ClinVar for Gene (Select 119764) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302980	NM_001004727.1(OR4X2):c.463A>G (p.Ile155Val)	OR4X2 (I155V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3302979	NM_001004727.1(OR4X2):c.605G>T (p.Ser202Ile)	OR4X2 (S202I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302978	NM_001004727.1(OR4X2):c.541T>C (p.Cys181Arg)	OR4X2 (C181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302977	NM_001004727.1(OR4X2):c.19C>G (p.Leu7Val)	OR4X2 (L7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302976	NM_001004727.1(OR4X2):c.227A>G (p.Asp76Gly)	OR4X2 (D76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302975	NM_001004727.1(OR4X2):c.905A>T (p.Glu302Val)	OR4X2 (E302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302974	NM_001004727.1(OR4X2):c.77T>G (p.Leu26Trp)	OR4X2 (L26W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302973	NM_001004727.1(OR4X2):c.337G>A (p.Asp113Asn)	OR4X2 (D113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302972	NM_001004727.1(OR4X2):c.605G>C (p.Ser202Thr)	OR4X2 (S202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302971	NM_001004727.1(OR4X2):c.187A>C (p.Ile63Leu)	OR4X2 (I63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205738	NM_001004727.1(OR4X2):c.875G>A (p.Arg292Lys)	OR4X2 (R292K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205737	NM_001004727.1(OR4X2):c.86C>T (p.Ala29Val)	OR4X2 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205736	NM_001004727.1(OR4X2):c.786G>T (p.Met262Ile)	OR4X2 (M262I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205734	NM_001004727.1(OR4X2):c.59T>C (p.Phe20Ser)	OR4X2 (F20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205733	NM_001004727.1(OR4X2):c.598G>T (p.Val200Leu)	OR4X2 (V200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205732	NM_001004727.1(OR4X2):c.578C>T (p.Ala193Val)	OR4X2 (A193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205731	NM_001004727.1(OR4X2):c.556C>T (p.Leu186Phe)	OR4X2 (L186F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205730	NM_001004727.1(OR4X2):c.51G>T (p.Arg17Ser)	OR4X2 (R17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205729	NM_001004727.1(OR4X2):c.502C>A (p.His168Asn)	OR4X2 (H168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205728	NM_001004727.1(OR4X2):c.440A>C (p.His147Pro)	OR4X2 (H147P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205727	NM_001004727.1(OR4X2):c.374C>G (p.Thr125Ser)	OR4X2 (T125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205726	NM_001004727.1(OR4X2):c.197C>A (p.Ser66Tyr)	OR4X2 (S66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205725	NM_001004727.1(OR4X2):c.194A>G (p.Tyr65Cys)	OR4X2 (Y65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622691	NM_001004727.1(OR4X2):c.289C>T (p.His97Tyr)	OR4X2 (H97Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621901	NM_001004727.1(OR4X2):c.112G>C (p.Val38Leu)	OR4X2 (V38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609196	NM_001004727.1(OR4X2):c.798C>G (p.Phe266Leu)	OR4X2 (F266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593257	NM_001004727.1(OR4X2):c.134G>T (p.Arg45Ile)	OR4X2 (R45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587996	NM_001004727.1(OR4X2):c.726C>A (p.Phe242Leu)	OR4X2 (F242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550128	NM_001004727.1(OR4X2):c.610G>C (p.Gly204Arg)	OR4X2 (G204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539733	NM_001004727.1(OR4X2):c.218T>C (p.Leu73Pro)	OR4X2 (L73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531325	NM_001004727.1(OR4X2):c.592C>G (p.Leu198Val)	OR4X2 (L198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515944	NM_001004727.1(OR4X2):c.209C>T (p.Ala70Val)	OR4X2 (A70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492247	NM_001004727.1(OR4X2):c.500A>G (p.Asn167Ser)	OR4X2 (N167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486141	NM_001004727.1(OR4X2):c.577G>A (p.Ala193Thr)	OR4X2 (A193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479359	NM_001004727.1(OR4X2):c.746A>G (p.Asn249Ser)	OR4X2 (N249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465139	NM_001004727.1(OR4X2):c.875G>C (p.Arg292Thr)	OR4X2 (R292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403116	NM_001004727.1(OR4X2):c.629A>T (p.Tyr210Phe)	OR4X2 (Y210F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369139	NM_001004727.1(OR4X2):c.487C>A (p.Pro163Thr)	OR4X2 (P163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334723	NM_001004727.1(OR4X2):c.355T>A (p.Cys119Ser)	OR4X2 (C119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316167	NM_001004727.1(OR4X2):c.449C>T (p.Ala150Val)	OR4X2 (A150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309700	NM_001004727.1(OR4X2):c.626C>A (p.Ser209Tyr)	OR4X2 (S209Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299140	NM_001004727.1(OR4X2):c.368G>T (p.Ser123Ile)	OR4X2 (S123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298348	NM_001004727.1(OR4X2):c.559A>G (p.Ile187Val)	OR4X2 (I187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237776	NM_001004727.1(OR4X2):c.443C>T (p.Ser148Phe)	OR4X2 (S148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214882	NM_001004727.1(OR4X2):c.59T>G (p.Phe20Cys)	OR4X2 (F20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809063	GRCh37/hg19 11p11.2(chr11:48136888-48373316)x1	OR4B1, OR4C3 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808314	GRCh37/hg19 11p11.2(chr11:48144224-48640722)x3	OR4A47, OR4B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527642	GRCh37/hg19 11p11.2-11.12(chr11:47711244-48976284)	AGBL2, FNBP4 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1340558	GRCh37/hg19 11p11.2(chr11:48072297-48658135)x3	OR4A47, OR4B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979919	GRCh37/hg19 11p11.2-11.12(chr11:48242702-49562051)x3	TRIM49B, OR4C3 +6 more	Copy number gain	not provided	GLikely benign
Select item 979914	GRCh37/hg19 11p11.2(chr11:48247992-48664038)x3	OR4X1, OR4X2 +3 more	Copy number gain	not provided	GLikely benign
Select item 563867	GRCh37/hg19 11p11.2-11.12(chr11:47720039-48891877)x3	OR4S1, NUP160 +8 more	Copy number gain	not provided	GLikely benign
Select item 563864	GRCh37/hg19 11p11.2-11.12(chr11:48116066-49170890)x3	OR4X1, TRIM49B +8 more	Copy number gain	not provided	GLikely benign
Select item 563861	GRCh37/hg19 11p11.2-11.12(chr11:48065950-48893177)x3	OR4S1, OR4B1 +5 more	Copy number gain	not provided	GLikely benign
Select item 563855	GRCh37/hg19 11p11.2(chr11:47773563-48403235)x3	OR4B1, OR4C3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443849	GRCh37/hg19 11p11.2-11.12(chr11:48095885-48913631)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GLikely benign
Select item 443530	GRCh37/hg19 11p11.2-11.12(chr11:48149532-49434855)x3	FOLH1, OR4A47 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442669	GRCh37/hg19 11p11.2-11.12(chr11:48087005-48925590)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GLikely benign
Select item 442625	GRCh37/hg19 11p11.2-11.12(chr11:48086949-48925789)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GLikely benign
Select item 442349	GRCh37/hg19 11p11.2-11.12(chr11:48116086-48913631)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GLikely benign
Select item 442312	GRCh37/hg19 11p11.2(chr11:48007046-48721752)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442286	GRCh37/hg19 11p11.2-11.12(chr11:47748831-48985791)x3	OR4X2, PTPRJ +7 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 393989	GRCh37/hg19 11p11.2(chr11:48044621-48588884)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GLikely benign
Select item 151273	GRCh38/hg38 11p11.2(chr11:48110126-48623909)x3	OR4A47, OR4B1 +6 more	Copy number gain	See cases	GLikely benign
Select item 150629	GRCh38/hg38 11p11.2-11.12(chr11:47992987-49135735)x3	LOC111464990, LOC112081399 +18 more	Copy number gain	See cases	GUncertain significance
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 149097	GRCh38/hg38 11p11.2(chr11:48067028-48761561)x3	MIR3161, OR4A47 +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 148872	GRCh38/hg38 11p11.2(chr11:47992987-48761561)x3	OR4A47, OR4B1 +15 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 58161	GRCh38/hg38 11p11.2(chr11:47743903-48643003)x3	FNBP4, LOC111464990 +29 more	Copy number gain	See cases	GUncertain significance
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 77