OR2T6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	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 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 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 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	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 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
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 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 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 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	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 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 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +227 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +203 more	Copy number loss	See cases	GPathogenic
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +169 more	Copy number gain	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 154696	GRCh38/hg38 1q44(chr1:247404783-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 149799	GRCh38/hg38 1q44(chr1:247613235-248521590)x3	LOC102724446, LOC115804254 +39 more	Copy number gain	See cases	GBenign
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 57481	GRCh38/hg38 1q44(chr1:247682931-248609256)x3	LOC115804254, LOC126806088 +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 147276	GRCh38/hg38 1q44(chr1:247798967-248521608)x3	LOC115804254, LOC126806088 +31 more	Copy number gain	See cases	GBenign
Select item 152954	GRCh38/hg38 1q44(chr1:247930527-248622261)x3	LOC126806088, LOC129388812 +27 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 145363	GRCh38/hg38 1q44(chr1:248176671-248400557)x1	LOC126806088, LOC129388812 +9 more	Copy number loss	See cases	GBenign
Select item 152681	GRCh38/hg38 1q44(chr1:248250956-248787141)x3	LOC129388812, LOC129388813 +22 more	Copy number gain	See cases	GBenign
Select item 3205309	NM_001005471.2(OR2T6):c.60C>G (p.His20Gln)	OR2T6 (H20Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207516	NM_001005471.2(OR2T6):c.62A>G (p.Asn21Ser)	OR2T6 (N21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302790	NM_001005471.2(OR2T6):c.133A>G (p.Met45Val)	OR2T6 (M45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480308	NM_001005471.2(OR2T6):c.211A>C (p.Thr71Pro)	OR2T6 (T71P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550891	NM_001005471.2(OR2T6):c.269G>C (p.Gly90Ala)	OR2T6 (G90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344751	NM_001005471.2(OR2T6):c.274A>G (p.Ile92Val)	OR2T6 (I92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205307	NM_001005471.2(OR2T6):c.370G>A (p.Val124Met)	OR2T6 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600670	NM_001005471.2(OR2T6):c.392G>A (p.Arg131His)	OR2T6 (R131H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219826	NM_001005471.2(OR2T6):c.400G>A (p.Val134Ile)	OR2T6 (V134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361046	NM_001005471.2(OR2T6):c.451G>A (p.Gly151Ser)	OR2T6 (G151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302788	NM_001005471.2(OR2T6):c.452G>A (p.Gly151Asp)	OR2T6 (G151D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384131	NM_001005471.2(OR2T6):c.467G>A (p.Ser156Asn)	OR2T6 (S156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315977	NM_001005471.2(OR2T6):c.479C>T (p.Thr160Ile)	OR2T6 (T160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302789	NM_001005471.2(OR2T6):c.500C>T (p.Pro167Leu)	OR2T6 (P167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337460	NM_001005471.2(OR2T6):c.592G>T (p.Val198Leu)	OR2T6 (V198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207463	NM_001005471.2(OR2T6):c.663T>G (p.Ile221Met)	OR2T6 (I221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609554	NM_001005471.2(OR2T6):c.664C>G (p.Leu222Val)	OR2T6 (L222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400040	NM_001005471.2(OR2T6):c.731A>T (p.His244Leu)	OR2T6 (H244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405020	NM_001005471.2(OR2T6):c.737T>C (p.Met246Thr)	OR2T6 (M246T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205310	NM_001005471.2(OR2T6):c.776A>G (p.Tyr259Cys)	OR2T6 (Y259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526871	NM_001005471.2(OR2T6):c.800C>A (p.Thr267Asn)	OR2T6 (T267N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297017	NM_001005471.2(OR2T6):c.884G>A (p.Arg295Lys)	OR2T6 (R295K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488968	NM_001005471.2(OR2T6):c.892A>C (p.Met298Leu)	OR2T6 (M298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
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 1340741	GRCh37/hg19 1q44(chr1:248415451-248639486)x3	OR14C36, OR2M7 +7 more	Copy number gain	not provided	GLikely benign
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	ANKRD45, BRINP3 +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 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

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