OR1F1[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	GUncertain significance
Select item 3204880	NM_001370640.6(OR1F1):c.18G>C (p.Gln6His)	OR1F1 (Q6H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256662	NM_001370640.6(OR1F1):c.34T>C (p.Phe12Leu)	OR1F1 (F12L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 279576	NM_001370640.6(OR1F1):c.47G>A (p.Gly16Glu)	OR1F1 (G16E +1 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GLikely benign
Select item 2556255	NM_001370640.6(OR1F1):c.50T>A (p.Leu17His)	OR1F1 (L17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456687	NM_001370640.6(OR1F1):c.126C>A (p.Asn42Lys)	OR1F1 (N42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781181	NM_001370640.6(OR1F1):c.178T>C (p.Tyr60His)	OR1F1 (Y70H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2243510	NM_001370640.6(OR1F1):c.199T>C (p.Ser67Pro)	OR1F1 (S77P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262516	NM_001370640.6(OR1F1):c.232G>A (p.Val78Ile)	OR1F1 (V88I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317450	NM_001370640.6(OR1F1):c.242T>G (p.Met81Arg)	OR1F1 (M91R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462891	NM_001370640.6(OR1F1):c.256A>G (p.Ile86Val)	OR1F1 (I86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204881	NM_001370640.6(OR1F1):c.277T>A (p.Ser93Thr)	OR1F1 (S93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609763	NM_001370640.6(OR1F1):c.323T>G (p.Val108Gly)	OR1F1 (V108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484582	NM_001370640.6(OR1F1):c.329T>A (p.Met110Lys)	OR1F1 (M110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788677	NM_001370640.6(OR1F1):c.365A>G (p.His122Arg)	OR1F1 (H122R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776969	NM_001370640.6(OR1F1):c.376G>A (p.Val126Met)	OR1F1 (V126M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2317362	NM_001370640.6(OR1F1):c.400G>A (p.Ala134Thr)	OR1F1 (A134T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341721	NM_001370640.6(OR1F1):c.551T>C (p.Leu184Pro)	OR1F1 (L184P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204882	NM_001370640.6(OR1F1):c.584A>G (p.Asn195Ser)	OR1F1 (N195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361973	NM_001370640.6(OR1F1):c.665C>A (p.Thr222Asn)	OR1F1 (T222N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372294	NM_001370640.6(OR1F1):c.730C>T (p.His244Tyr)	OR1F1 (H244Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507458	NM_001370640.6(OR1F1):c.742G>C (p.Val248Leu)	OR1F1 (V248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204883	NM_001370640.6(OR1F1):c.766A>G (p.Ile256Val)	OR1F1 (I256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204884	NM_001370640.6(OR1F1):c.821C>T (p.Ala274Val)	OR1F1 (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518237	NM_001370640.6(OR1F1):c.845C>T (p.Thr282Ile)	OR1F1 (T282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241408	NM_001370640.6(OR1F1):c.856A>G (p.Asn286Asp)	OR1F1 (N296D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388844	NM_001370640.6(OR1F1):c.898G>A (p.Ala300Thr)	OR1F1 (A300T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538913	NM_001370640.6(OR1F1):c.922G>A (p.Val308Met)	OR1F1 (V308M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063409	GRCh37/hg19 16p13.3(chr16:3112024-3506789)x3	IL32, MEFV +14 more	Copy number gain	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	ADCY9, ANKS3 +52 more	Copy number loss	not provided	GPathogenic
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 689245	GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3	C16orf90, CLUAP1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 624543	GRCh37/hg19 16p13.3(chr16:3219476-3378736)x3	MEFV, OR1F1 +4 more	Copy number gain	not provided	GLikely benign
Select item 624490	GRCh37/hg19 16p13.3(chr16:3100528-3305985)x3	IL32, MEFV +6 more	Copy number gain	not provided	GLikely benign
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442735	GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3	BICDL2, CLDN6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253729	GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3	C16orf90, CLUAP1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 253470	GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3	BICDL2, C16orf90 +36 more	Copy number gain	See cases	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 71