ClinVar for Gene (Select 219429) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302846	NM_001004700.3(OR4C11):c.780G>A (p.Pro260=)	OR4C11	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3302845	NM_001004700.3(OR4C11):c.499T>C (p.Cys167Arg)	OR4C11 (C167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302844	NM_001004700.3(OR4C11):c.409C>A (p.Gln137Lys)	OR4C11 (Q137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302843	NM_001004700.3(OR4C11):c.131T>C (p.Ile44Thr)	OR4C11 (I44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302842	NM_001004700.3(OR4C11):c.167C>T (p.Pro56Leu)	OR4C11 (P56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205429	NM_001004700.3(OR4C11):c.73G>A (p.Val25Met)	OR4C11 (V25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205428	NM_001004700.3(OR4C11):c.662A>G (p.His221Arg)	OR4C11 (H221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205427	NM_001004700.3(OR4C11):c.63G>T (p.Arg21Ser)	OR4C11 (R21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205426	NM_001004700.3(OR4C11):c.613T>G (p.Cys205Gly)	OR4C11 (C205G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205425	NM_001004700.3(OR4C11):c.610A>G (p.Ile204Val)	OR4C11 (I204V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205424	NM_001004700.3(OR4C11):c.582C>G (p.Asn194Lys)	OR4C11 (N194K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205423	NM_001004700.3(OR4C11):c.498C>A (p.Phe166Leu)	OR4C11 (F166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205422	NM_001004700.3(OR4C11):c.31A>G (p.Ile11Val)	OR4C11 (I11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205421	NM_001004700.3(OR4C11):c.248C>T (p.Ala83Val)	OR4C11 (A83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2608508	NM_001004700.3(OR4C11):c.639A>G (p.Ile213Met)	OR4C11 (I213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592960	NM_001004700.3(OR4C11):c.170T>A (p.Met57Lys)	OR4C11 (M57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517304	NM_001004700.3(OR4C11):c.169A>G (p.Met57Val)	OR4C11 (M57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485703	NM_001004700.3(OR4C11):c.830C>A (p.Thr277Lys)	OR4C11 (T277K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477702	NM_001004700.3(OR4C11):c.247G>T (p.Ala83Ser)	OR4C11 (A83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472452	NM_001004700.3(OR4C11):c.177C>G (p.Phe59Leu)	OR4C11 (F59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472451	NM_001004700.3(OR4C11):c.151C>T (p.Arg51Trp)	OR4C11 (R51W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470940	NM_001004700.3(OR4C11):c.830C>T (p.Thr277Ile)	OR4C11 (T277I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461539	NM_001004700.3(OR4C11):c.568A>G (p.Thr190Ala)	OR4C11 (T190A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404012	NM_001004700.3(OR4C11):c.402G>A (p.Met134Ile)	OR4C11 (M134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399853	NM_001004700.3(OR4C11):c.209G>A (p.Cys70Tyr)	OR4C11 (C70Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343529	NM_001004700.3(OR4C11):c.776C>A (p.Pro259His)	OR4C11 (P259H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318773	NM_001004700.3(OR4C11):c.368C>G (p.Ala123Gly)	OR4C11 (A123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311416	NM_001004700.3(OR4C11):c.801G>T (p.Lys267Asn)	OR4C11 (K267N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296425	NM_001004700.3(OR4C11):c.27A>T (p.Glu9Asp)	OR4C11 (E9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268380	NM_001004700.3(OR4C11):c.128T>A (p.Ile43Asn)	OR4C11 (I43N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266499	NM_001004700.3(OR4C11):c.542C>A (p.Pro181His)	OR4C11 (P181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259141	NM_001004700.3(OR4C11):c.433C>T (p.Leu145Phe)	OR4C11 (L145F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255294	NM_001004700.3(OR4C11):c.523T>C (p.Tyr175His)	OR4C11 (Y175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251744	NM_001004700.3(OR4C11):c.506C>A (p.Pro169His)	OR4C11 (P169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249942	NM_001004700.3(OR4C11):c.928G>A (p.Gly310Arg)	OR4C11 (G310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206857	NM_001004700.3(OR4C11):c.779C>T (p.Pro260Leu)	OR4C11 (P260L)	Single nucleotide variant (missense variant)	not specified	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 1340449	GRCh37/hg19 11p11.12-q12.1(chr11:51164494-56879839)x3	OR10AG1, OR4A15 +47 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 442071	GRCh37/hg19 11p11.12-q12.1(chr11:51183548-56977098)x3	LRRC55, OR10AG1 +48 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 395409	GRCh37/hg19 11q11-12.1(chr11:55033164-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign
Select item 395111	GRCh37/hg19 11q11-12.1(chr11:55029738-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign
Select item 221739	GRCh38/hg38 11q11(chr11:55354862-55683570)x0	OR4C11, OR4C15 +5 more	Copy number loss	Premature ovarian failure	GBenign
Select item 161063	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 150075	GRCh38/hg38 11q11(chr11:55522385-55728510)x3	OR4C11, OR4C15 +5 more	Copy number gain	See cases	GLikely benign
Select item 149810	GRCh38/hg38 11q11(chr11:55570224-55683419)x3	OR4C11, OR4C16 +3 more	Copy number gain	See cases	GLikely benign
Select item 149770	GRCh38/hg38 11q11-12.1(chr11:55316591-55855055)x3	OR4A15, OR4A16 +13 more	Copy number gain	See cases	GLikely benign
Select item 147181	GRCh38/hg38 11q11(chr11:55600886-55671230)x3	OR4C11, OR4C6 +2 more	Copy number gain	See cases	GBenign
Select item 147045	GRCh38/hg38 11q11(chr11:55600886-55683282)x1	OR4C11, OR4C6 +2 more	Copy number loss	See cases	GBenign
Select item 147044	GRCh38/hg38 11q11(chr11:55600886-55683282)x3	OR4C11, OR4C6 +2 more	Copy number gain	See cases	GBenign
Select item 147042	GRCh38/hg38 11q11(chr11:55600886-55683282)x0	OR4C11, OR4C6 +2 more	Copy number loss	See cases	GBenign
Select item 146146	GRCh38/hg38 11q11(chr11:55600678-55792684)x1	OR4C11, OR4C6 +4 more	Copy number loss	See cases	GBenign
Select item 145000	GRCh38/hg38 11q11-12.1(chr11:55265785-56230226)x3	LOC126861207, OR10AG1 +28 more	Copy number gain	See cases	GBenign
Select item 57245	GRCh38/hg38 11q11-12.1(chr11:55445689-57114783)x1	LINC02735, LOC126861207 +50 more	Copy number loss	See cases	GBenign
Select item 32870	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign

ClinVar

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Links from Gene

Items: 63