 (S289N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329276	NM_001004297.3(OR13A1):c.7C>A (p.Leu3Met)	OR13A1 (L3M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327985	NM_001004297.3(OR13A1):c.559T>G (p.Cys187Gly)	OR13A1 (C187G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325921	NM_001004297.3(OR13A1):c.707A>G (p.Tyr236Cys)	OR13A1 (Y236C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314342	NM_001004297.3(OR13A1):c.29T>A (p.Ile10Lys)	OR13A1 (I10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289449	NM_001004297.3(OR13A1):c.736G>T (p.Val246Leu)	OR13A1 (V246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254772	NM_001004297.3(OR13A1):c.782C>T (p.Ser261Phe)	OR13A1 (S261F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 988609	GRCh37/hg19 10q11.21(chr10:45822136-46004831)x3	ALOX5, MARCHF8 +1 more	Copy number gain	See cases	GUncertain significance
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 443043	GRCh37/hg19 10q11.21-11.22(chr10:45618211-46293591)x3	ALOX5, MARCHF8 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 152819	GRCh38/hg38 10q11.21-11.22(chr10:45247429-45768908)x3	ALOX5, LOC102724323 +14 more	Copy number gain	See cases	GLikely benign
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 53