OR4C15[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145000	GRCh38/hg38 11q11-12.1(chr11:55265785-56230226)x3	LOC126861207, OR10AG1 +28 more	Copy number gain	See cases	GBenign
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 149770	GRCh38/hg38 11q11-12.1(chr11:55316591-55855055)x3	OR4A15, OR4A16 +13 more	Copy number gain	See cases	GLikely benign
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 32870	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 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 57245	GRCh38/hg38 11q11-12.1(chr11:55445689-57114783)x1	LINC02735, LOC126861207 +50 more	Copy number loss	See cases	GBenign
Select item 150075	GRCh38/hg38 11q11(chr11:55522385-55728510)x3	OR4C11, OR4C15 +5 more	Copy number gain	See cases	GLikely benign
Select item 3302859	NM_001001920.2(OR4C15):c.-144G>A	OR4C15	Single nucleotide variant	not specified	GUncertain significance
Select item 2247129	NM_001001920.2(OR4C15):c.-90C>T	OR4C15	Single nucleotide variant	not specified	GUncertain significance
Select item 3205458	NM_001001920.2(OR4C15):c.-83T>C	OR4C15	Single nucleotide variant	not specified	GLikely benign
Select item 3205450	NM_001001920.2(OR4C15):c.-35T>C	OR4C15	Single nucleotide variant	not specified	GUncertain significance
Select item 2257701	NM_001001920.2(OR4C15):c.-5G>A	OR4C15	Single nucleotide variant	not specified	GLikely benign
Select item 3205451	NM_001001920.3(OR4C15):c.19G>A (p.Val7Ile)	OR4C15 (V7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364628	NM_001001920.3(OR4C15):c.31G>A (p.Val11Ile)	OR4C15 (V11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288580	NM_001001920.3(OR4C15):c.62T>C (p.Val21Ala)	OR4C15 (V21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550502	NM_001001920.3(OR4C15):c.93T>A (p.Phe31Leu)	OR4C15 (F31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207007	NM_001001920.3(OR4C15):c.94G>T (p.Val32Phe)	OR4C15 (V32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205452	NM_001001920.3(OR4C15):c.130G>T (p.Val44Leu)	OR4C15 (V44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367071	NM_001001920.3(OR4C15):c.142C>A (p.Leu48Ile)	OR4C15 (L48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336023	NM_001001920.3(OR4C15):c.151C>G (p.Pro51Ala)	OR4C15 (P51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482709	NM_001001920.3(OR4C15):c.163G>T (p.Val55Leu)	OR4C15 (V55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205453	NM_001001920.3(OR4C15):c.188G>T (p.Gly63Val)	OR4C15 (G63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205454	NM_001001920.3(OR4C15):c.209C>T (p.Ala70Val)	OR4C15 (A70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359051	NM_001001920.3(OR4C15):c.212G>A (p.Cys71Tyr)	OR4C15 (C71Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614153	NM_001001920.3(OR4C15):c.251C>A (p.Ser84Tyr)	OR4C15 (S84Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311576	NM_001001920.3(OR4C15):c.268A>G (p.Thr90Ala)	OR4C15 (T90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205455	NM_001001920.3(OR4C15):c.323G>A (p.Gly108Glu)	OR4C15 (G108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374120	NM_001001920.3(OR4C15):c.347C>T (p.Ala116Val)	OR4C15 (A116V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211459	NM_001001920.3(OR4C15):c.362G>A (p.Arg121His)	OR4C15 (R121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282942	NM_001001920.3(OR4C15):c.377G>T (p.Cys126Phe)	OR4C15 (C126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205456	NM_001001920.3(OR4C15):c.397T>C (p.Ser133Pro)	OR4C15 (S133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611767	NM_001001920.3(OR4C15):c.398C>G (p.Ser133Cys)	OR4C15 (S133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233089	NM_001001920.3(OR4C15):c.421G>T (p.Gly141Cys)	OR4C15 (G141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302858	NM_001001920.3(OR4C15):c.434G>A (p.Gly145Glu)	OR4C15 (G145E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317611	NM_001001920.3(OR4C15):c.452G>A (p.Gly151Asp)	OR4C15 (G151D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277272	NM_001001920.3(OR4C15):c.454C>T (p.Leu152Phe)	OR4C15 (L152F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205457	NM_001001920.3(OR4C15):c.506G>A (p.Gly169Asp)	OR4C15 (G169D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247128	NM_001001920.3(OR4C15):c.532T>A (p.Cys178Ser)	OR4C15 (C178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459296	NM_001001920.3(OR4C15):c.545C>T (p.Pro182Leu)	OR4C15 (P182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356603	NM_001001920.3(OR4C15):c.563G>A (p.Cys188Tyr)	OR4C15 (C188Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221893	NM_001001920.3(OR4C15):c.592G>A (p.Val198Met)	OR4C15 (V198M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302860	NM_001001920.3(OR4C15):c.605G>A (p.Ser202Asn)	OR4C15 (S202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205459	NM_001001920.3(OR4C15):c.664C>T (p.Leu222Phe)	OR4C15 (L222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298650	NM_001001920.3(OR4C15):c.682A>T (p.Ser228Cys)	OR4C15 (S228C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468562	NM_001001920.3(OR4C15):c.685T>A (p.Ser229Thr)	OR4C15 (S229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205460	NM_001001920.3(OR4C15):c.715T>G (p.Cys239Gly)	OR4C15 (C239G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515510	NM_001001920.3(OR4C15):c.728T>C (p.Ile243Thr)	OR4C15 (I243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205461	NM_001001920.3(OR4C15):c.754C>T (p.Pro252Ser)	OR4C15 (P252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205462	NM_001001920.3(OR4C15):c.766G>T (p.Val256Leu)	OR4C15 (V256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311811	NM_001001920.3(OR4C15):c.776G>C (p.Arg259Pro)	OR4C15 (R259P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205463	NM_001001920.3(OR4C15):c.779C>T (p.Pro260Leu)	OR4C15 (P260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457512	NM_001001920.3(OR4C15):c.851T>G (p.Leu284Trp)	OR4C15 (L284W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324848	NM_001001920.3(OR4C15):c.859A>G (p.Thr287Ala)	OR4C15 (T287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614634	NM_001001920.3(OR4C15):c.891G>A (p.Met297Ile)	OR4C15 (M297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205449	NM_001001920.3(OR4C15):c.904A>G (p.Asn302Asp)	OR4C15 (N302D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249404	NM_001001920.3(OR4C15):c.934G>A (p.Glu312Lys)	OR4C15 (E312K)	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 70