ClinVar for Gene (Select 343173) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205276	NM_001005495.1(OR2T3):c.934T>C (p.Ser312Pro)	OR2T3 (S312P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205275	NM_001005495.1(OR2T3):c.7T>C (p.Ser3Pro)	OR2T3 (S3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205273	NM_001005495.1(OR2T3):c.668A>G (p.Tyr223Cys)	OR2T3 (Y223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205272	NM_001005495.1(OR2T3):c.59C>T (p.Thr20Met)	OR2T3 (T20M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205271	NM_001005495.1(OR2T3):c.595C>G (p.Leu199Val)	OR2T3 (L199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205270	NM_001005495.1(OR2T3):c.329T>C (p.Leu110Pro)	OR2T3 (L110P)	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 2604513	NM_001005495.1(OR2T3):c.578C>T (p.Ser193Phe)	OR2T3 (S193F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601637	NM_001005495.1(OR2T3):c.287C>T (p.Thr96Ile)	OR2T3 (T96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	LINC01743, LINC02774 +235 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2558300	NM_001005495.1(OR2T3):c.75G>C (p.Glu25Asp)	OR2T3 (E25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557280	NM_001005495.1(OR2T3):c.795G>C (p.Met265Ile)	OR2T3 (M265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554805	NM_001005495.1(OR2T3):c.368T>C (p.Met123Thr)	OR2T3 (M123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553854	NM_001005495.1(OR2T3):c.122T>C (p.Leu41Ser)	OR2T3 (L41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529753	NM_001005495.1(OR2T3):c.221T>C (p.Met74Thr)	OR2T3 (M74T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522158	NM_001005495.1(OR2T3):c.214G>A (p.Ala72Thr)	OR2T3 (A72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510967	NM_001005495.1(OR2T3):c.79A>C (p.Lys27Gln)	OR2T3 (K27Q)	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 2473622	NM_001005495.1(OR2T3):c.764T>C (p.Leu255Pro)	OR2T3 (L255P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459713	NM_001005495.1(OR2T3):c.565C>A (p.Leu189Met)	OR2T3 (L189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398540	NM_001005495.1(OR2T3):c.725C>A (p.Ala242Asp)	OR2T3 (A242D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386916	NM_001005495.1(OR2T3):c.499A>G (p.Ile167Val)	OR2T3 (I167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375925	NM_001005495.1(OR2T3):c.698T>C (p.Met233Thr)	OR2T3 (M233T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354001	NM_001005495.1(OR2T3):c.796C>T (p.Leu266Phe)	OR2T3 (L266F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320540	NM_001005495.1(OR2T3):c.148C>T (p.Leu50Phe)	OR2T3 (L50F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304097	NM_001005495.1(OR2T3):c.98A>C (p.Tyr33Ser)	OR2T3 (Y33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273155	NM_001005495.1(OR2T3):c.476T>C (p.Val159Ala)	OR2T3 (V159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272533	NM_001005495.1(OR2T3):c.109T>G (p.Phe37Val)	OR2T3 (F37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269119	NM_001005495.1(OR2T3):c.10G>C (p.Gly4Arg)	OR2T3 (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258500	NM_001005495.1(OR2T3):c.305G>A (p.Cys102Tyr)	OR2T3 (C102Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255525	NM_001005495.1(OR2T3):c.557C>A (p.Thr186Asn)	OR2T3 (T186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240379	NM_001005495.1(OR2T3):c.106A>T (p.Thr36Ser)	OR2T3 (T36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213619	NM_001005495.1(OR2T3):c.299C>T (p.Ser100Leu)	OR2T3 (S100L)	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	ABCB10, ACBD3 +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	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 442141	GRCh37/hg19 1q44(chr1:248572727-249224684)x3	LYPD8, OR14I1 +14 more	Copy number gain	See cases	GUncertain significance
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	EGLN1, EIF2D +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 +1427 more	Copy number gain	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 154834	GRCh38/hg38 1q44(chr1:248400498-248698574)x3	LOC129388813, LOC129932956 +14 more	Copy number gain	See cases	GBenign
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +282 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 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 152681	GRCh38/hg38 1q44(chr1:248250956-248787141)x3	LOC129388812, LOC129388813 +22 more	Copy number gain	See cases	GBenign
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +243 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 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	LOC110121264, LOC110121265 +301 more	Copy number loss	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +272 more	Copy number loss	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +230 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 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 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +202 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +168 more	Copy number gain	See cases	GPathogenic

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