TAS2R31[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 57

	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 2462555	NM_176885.2(TAS2R31):c.926C>T (p.Pro309Leu)	PRH1, PRH1-PRR4 +2 more (P309L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174080	NM_176885.2(TAS2R31):c.856C>G (p.Leu286Val)	PRH1, PRH1-PRR4 +2 more (L286V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341075	NM_176885.2(TAS2R31):c.840T>G (p.Ile280Met)	PRH1, PRH1-PRR4 +2 more (I280M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257170	NM_176885.2(TAS2R31):c.826C>G (p.Pro276Ala)	PRH1, PRH1-PRR4 +2 more (P276A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2341314	NM_176885.2(TAS2R31):c.815C>T (p.Pro272Leu)	PRH1, PRH1-PRR4 +2 more (P272L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174079	NM_176885.2(TAS2R31):c.643G>A (p.Gly215Arg)	PRH1, PRH1-PRR4 +2 more (G215R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470478	NM_176885.2(TAS2R31):c.559C>T (p.Pro187Ser)	PRH1, PRH1-PRR4 +2 more (P187S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208677	NM_176885.2(TAS2R31):c.483C>A (p.Asn161Lys)	PRH1-PRR4, PRH1-TAS2R14 +2 more (N161K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347037	NM_176885.2(TAS2R31):c.464C>A (p.Thr155Lys)	PRH1, PRH1-PRR4 +2 more (T155K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328059	NM_176885.2(TAS2R31):c.446T>C (p.Met149Thr)	PRH1, PRH1-PRR4 +2 more (M149T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369482	NM_176885.2(TAS2R31):c.334A>T (p.Asn112Tyr)	PRH1-TAS2R14, PRH1 +2 more (N112Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371226	NM_176885.2(TAS2R31):c.298A>G (p.Thr100Ala)	PRH1, PRH1-PRR4 +2 more (T100A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324470	NM_176885.2(TAS2R31):c.254A>G (p.Tyr85Cys)	PRH1, PRH1-PRR4 +2 more (Y85C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174076	NM_176885.2(TAS2R31):c.251C>T (p.Ala84Val)	PRH1, PRH1-PRR4 +2 more (A84V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2380867	NM_176885.2(TAS2R31):c.104G>A (p.Arg35Gln)	PRH1, PRH1-PRR4 +2 more (R35Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600393	NM_176885.2(TAS2R31):c.56T>C (p.Ile19Thr)	PRH1, PRH1-PRR4 +2 more (I19T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358445	NM_176885.2(TAS2R31):c.40G>A (p.Val14Met)	PRH1, PRH1-PRR4 +2 more (V14M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174077	NM_176885.2(TAS2R31):c.37G>A (p.Val13Ile)	PRH1, PRH1-PRR4 +2 more (V13I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292026	NM_176885.2(TAS2R31):c.35T>A (p.Val12Glu)	PRH1, PRH1-PRR4 +2 more (V12E)	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	CREBL2, DDX47 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57