ClinVar for Gene (Select 6955) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 108

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3302893	NM_001001912.3(OR4E2):c.367T>C (p.Tyr123His)	OR4E2, TRA (Y123H)	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 3302891	NM_001001912.3(OR4E2):c.467C>T (p.Ser156Leu)	OR4E2, TRA (S156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302391	NM_001005466.2(OR10G2):c.211C>T (p.Leu71Phe)	OR10G2, TRA (L71F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302390	NM_001005466.2(OR10G2):c.661C>G (p.Leu221Val)	OR10G2, TRA (L221V)	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 3205552	NM_001001912.3(OR4E2):c.670T>C (p.Ser224Pro)	OR4E2, TRA (S224P)	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 3204506	NM_001005466.2(OR10G2):c.891C>A (p.Asn297Lys)	OR10G2, TRA (N297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204505	NM_001005466.2(OR10G2):c.755T>C (p.Val252Ala)	OR10G2, TRA (V252A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204504	NM_001005466.2(OR10G2):c.74C>A (p.Pro25Gln)	OR10G2, TRA (P25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204503	NM_001005466.2(OR10G2):c.698T>G (p.Ile233Arg)	OR10G2, TRA (I233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204502	NM_001005466.2(OR10G2):c.586G>T (p.Asp196Tyr)	OR10G2, TRA (D196Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204501	NM_001005466.2(OR10G2):c.508C>T (p.Arg170Cys)	OR10G2, TRA (R170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204500	NM_001005466.2(OR10G2):c.466G>A (p.Ala156Thr)	OR10G2, TRA (A156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204499	NM_001005466.2(OR10G2):c.337G>A (p.Gly113Ser)	OR10G2, TRA (G113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204498	NM_001005466.2(OR10G2):c.251C>T (p.Pro84Leu)	TRA, OR10G2 (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204497	NM_001005466.2(OR10G2):c.131T>C (p.Leu44Pro)	OR10G2, TRA (L44P)	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 2644073	NM_001317107.2(OR4E1):c.657G>A (p.Val219=)	OR4E1, TRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608596	NM_001005466.2(OR10G2):c.274C>T (p.Pro92Ser)	OR10G2, TRA (P92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606175	NM_001005466.2(OR10G2):c.109A>G (p.Ile37Val)	OR10G2, TRA (I37V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2560044	NM_001001912.3(OR4E2):c.929A>G (p.Lys310Arg)	OR4E2, TRA (K310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534966	NM_001005466.2(OR10G2):c.667T>C (p.Tyr223His)	OR10G2, TRA (Y223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2509524	NM_001001912.3(OR4E2):c.850C>G (p.Pro284Ala)	OR4E2, TRA (P284A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498232	NC_000014.9:g.22007908A>C	TRA, TRAV19	Single nucleotide variant	Keratoconus	GUncertain significance
Select item 2498231	NC_000014.9:g.22007907C>T	TRA, TRAV19	Single nucleotide variant	Keratoconus	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 2473746	NM_001005466.2(OR10G2):c.79C>A (p.Leu27Ile)	OR10G2, TRA (L27I)	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 2466900	NM_001005466.2(OR10G2):c.44A>C (p.Asp15Ala)	OR10G2, TRA (D15A)	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 2387796	NM_001005466.2(OR10G2):c.722G>A (p.Arg241Gln)	OR10G2, TRA (R241Q)	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 2377686	NM_001005466.2(OR10G2):c.245C>T (p.Thr82Ile)	OR10G2, TRA (T82I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2367382	NM_001001912.3(OR4E2):c.698G>A (p.Arg233His)	OR4E2, TRA (R233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359499	NM_001005466.2(OR10G2):c.15A>T (p.Lys5Asn)	OR10G2, TRA (K5N)	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 2350652	NM_001001912.3(OR4E2):c.709C>G (p.Leu237Val)	OR4E2, TRA (L237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349397	NM_001005466.2(OR10G2):c.668A>G (p.Tyr223Cys)	OR10G2, TRA (Y223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338106	NM_001005466.2(OR10G2):c.184C>T (p.Arg62Cys)	OR10G2, TRA (R62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330851	NM_001005466.2(OR10G2):c.911T>C (p.Leu304Pro)	OR10G2, TRA (L304P)	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 2321454	NM_001005466.2(OR10G2):c.290T>C (p.Ile97Thr)	OR10G2, TRA (I97T)	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 2316582	NM_001005466.2(OR10G2):c.41C>G (p.Thr14Arg)	OR10G2, TRA (T14R)	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 2299444	NM_001005466.2(OR10G2):c.469G>A (p.Gly157Ser)	OR10G2, TRA (G157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297449	NM_001005466.2(OR10G2):c.23C>T (p.Ser8Leu)	OR10G2, TRA (S8L)	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 2257536	NM_001001912.3(OR4E2):c.401A>G (p.Asn134Ser)	OR4E2, TRA (N134S)	Single nucleotide variant (missense variant)	not specified	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 2241084	NM_001005466.2(OR10G2):c.577G>T (p.Ala193Ser)	OR10G2, TRA (A193S)	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 2212508	NM_001005466.2(OR10G2):c.34G>A (p.Val12Met)	OR10G2, TRA (V12M)	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 2208462	NM_001001912.3(OR4E2):c.926C>T (p.Thr309Met)	OR4E2, TRA (T309M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207461	NM_001005466.2(OR10G2):c.119T>A (p.Ile40Asn)	OR10G2, TRA (I40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 157302	Single allele	TRA	Deletion	Large for gestational age	Gnot provided
Select item 157301	Single allele	TRA	Deletion	Normal pregnancy	Gnot provided
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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 154931	GRCh38/hg38 14q11.2(chr14:21973759-22324997)x3	LOC121838587, LOC130055288 +27 more	Copy number gain	See cases	GLikely benign
Select item 154878	GRCh38/hg38 14q11.2(chr14:21830995-22324997)x3	LOC121838587, LOC130055288 +37 more	Copy number gain	See cases	GLikely benign
Select item 154827	GRCh38/hg38 14q11.2(chr14:22021665-22398359)x3	LOC121838587, LOC130055288 +25 more	Copy number gain	See cases	GLikely benign
Select item 154759	GRCh38/hg38 14q11.2(chr14:21973759-22398359)x3	LOC121838587, LOC130055288 +30 more	Copy number gain	See cases	GLikely benign
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150810	GRCh38/hg38 14q11.2(chr14:21919182-22398359)x3	LOC121838587, LOC130055288 +33 more	Copy number gain	See cases	GLikely benign
Select item 150664	GRCh38/hg38 14q11.2(chr14:21973759-22428036)x3	LOC121838587, LOC130055288 +32 more	Copy number gain	See cases	GBenign
Select item 150434	GRCh38/hg38 14q11.2(chr14:21919182-22201679)x3	LOC121838587, LOC130055288 +21 more	Copy number gain	See cases	GLikely benign
Select item 150336	GRCh38/hg38 14q11.2(chr14:22021665-22428036)x3	LOC121838587, LOC130055288 +27 more	Copy number gain	See cases	GLikely benign
Select item 149729	GRCh38/hg38 14q11.2(chr14:22130104-22398359)x1	LOC130055289, LOC130055290 +15 more	Copy number loss	See cases	GLikely benign
Select item 149450	GRCh38/hg38 14q11.2(chr14:22021665-22324997)x3	LOC121838587, LOC130055288 +22 more	Copy number gain	See cases	GBenign/Likely benign
Select item 149442	GRCh38/hg38 14q11.2(chr14:22130104-22343431)x3	TRA, TRAV26-2 +12 more	Copy number gain	See cases	GBenign
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 147557	GRCh38/hg38 14q11.2(chr14:22229069-22495939)x1	LOC112214171, LOC126861891 +44 more	Copy number loss	See cases	GBenign
Select item 146643	GRCh38/hg38 14q11.2(chr14:21854413-22495939)x1	LOC112214171, LOC121838587 +74 more	Copy number loss	See cases	GBenign
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 146148	GRCh38/hg38 14q11.2(chr14:21973760-22442515)x1	LOC121838587, LOC130055288 +35 more	Copy number loss	See cases	GBenign

<< First< Prev

Page of 2