ClinVar for Gene (Select 80835) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173965	NM_138697.4(TAS1R1):c.970G>A (p.Val324Met)	TAS1R1 (V324M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173964	NM_138697.4(TAS1R1):c.949C>T (p.Arg317Cys)	TAS1R1 (R317C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173963	NM_138697.4(TAS1R1):c.940G>A (p.Gly314Arg)	TAS1R1 (G314R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173962	NM_138697.4(TAS1R1):c.838G>A (p.Ala280Thr)	TAS1R1 (A280T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173961	NM_138697.4(TAS1R1):c.618C>A (p.Phe206Leu)	TAS1R1 (F206L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173960	NM_138697.4(TAS1R1):c.2306A>C (p.Asn769Thr)	TAS1R1 (N515T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173959	NM_138697.4(TAS1R1):c.2142T>A (p.His714Gln)	TAS1R1 (H460Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173958	NM_138697.4(TAS1R1):c.1958C>T (p.Ser653Leu)	TAS1R1 (S399L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173957	NM_138697.4(TAS1R1):c.190A>G (p.Arg64Gly)	TAS1R1 (R64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173956	NM_138697.4(TAS1R1):c.1798G>T (p.Ala600Ser)	TAS1R1 (A600S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173955	NM_138697.4(TAS1R1):c.1490G>A (p.Cys497Tyr)	TAS1R1 (C497Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173954	NM_138697.4(TAS1R1):c.1027C>T (p.Arg343Trp)	TAS1R1 (R343W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685794	GRCh37/hg19 1p36.31(chr1:6498150-6886649)x3	PLEKHG5, TNFRSF25 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638124	NM_138697.4(TAS1R1):c.2048_2049del (p.Val683fs)	TAS1R1 (V429fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 2608068	NM_138697.4(TAS1R1):c.1028G>C (p.Arg343Pro)	TAS1R1 (R343P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589626	NM_138697.4(TAS1R1):c.1121C>T (p.Thr374Met)	TAS1R1 (T374M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569062	NM_138697.4(TAS1R1):c.1396C>G (p.Leu466Val)	TAS1R1 (L466V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541502	NM_138697.4(TAS1R1):c.531C>A (p.Ser177Arg)	TAS1R1 (S177R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528193	NM_138697.4(TAS1R1):c.2009A>G (p.Tyr670Cys)	TAS1R1 (Y416C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512185	NM_138697.4(TAS1R1):c.490G>A (p.Val164Met)	TAS1R1 (V164M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493889	NM_138697.4(TAS1R1):c.1529C>T (p.Thr510Met)	TAS1R1 (T256M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2491161	NM_138697.4(TAS1R1):c.71A>G (p.His24Arg)	TAS1R1 (H24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490728	NM_138697.4(TAS1R1):c.286A>G (p.Ile96Val)	TAS1R1 (I96V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474641	NM_138697.4(TAS1R1):c.2091G>C (p.Trp697Cys)	TAS1R1 (W697C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474173	NM_138697.4(TAS1R1):c.1358C>T (p.Ala453Val)	TAS1R1 (A199V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454957	NM_138697.4(TAS1R1):c.1228G>T (p.Ala410Ser)	TAS1R1 (A410S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2409963	NM_138697.4(TAS1R1):c.238C>T (p.Arg80Trp)	TAS1R1 (R80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395116	NM_138697.4(TAS1R1):c.239G>A (p.Arg80Gln)	TAS1R1 (R80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388656	NM_138697.4(TAS1R1):c.2293A>G (p.Ser765Gly)	TAS1R1 (S511G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387324	NM_138697.4(TAS1R1):c.1831T>C (p.Ser611Pro)	TAS1R1 (S357P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386077	NM_138697.4(TAS1R1):c.1967T>C (p.Leu656Pro)	TAS1R1 (L656P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384284	NM_138697.4(TAS1R1):c.2048T>C (p.Val683Ala)	TAS1R1 (V429A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380112	NM_138697.4(TAS1R1):c.626C>T (p.Thr209Ile)	TAS1R1 (T209I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366075	NM_138697.4(TAS1R1):c.1687C>T (p.Arg563Cys)	TAS1R1 (R309C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363303	NM_138697.4(TAS1R1):c.538C>T (p.Arg180Trp)	TAS1R1 (R180W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354109	NM_138697.4(TAS1R1):c.106G>A (p.Gly36Arg)	TAS1R1 (G36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338844	NM_138697.4(TAS1R1):c.1109T>C (p.Phe370Ser)	TAS1R1 (F370S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325348	NM_138697.4(TAS1R1):c.497T>A (p.Met166Lys)	TAS1R1 (M166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313440	NM_138697.4(TAS1R1):c.841A>G (p.Arg281Gly)	TAS1R1 (R281G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308027	NM_138697.4(TAS1R1):c.2002A>T (p.Thr668Ser)	TAS1R1 (T668S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298014	NM_138697.4(TAS1R1):c.2098G>T (p.Val700Leu)	TAS1R1 (V700L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291914	NM_138697.4(TAS1R1):c.2171A>C (p.Asn724Thr)	TAS1R1 (N470T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286765	NM_138697.4(TAS1R1):c.859G>A (p.Val287Met)	TAS1R1 (V287M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263966	NM_138697.4(TAS1R1):c.2219T>C (p.Ile740Thr)	TAS1R1 (I486T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256358	NM_138697.4(TAS1R1):c.1277A>T (p.His426Leu)	TAS1R1 (H426L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205608	NM_138697.4(TAS1R1):c.779T>C (p.Met260Thr)	TAS1R1 (M260T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808536	GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1	ACOT7, CAMTA1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703625	GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)	ICMT, KLHL21 +19 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1526428	GRCh37/hg19 1p36.31-36.23(chr1:6360146-7888730)	ACOT7, CAMTA1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	AURKAIP1, B3GALT6 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	ISG15, SLC35E2A +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 775498	NM_138697.4(TAS1R1):c.1808G>A (p.Arg603His)	TAS1R1 (R349H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775497	NM_138697.4(TAS1R1):c.1117C>A (p.His373Asn)	TAS1R1 (H373N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 775496	NM_138697.4(TAS1R1):c.201C>T (p.Ser67=)	TAS1R1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767648	NM_138697.4(TAS1R1):c.1807C>T (p.Arg603Cys)	TAS1R1 (R349C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709202	NM_138697.4(TAS1R1):c.541C>G (p.Gln181Glu)	TAS1R1 (Q181E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 565059	GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 443883	GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	ACAP3, ACOT7 +106 more	Copy number loss	See cases	GPathogenic
Select item 443478	GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	ACAP3, ACOT7 +98 more	Copy number loss	See cases	GPathogenic
Select item 442741	GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1	ACOT7, ACTRT2 +34 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 393825	GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3	ACOT7, ACTRT2 +35 more	Copy number gain	See cases	GBenign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	AADACL3, AADACL4 +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	C1orf159, C1orf167 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	PRAMEF7, PRAMEF8 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	ACAP3, ACOT7 +470 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	SDF4, SKI +464 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	ACAP3, ACOT7 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929186, LOC129929187 +577 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	ACAP3, ACOT7 +449 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	AADACL3, AADACL4 +557 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	TMEM201, TMEM240 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	ACAP3, ACOT7 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	PLEKHN1, PRDM16 +441 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	AADACL3, AADACL4 +505 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	AADACL3, AADACL4 +804 more	Copy number loss	See cases	GPathogenic

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