OR4E2[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 2255777	NM_001001912.3(OR4E2):c.37G>C (p.Val13Leu)	OR4E2, TRA (V13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386894	NM_001001912.3(OR4E2):c.61C>T (p.Arg21Trp)	OR4E2, TRA (R21W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527898	NM_001001912.3(OR4E2):c.62G>T (p.Arg21Leu)	OR4E2, TRA (R21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468559	NM_001001912.3(OR4E2):c.64G>A (p.Val22Met)	OR4E2, TRA (V22M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592224	NM_001001912.3(OR4E2):c.79T>A (p.Phe27Ile)	OR4E2, TRA (F27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302894	NM_001001912.3(OR4E2):c.125A>G (p.Asn42Ser)	OR4E2, TRA (N42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208948	NM_001001912.3(OR4E2):c.154A>G (p.Thr52Ala)	OR4E2, TRA (T52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372982	NM_001001912.3(OR4E2):c.190A>G (p.Ser64Gly)	OR4E2, TRA (S64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218097	NM_001001912.3(OR4E2):c.191G>C (p.Ser64Thr)	OR4E2, TRA (S64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205551	NM_001001912.3(OR4E2):c.248A>G (p.Glu83Gly)	OR4E2, TRA (E83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495104	NM_001001912.3(OR4E2):c.350T>C (p.Ile117Thr)	OR4E2, TRA (I117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302893	NM_001001912.3(OR4E2):c.367T>C (p.Tyr123His)	OR4E2, TRA (Y123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257536	NM_001001912.3(OR4E2):c.401A>G (p.Asn134Ser)	OR4E2, TRA (N134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302891	NM_001001912.3(OR4E2):c.467C>T (p.Ser156Leu)	OR4E2, TRA (S156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308459	NM_001001912.3(OR4E2):c.626C>T (p.Ser209Phe)	OR4E2, TRA (S209F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272862	NM_001001912.3(OR4E2):c.656T>C (p.Met219Thr)	OR4E2, TRA (M219T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205552	NM_001001912.3(OR4E2):c.670T>C (p.Ser224Pro)	OR4E2, TRA (S224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351825	NM_001001912.3(OR4E2):c.677G>A (p.Arg226Gln)	OR4E2, TRA (R226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367382	NM_001001912.3(OR4E2):c.698G>A (p.Arg233His)	OR4E2, TRA (R233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350652	NM_001001912.3(OR4E2):c.709C>G (p.Leu237Val)	TRA, OR4E2 (L237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321765	NM_001001912.3(OR4E2):c.773A>G (p.Tyr258Cys)	OR4E2, TRA (Y258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205553	NM_001001912.3(OR4E2):c.800T>C (p.Ile267Thr)	OR4E2, TRA (I267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404077	NM_001001912.3(OR4E2):c.838C>G (p.Pro280Ala)	OR4E2, TRA (P280A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509524	NM_001001912.3(OR4E2):c.850C>G (p.Pro284Ala)	OR4E2, TRA (P284A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302892	NM_001001912.3(OR4E2):c.880G>C (p.Val294Leu)	OR4E2, TRA (V294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318252	NM_001001912.3(OR4E2):c.913C>A (p.Gln305Lys)	OR4E2, TRA (Q305K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208462	NM_001001912.3(OR4E2):c.926C>T (p.Thr309Met)	OR4E2, TRA (T309M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560044	NM_001001912.3(OR4E2):c.929A>G (p.Lys310Arg)	OR4E2, TRA (K310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 981171	Single allele	ABHD4, DAD1 +5 more	Deletion	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 689314	GRCh37/hg19 14q11.2(chr14:21678344-22299981)x3	CHD8, HNRNPC +10 more	Copy number gain	not provided	GUncertain significance
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 55