OR4S1[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 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 150629	GRCh38/hg38 11p11.2-11.12(chr11:47992987-49135735)x3	LOC111464990, LOC112081399 +18 more	Copy number gain	See cases	GUncertain significance
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 149097	GRCh38/hg38 11p11.2(chr11:48067028-48761561)x3	MIR3161, OR4A47 +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 151273	GRCh38/hg38 11p11.2(chr11:48110126-48623909)x3	OR4A47, OR4B1 +6 more	Copy number gain	See cases	GLikely benign
Select item 3205700	NM_001004725.1(OR4S1):c.5G>A (p.Gly2Asp)	OR4S1 (G2D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205694	NM_001004725.1(OR4S1):c.17A>G (p.Asn6Ser)	OR4S1 (N6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717246	NM_001004725.1(OR4S1):c.20T>C (p.Val7Ala)	OR4S1 (V7A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3205696	NM_001004725.1(OR4S1):c.23C>T (p.Thr8Ile)	OR4S1 (T8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710008	NM_001004725.1(OR4S1):c.60G>T (p.Glu20Asp)	OR4S1 (E20D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2541490	NM_001004725.1(OR4S1):c.166C>T (p.Pro56Ser)	OR4S1 (P56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205695	NM_001004725.1(OR4S1):c.226A>G (p.Ile76Val)	OR4S1 (I76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348481	NM_001004725.1(OR4S1):c.227T>C (p.Ile76Thr)	OR4S1 (I76T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240739	NM_001004725.1(OR4S1):c.268A>C (p.Ile90Leu)	OR4S1 (I90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302963	NM_001004725.1(OR4S1):c.272C>G (p.Ser91Cys)	OR4S1 (S91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720167	NM_001004725.1(OR4S1):c.324T>C (p.Thr108=)	OR4S1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3302959	NM_001004725.1(OR4S1):c.346A>G (p.Met116Val)	OR4S1 (M116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404899	NM_001004725.1(OR4S1):c.359G>A (p.Arg120His)	OR4S1 (R120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597163	NM_001004725.1(OR4S1):c.371T>C (p.Ile124Thr)	OR4S1 (I124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302964	NM_001004725.1(OR4S1):c.380C>A (p.Pro127His)	OR4S1 (P127H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460950	NM_001004725.1(OR4S1):c.380C>G (p.Pro127Arg)	OR4S1 (P127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522187	NM_001004725.1(OR4S1):c.428C>T (p.Ala143Val)	OR4S1 (A143V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369991	NM_001004725.1(OR4S1):c.484G>A (p.Val162Ile)	OR4S1 (V162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205698	NM_001004725.1(OR4S1):c.493C>T (p.Pro165Ser)	OR4S1 (P165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205699	NM_001004725.1(OR4S1):c.566A>G (p.Asp189Gly)	OR4S1 (D189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531638	NM_001004725.1(OR4S1):c.589G>T (p.Val197Leu)	OR4S1 (V197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331925	NM_001004725.1(OR4S1):c.637A>T (p.Ile213Phe)	OR4S1 (I213F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513084	NM_001004725.1(OR4S1):c.674G>A (p.Ser225Asn)	OR4S1 (S225N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610013	NM_001004725.1(OR4S1):c.689A>G (p.Asp230Gly)	OR4S1 (D230G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205701	NM_001004725.1(OR4S1):c.691C>T (p.Arg231Trp)	OR4S1 (R231W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205703	NM_001004725.1(OR4S1):c.692G>T (p.Arg231Leu)	OR4S1 (R231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205702	NM_001004725.1(OR4S1):c.692G>A (p.Arg231Gln)	OR4S1 (R231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524822	NM_001004725.1(OR4S1):c.723C>A (p.His241Gln)	OR4S1 (H241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623659	NM_001004725.1(OR4S1):c.736C>T (p.Leu246Phe)	OR4S1 (L246F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302960	NM_001004725.1(OR4S1):c.743T>A (p.Val248Asp)	OR4S1 (V248D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210809	NM_001004725.1(OR4S1):c.773G>A (p.Arg258His)	OR4S1 (R258H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341650	NM_001004725.1(OR4S1):c.805A>T (p.Ile269Phe)	OR4S1 (I269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509037	NM_001004725.1(OR4S1):c.811C>T (p.Leu271Phe)	OR4S1 (L271F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302962	NM_001004725.1(OR4S1):c.838C>G (p.Leu280Val)	OR4S1 (L280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334778	NM_001004725.1(OR4S1):c.844C>T (p.Pro282Ser)	OR4S1 (P282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302961	NM_001004725.1(OR4S1):c.896T>C (p.Leu299Pro)	OR4S1 (L299P)	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

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Items: 68