ClinVar for Gene (Select 391194) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 123

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302729	NM_001004688.2(OR2M2):c.806C>G (p.Thr269Arg)	OR2M2 (T269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302728	NM_001004688.2(OR2M2):c.701G>A (p.Arg234His)	OR2M2 (R234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302727	NM_001004688.2(OR2M2):c.994A>G (p.Ile332Val)	OR2M2 (I332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205197	NM_001004688.2(OR2M2):c.947A>T (p.His316Leu)	OR2M2 (H316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205196	NM_001004688.2(OR2M2):c.899C>T (p.Ala300Val)	OR2M2 (A300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205195	NM_001004688.2(OR2M2):c.816G>T (p.Lys272Asn)	OR2M2 (K272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205194	NM_001004688.2(OR2M2):c.805A>G (p.Thr269Ala)	OR2M2 (T269A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205193	NM_001004688.2(OR2M2):c.74C>T (p.Thr25Met)	OR2M2 (T25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205192	NM_001004688.2(OR2M2):c.733C>T (p.Leu245Phe)	OR2M2 (L245F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205191	NM_001004688.2(OR2M2):c.72C>A (p.His24Gln)	OR2M2 (H24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205188	NM_001004688.2(OR2M2):c.610A>G (p.Ile204Val)	OR2M2 (I204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205187	NM_001004688.2(OR2M2):c.568A>G (p.Asn190Asp)	OR2M2 (N190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205186	NM_001004688.2(OR2M2):c.566G>A (p.Cys189Tyr)	OR2M2 (C189Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205185	NM_001004688.2(OR2M2):c.313A>G (p.Ile105Val)	OR2M2 (I105V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3148935	GRCh37/hg19 1q44(chr1:246765135-249224684)x1	AHCTF1, CNST +55 more	Copy number loss	not provided	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685965	GRCh37/hg19 1q44(chr1:246983973-249224684)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2681453	NM_001004688.2(OR2M2):c.107dup (p.Leu36fs)	OR2M2 (L36fs)	Duplication (frameshift variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2588222	NM_001004688.2(OR2M2):c.527A>G (p.His176Arg)	OR2M2 (H176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2555457	NM_001004688.2(OR2M2):c.518A>C (p.Glu173Ala)	OR2M2 (E173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527923	NM_001004688.2(OR2M2):c.430A>C (p.Met144Leu)	OR2M2 (M144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518300	NM_001004688.2(OR2M2):c.878G>A (p.Arg293His)	OR2M2 (R293H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516758	NM_001004688.2(OR2M2):c.346G>A (p.Ala116Thr)	OR2M2 (A116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509897	NM_001004688.2(OR2M2):c.523G>T (p.Ala175Ser)	OR2M2 (A175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 2378718	NM_001004688.2(OR2M2):c.540A>C (p.Glu180Asp)	OR2M2 (E180D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318321	NM_001004688.2(OR2M2):c.745G>A (p.Gly249Arg)	OR2M2 (G249R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311712	NM_001004688.2(OR2M2):c.904A>C (p.Met302Leu)	OR2M2 (M302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299889	NM_001004688.2(OR2M2):c.904A>G (p.Met302Val)	OR2M2 (M302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280261	NM_001004688.2(OR2M2):c.817A>C (p.Met273Leu)	OR2M2 (M273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265308	NM_001004688.2(OR2M2):c.618G>T (p.Met206Ile)	OR2M2 (M206I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252439	NM_001004688.2(OR2M2):c.109G>T (p.Val37Leu)	OR2M2 (V37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222760	NM_001004688.2(OR2M2):c.200C>G (p.Ser67Cys)	OR2M2 (S67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222606	NM_001004688.2(OR2M2):c.722G>C (p.Cys241Ser)	OR2M2 (C241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1710923	GRCh37/hg19 1q44(chr1:246850401-249205263)x3	AHCTF1, GCSAML +54 more	Copy number gain	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1339980	GRCh37/hg19 1q44(chr1:248049805-248844899)x1	OR14C36, OR14I1 +28 more	Copy number loss	not provided	GLikely benign
Select item 1328437	GRCh37/hg19 1q44(chr1:246820858-249213969)x3	AHCTF1, CNST +55 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 980425	GRCh37/hg19 1q44(chr1:246853199-249181899)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GLikely pathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 783322	NM_001004688.2(OR2M2):c.704G>A (p.Cys235Tyr)	OR2M2 (C235Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783020	NM_001004688.2(OR2M2):c.260C>G (p.Ser87Cys)	OR2M2 (S87C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767775	NM_001004688.2(OR2M2):c.703T>C (p.Cys235Arg)	OR2M2 (C235R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 688456	GRCh37/hg19 1q44(chr1:247576587-248688602)x4	GCSAML, NLRP3 +33 more	Copy number gain	not provided	GUncertain significance
Select item 687454	GRCh37/hg19 1q44(chr1:246565044-249224684)x1	AHCTF1, CNST +57 more	Copy number loss	not provided	GPathogenic
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685153	GRCh37/hg19 1q44(chr1:244379481-249224684)x1	ADSS2, AHCTF1 +65 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 635895	Single allele	OR11L1, OR14A16 +22 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625535	GRCh37/hg19 1q44(chr1:245341153-249212429)	AHCTF1, CNST +58 more	Copy number loss	not provided	GLikely pathogenic
Select item 565257	GRCh37/hg19 1q44(chr1:247846257-249224684)x1	LYPD8, OR11L1 +38 more	Copy number loss	not provided	GUncertain significance
Select item 565250	GRCh37/hg19 1q44(chr1:244797639-249224684)x1	AHCTF1, CATSPERE +63 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 443568	GRCh37/hg19 1q44(chr1:246753355-249224684)x3	AHCTF1, CNST +55 more	Copy number gain	See cases	GUncertain significance
Select item 443102	GRCh37/hg19 1q44(chr1:244197791-249224684)x4	ADSS2, AHCTF1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	See cases	GPathogenic
Select item 441889	GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4	ADSS2, AHCTF1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 395294	GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3	ADSS2, CATSPERE +70 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 253547	GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1	OR2L2, OR2L8 +66 more	Copy number loss	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 154696	GRCh38/hg38 1q44(chr1:247404783-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 152954	GRCh38/hg38 1q44(chr1:247930527-248622261)x3	LOC126806088, LOC129388812 +27 more	Copy number gain	See cases	GBenign
Select item 152683	GRCh38/hg38 1q44(chr1:247671583-248317448)x3	LOC115804254, LOC126806088 +25 more	Copy number gain	See cases	GBenign
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 150353	GRCh38/hg38 1q44(chr1:247682929-248521590)x3	LOC115804254, LOC126806088 +36 more	Copy number gain	See cases	GBenign
Select item 150051	GRCh38/hg38 1q44(chr1:247682929-248622297)x3	LOC115804254, LOC126806088 +39 more	Copy number gain	See cases	GBenign
Select item 149799	GRCh38/hg38 1q44(chr1:247613235-248521590)x3	LOC102724446, LOC115804254 +39 more	Copy number gain	See cases	GBenign
Select item 149015	GRCh38/hg38 1q44(chr1:247798967-248376495)x1	LOC115804254, LOC126806088 +23 more	Copy number loss	See cases	GLikely benign
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 148292	GRCh38/hg38 1q44(chr1:247389261-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GLikely benign
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 147276	GRCh38/hg38 1q44(chr1:247798967-248521608)x3	LOC115804254, LOC126806088 +31 more	Copy number gain	See cases	GBenign
Select item 146932	GRCh38/hg38 1q44(chr1:248176668-248406116)x3	LOC126806088, LOC129388812 +10 more	Copy number gain	See cases	GBenign
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2