TAS2R46[gene] - ClinVar

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Items: 69

	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	FERRY3, FGD4 +4837 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 152633	GRCh38/hg38 12p13.2(chr12:11040075-11121039)x1	LOC129390400, PRH1 +4 more	Copy number loss	See cases	GBenign
Select item 3324491	NM_176887.2(TAS2R46):c.922T>C (p.Ser308Pro)	PRH1, PRH1-PRR4 +2 more (S308P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568275	NM_176887.2(TAS2R46):c.914A>G (p.Lys305Arg)	PRH1, PRH1-PRR4 +2 more (K305R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349244	NM_176887.2(TAS2R46):c.894G>T (p.Arg298Ser)	PRH1, PRH1-PRR4 +2 more (R298S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324492	NM_176887.2(TAS2R46):c.845G>T (p.Gly282Val)	PRH1, PRH1-PRR4 +2 more (G282V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395923	NM_176887.2(TAS2R46):c.821C>T (p.Thr274Ile)	PRH1, PRH1-PRR4 +2 more (T274I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260734	NM_176887.2(TAS2R46):c.814C>A (p.Pro272Thr)	PRH1, PRH1-PRR4 +2 more (P272T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174115	NM_176887.2(TAS2R46):c.802G>C (p.Ala268Pro)	PRH1, PRH1-PRR4 +2 more (A268P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599418	NM_176887.2(TAS2R46):c.698C>T (p.Ser233Phe)	PRH1, PRH1-PRR4 +2 more (S233F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330102	NM_176887.2(TAS2R46):c.694A>T (p.Thr232Ser)	PRH1, PRH1-PRR4 +2 more (T232S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287796	NM_176887.2(TAS2R46):c.647C>T (p.Ser216Phe)	PRH1, PRH1-PRR4 +2 more (S216F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250596	NM_176887.2(TAS2R46):c.507G>T (p.Arg169Ser)	PRH1, PRH1-PRR4 +2 more (R169S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297826	NM_176887.2(TAS2R46):c.499A>C (p.Lys167Gln)	PRH1, PRH1-PRR4 +2 more (K167Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359901	NM_176887.2(TAS2R46):c.410T>C (p.Leu137Ser)	PRH1, PRH1-PRR4 +2 more (L137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274325	NM_176887.2(TAS2R46):c.312A>G (p.Ile104Met)	PRH1, PRH1-PRR4 +2 more (I104M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247247	NM_176887.2(TAS2R46):c.301A>G (p.Ser101Gly)	PRH1, PRH1-PRR4 +2 more (S101G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324488	NM_176887.2(TAS2R46):c.292C>T (p.Leu98Phe)	PRH1, PRH1-PRR4 +2 more (L98F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301988	NM_176887.2(TAS2R46):c.271A>G (p.Ile91Val)	PRH1, PRH1-PRR4 +2 more (I91V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174114	NM_176887.2(TAS2R46):c.265G>A (p.Ala89Thr)	PRH1, PRH1-PRR4 +2 more (A89T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3174113	NM_176887.2(TAS2R46):c.170G>A (p.Gly57Asp)	PRH1, PRH1-PRR4 +2 more (G57D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174112	NM_176887.2(TAS2R46):c.138A>C (p.Gln46His)	PRH1, PRH1-PRR4 +2 more (Q46H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324490	NM_176887.2(TAS2R46):c.110A>G (p.Lys37Arg)	PRH1, PRH1-PRR4 +2 more (K37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642702	NM_176887.2(TAS2R46):c.99T>C (p.Ile33=)	PRH1, PRH1-PRR4 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3324489	NM_176887.2(TAS2R46):c.98T>C (p.Ile33Thr)	PRH1, PRH1-PRR4 +2 more (I33T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268146	NM_176887.2(TAS2R46):c.86T>C (p.Leu29Ser)	PRH1-PRR4, PRH1-TAS2R14 +2 more (L29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174116	NM_176887.2(TAS2R46):c.85T>A (p.Leu29Met)	PRH1, PRH1-PRR4 +2 more (L29M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642703	NM_176887.2(TAS2R46):c.84A>G (p.Ala28=)	PRH1, PRH1-PRR4 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2395790	NM_176887.2(TAS2R46):c.70A>C (p.Asn24His)	PRH1, PRH1-PRR4 +2 more (N24H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642704	NM_176887.2(TAS2R46):c.54G>T (p.Val18=)	PRH1, PRH1-PRR4 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642705	NM_176887.2(TAS2R46):c.24T>A (p.Ile8=)	PRH1, PRH1-PRR4 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3174111	NM_176887.2(TAS2R46):c.12T>G (p.Phe4Leu)	PRH1, PRH1-PRR4 +2 more (F4L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	C12orf60, 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)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +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	GALNT8, H2AJ +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: 69