OR11H12[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147191	GRCh38/hg38 14q11.2(chr14:18600315-18658127)x1	LINC02297, OR11H12	Copy number loss	See cases	GBenign
Select item 146963	GRCh38/hg38 14q11.2(chr14:18600315-19967729)x1	LINC01296, LINC01297 +17 more	Copy number loss	See cases	GBenign
Select item 146947	GRCh38/hg38 14q11.2(chr14:18600315-19946044)x3	LINC01296, LINC01297 +17 more	Copy number gain	See cases	GBenign
Select item 3302474	NM_001013354.1(OR11H12):c.7C>A (p.Pro3Thr)	OR11H12 (P3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204697	NM_001013354.1(OR11H12):c.13A>G (p.Thr5Ala)	OR11H12 (T5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343242	NM_001013354.1(OR11H12):c.21G>T (p.Gln7His)	OR11H12 (Q7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204703	NM_001013354.1(OR11H12):c.86T>C (p.Leu29Pro)	OR11H12 (L29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362935	NM_001013354.1(OR11H12):c.92G>T (p.Gly31Val)	OR11H12 (G31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221692	NM_001013354.1(OR11H12):c.97A>C (p.Thr33Pro)	OR11H12 (T33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402143	NM_001013354.1(OR11H12):c.101G>A (p.Cys34Tyr)	OR11H12 (C34Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374300	NM_001013354.1(OR11H12):c.101G>C (p.Cys34Ser)	OR11H12 (C34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204695	NM_001013354.1(OR11H12):c.119T>C (p.Ile40Thr)	OR11H12 (I40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204696	NM_001013354.1(OR11H12):c.136T>G (p.Phe46Val)	OR11H12 (F46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204698	NM_001013354.1(OR11H12):c.146C>T (p.Thr49Ile)	OR11H12 (T49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644024	NM_001013354.1(OR11H12):c.202T>C (p.Trp68Arg)	OR11H12 (W68R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644025	NM_001013354.1(OR11H12):c.206G>A (p.Arg69Gln)	OR11H12 (R69Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2521434	NM_001013354.1(OR11H12):c.223T>A (p.Tyr75Asn)	OR11H12 (Y75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352672	NM_001013354.1(OR11H12):c.263A>G (p.Tyr88Cys)	OR11H12 (Y88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280266	NM_001013354.1(OR11H12):c.362C>G (p.Ser121Cys)	OR11H12 (S121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361884	NM_001013354.1(OR11H12):c.366G>C (p.Leu122Phe)	OR11H12 (L122F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300120	NM_001013354.1(OR11H12):c.380G>A (p.Cys127Tyr)	OR11H12 (C127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644026	NM_001013354.1(OR11H12):c.387T>C (p.Leu129=)	OR11H12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375125	NM_001013354.1(OR11H12):c.458G>A (p.Gly153Glu)	OR11H12 (G153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471606	NM_001013354.1(OR11H12):c.526G>T (p.Val176Phe)	OR11H12 (V176F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404191	NM_001013354.1(OR11H12):c.573T>G (p.His191Gln)	OR11H12 (H191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254444	NM_001013354.1(OR11H12):c.582T>G (p.Cys194Trp)	OR11H12 (C194W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279738	NM_001013354.1(OR11H12):c.592C>T (p.Pro198Ser)	OR11H12 (P198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644027	NM_001013354.1(OR11H12):c.642C>T (p.Cys214=)	OR11H12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2590386	NM_001013354.1(OR11H12):c.650T>A (p.Leu217Gln)	OR11H12 (L217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305634	NM_001013354.1(OR11H12):c.674A>T (p.Asn225Ile)	OR11H12 (N225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523585	NM_001013354.1(OR11H12):c.691G>A (p.Gly231Arg)	OR11H12 (G231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204562	NM_001013354.1(OR11H12):c.723G>T (p.Leu241Phe)	OR11H12 (L241F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302475	NM_001013354.1(OR11H12):c.739A>G (p.Thr247Ala)	OR11H12 (T247A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387797	NM_001013354.1(OR11H12):c.754G>A (p.Ala252Thr)	OR11H12 (A252T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345776	NM_001013354.1(OR11H12):c.755C>T (p.Ala252Val)	OR11H12 (A252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510546	NM_001013354.1(OR11H12):c.764C>T (p.Thr255Ile)	OR11H12 (T255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310185	NM_001013354.1(OR11H12):c.793C>G (p.Leu265Val)	OR11H12 (L265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528003	NM_001013354.1(OR11H12):c.806C>A (p.Ser269Tyr)	OR11H12 (S269Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622982	NM_001013354.1(OR11H12):c.808C>G (p.Leu270Val)	OR11H12 (L270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465619	NM_001013354.1(OR11H12):c.841C>T (p.His281Tyr)	OR11H12 (H281Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365895	NM_001013354.1(OR11H12):c.848C>T (p.Thr283Ile)	OR11H12 (T283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644028	NM_001013354.1(OR11H12):c.849A>G (p.Thr283=)	OR11H12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3204701	NM_001013354.1(OR11H12):c.860A>T (p.Lys287Ile)	OR11H12 (K287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204702	NM_001013354.1(OR11H12):c.866A>T (p.Glu289Val)	OR11H12 (E289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622760	NM_001013354.1(OR11H12):c.868A>T (p.Thr290Ser)	OR11H12 (T290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554758	NM_001013354.1(OR11H12):c.873G>T (p.Leu291Phe)	OR11H12 (L291F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374715	NM_001013354.1(OR11H12):c.876C>G (p.Phe292Leu)	OR11H12 (F292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302476	NM_001013354.1(OR11H12):c.914A>G (p.Tyr305Cys)	OR11H12 (Y305C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209778	NM_001013354.1(OR11H12):c.914A>T (p.Tyr305Phe)	OR11H12 (Y305F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204704	NM_001013354.1(OR11H12):c.947T>A (p.Leu316Gln)	OR11H12 (L316Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204705	NM_001013354.1(OR11H12):c.962G>A (p.Gly321Glu)	OR11H12 (G321E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 157299	Single allele	LOC101929572, OR11H12 +15 more	Duplication	Normal pregnancy	Gnot provided
Select item 157298	Single allele	LOC101929572, OR11H12 +9 more	Duplication	Large for gestational age	Gnot provided

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Items: 54