TAS2R14[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 3174042	NM_023922.2(TAS2R14):c.928C>T (p.His310Tyr)	PRH1, PRH1-PRR4 +2 more (H310Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397247	NM_023922.2(TAS2R14):c.880G>C (p.Val294Leu)	PRH1, PRH1-PRR4 +2 more (V153L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174041	NM_023922.2(TAS2R14):c.833G>A (p.Cys278Tyr)	PRH1, PRH1-PRR4 +2 more (C137Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601889	NM_023922.2(TAS2R14):c.790C>G (p.Leu264Val)	PRH1, PRH1-PRR4 +2 more (L264V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174040	NM_023922.2(TAS2R14):c.697G>A (p.Val233Met)	PRH1, PRH1-PRR4 +2 more (V233M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174039	NM_023922.2(TAS2R14):c.641A>G (p.His214Arg)	PRH1, PRH1-PRR4 +2 more (H214R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174038	NM_023922.2(TAS2R14):c.625C>G (p.Arg209Gly)	PRH1, PRH1-PRR4 +2 more (R209G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292296	NM_023922.2(TAS2R14):c.614T>C (p.Met205Thr)	PRH1, PRH1-PRR4 +2 more (M205T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791051	NM_023922.2(TAS2R14):c.609C>T (p.Phe203=)	PRH1, PRH1-PRR4 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2299913	NM_023922.2(TAS2R14):c.463A>T (p.Ser155Cys)	PRH1, PRH1-PRR4 +2 more (S155C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612767	NM_023922.2(TAS2R14):c.454A>C (p.Ile152Leu)	PRH1, PRH1-PRR4 +2 more (I152L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270715	NM_023922.2(TAS2R14):c.432T>A (p.Asn144Lys)	PRH1, PRH1-PRR4 +2 more (N144K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613025	NM_023922.2(TAS2R14):c.356T>G (p.Phe119Cys)	PRH1, PRH1-PRR4 +2 more (F119C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402539	NM_023922.2(TAS2R14):c.271G>A (p.Val91Met)	PRH1, PRH1-PRR4 +2 more (V91M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174036	NM_023922.2(TAS2R14):c.260A>G (p.Asn87Ser)	PRH1, PRH1-PRR4 +2 more (N87S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293076	NM_023922.2(TAS2R14):c.248G>A (p.Arg83Lys)	PRH1, PRH1-PRR4 +2 more (R83K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541093	NM_023922.2(TAS2R14):c.197G>T (p.Trp66Leu)	PRH1, PRH1-PRR4 +2 more (W66L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719366	NM_023922.2(TAS2R14):c.189C>T (p.Phe63=)	PRH1, PRH1-PRR4 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2344445	NM_023922.2(TAS2R14):c.164G>A (p.Arg55Gln)	PRH1, PRH1-PRR4 +2 more (R55Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477614	NM_023922.2(TAS2R14):c.163C>G (p.Arg55Gly)	PRH1, PRH1-PRR4 +2 more (R55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 740458	NM_023922.2(TAS2R14):c.87G>A (p.Leu29=)	PRH1, PRH1-PRR4 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717257	NM_023922.2(TAS2R14):c.15A>G (p.Ile5Met)	PRH1, PRH1-PRR4 +2 more (I5M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2684668	GRCh37/hg19 12p13.2(chr12:10588512-11788901)x3	KLRC1, KLRC2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	TAS2R43, YBX3 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 625596	GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	APOLD1, BCL2L14 +47 more	Copy number loss	Multiple endocrine neoplasia type 4	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	not provided	GPathogenic
Select item 563914	GRCh37/hg19 12p13.2(chr12:11043965-11260347)x4	PRH2, TAS2R13 +7 more	Copy number gain	not provided	GLikely benign
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 442129	GRCh37/hg19 12p13.2(chr12:11047687-11751920)x4	PRB1, PRB2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 60