TAS2R50[gene] - ClinVar

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Items: 56

	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	ACAD10, ACADS +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 3174125	NM_176890.2(TAS2R50):c.848C>T (p.Thr283Ile)	PRH1, PRH1-PRR4 +2 more (T283I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324361	NM_176890.2(TAS2R50):c.829T>A (p.Phe277Ile)	PRH1, PRH1-PRR4 +2 more (F277I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174124	NM_176890.2(TAS2R50):c.815T>C (p.Leu272Pro)	PRH1, PRH1-PRR4 +2 more (L272P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2266155	NM_176890.2(TAS2R50):c.814C>A (p.Leu272Ile)	PRH1, PRH1-PRR4 +2 more (L272I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402182	NM_176890.2(TAS2R50):c.785T>C (p.Met262Thr)	PRH1, PRH1-PRR4 +2 more (M262T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544848	NM_176890.2(TAS2R50):c.776C>T (p.Pro259Leu)	PRH1, PRH1-PRR4 +2 more (P259L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282837	NM_176890.2(TAS2R50):c.712T>C (p.Cys238Arg)	PRH1, PRH1-PRR4 +2 more (C238R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543946	NM_176890.2(TAS2R50):c.647C>T (p.Ser216Leu)	PRH1, PRH1-PRR4 +2 more (S216L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338801	NM_176890.2(TAS2R50):c.635A>G (p.His212Arg)	PRH1, PRH1-PRR4 +2 more (H212R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363851	NM_176890.2(TAS2R50):c.615T>A (p.His205Gln)	PRH1, PRH1-PRR4 +2 more (H205Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463493	NM_176890.2(TAS2R50):c.556A>T (p.Ile186Leu)	PRH1, PRH1-PRR4 +2 more (I186L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399371	NM_176890.2(TAS2R50):c.370A>G (p.Arg124Gly)	PRH1, PRH1-PRR4 +2 more (R124G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174123	NM_176890.2(TAS2R50):c.368G>A (p.Arg123Lys)	PRH1, PRH1-PRR4 +2 more (R123K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493597	NM_176890.2(TAS2R50):c.340T>C (p.Ser114Pro)	PRH1, PRH1-PRR4 +2 more (S114P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261603	NM_176890.2(TAS2R50):c.167T>C (p.Ile56Thr)	PRH1, PRH1-PRR4 +2 more (I56T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314351	NM_176890.2(TAS2R50):c.116A>G (p.Lys39Arg)	PRH1, PRH1-PRR4 +2 more (K39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714507	NM_176890.2(TAS2R50):c.87G>C (p.Leu29=)	PRH1, PRH1-PRR4 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2292732	NM_176890.2(TAS2R50):c.83C>T (p.Ala28Val)	PRH1, PRH1-PRR4 +2 more (A28V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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: 56