ClinVar for Gene (Select 83756) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324457	NM_152228.3(TAS1R3):c.999G>C (p.Glu333Asp)	TAS1R3 (E333D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324456	NM_152228.3(TAS1R3):c.1483C>T (p.Pro495Ser)	TAS1R3 (P495S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324455	NM_152228.3(TAS1R3):c.1492C>T (p.Arg498Trp)	TAS1R3 (R498W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324454	NM_152228.3(TAS1R3):c.905C>A (p.Ala302Asp)	TAS1R3 (A302D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324453	NM_152228.3(TAS1R3):c.369C>T (p.Arg123=)	TAS1R3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3324452	NM_152228.3(TAS1R3):c.2503G>A (p.Gly835Arg)	TAS1R3 (G835R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324451	NM_152228.3(TAS1R3):c.1525C>A (p.Arg509Ser)	TAS1R3 (R509S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324450	NM_152228.3(TAS1R3):c.691G>A (p.Ala231Thr)	TAS1R3 (A231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324449	NM_152228.3(TAS1R3):c.2477C>G (p.Pro826Arg)	TAS1R3 (P826R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324448	NM_152228.3(TAS1R3):c.311C>G (p.Ser104Trp)	TAS1R3 (S104W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324447	NM_152228.3(TAS1R3):c.682G>A (p.Ala228Thr)	TAS1R3 (A228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324446	NM_152228.3(TAS1R3):c.2435C>G (p.Pro812Arg)	TAS1R3 (P812R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324445	NM_152228.3(TAS1R3):c.775G>A (p.Val259Ile)	TAS1R3 (V259I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324444	NM_152228.3(TAS1R3):c.1378G>A (p.Val460Met)	TAS1R3 (V460M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324443	NM_152228.3(TAS1R3):c.1328G>A (p.Arg443Gln)	TAS1R3 (R443Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324442	NM_152228.3(TAS1R3):c.1042C>T (p.Pro348Ser)	TAS1R3 (P348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3174019	NM_152228.3(TAS1R3):c.986C>T (p.Ala329Val)	TAS1R3 (A329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174018	NM_152228.3(TAS1R3):c.931G>C (p.Gly311Arg)	TAS1R3 (G311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174017	NM_152228.3(TAS1R3):c.731C>T (p.Pro244Leu)	TAS1R3 (P244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174016	NM_152228.3(TAS1R3):c.694G>A (p.Ala232Thr)	TAS1R3 (A232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174014	NM_152228.3(TAS1R3):c.649G>A (p.Glu217Lys)	TAS1R3 (E217K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174013	NM_152228.3(TAS1R3):c.58G>A (p.Gly20Arg)	TAS1R3 (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174011	NM_152228.3(TAS1R3):c.508A>T (p.Ser170Cys)	TAS1R3 (S170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174010	NM_152228.3(TAS1R3):c.444G>C (p.Glu148Asp)	TAS1R3 (E148D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174009	NM_152228.3(TAS1R3):c.373A>G (p.Ile125Val)	TAS1R3 (I125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174008	NM_152228.3(TAS1R3):c.352G>A (p.Ala118Thr)	TAS1R3 (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174007	NM_152228.3(TAS1R3):c.255C>G (p.Asn85Lys)	TAS1R3 (N85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174006	NM_152228.3(TAS1R3):c.2509G>A (p.Ala837Thr)	TAS1R3 (A837T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174005	NM_152228.3(TAS1R3):c.2419G>C (p.Ala807Pro)	TAS1R3 (A807P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174004	NM_152228.3(TAS1R3):c.2255G>A (p.Arg752Gln)	TAS1R3 (R752Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174003	NM_152228.3(TAS1R3):c.2198C>A (p.Ala733Glu)	TAS1R3 (A733E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174001	NM_152228.3(TAS1R3):c.1780C>T (p.Arg594Trp)	TAS1R3 (R594W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174000	NM_152228.3(TAS1R3):c.1753G>A (p.Ala585Thr)	TAS1R3 (A585T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173999	NM_152228.3(TAS1R3):c.1649G>A (p.Arg550Gln)	TAS1R3 (R550Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173997	NM_152228.3(TAS1R3):c.1588C>T (p.Arg530Trp)	TAS1R3 (R530W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173996	NM_152228.3(TAS1R3):c.1496G>T (p.Cys499Phe)	TAS1R3 (C499F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173995	NM_152228.3(TAS1R3):c.1472A>G (p.Asp491Gly)	TAS1R3 (D491G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173994	NM_152228.3(TAS1R3):c.1438A>T (p.Thr480Ser)	TAS1R3 (T480S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173993	NM_152228.3(TAS1R3):c.1436G>A (p.Arg479Lys)	TAS1R3 (R479K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173991	NM_152228.3(TAS1R3):c.1343G>C (p.Gly448Ala)	TAS1R3 (G448A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173990	NM_152228.3(TAS1R3):c.1333G>A (p.Asp445Asn)	TAS1R3 (D445N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173989	NM_152228.3(TAS1R3):c.1244G>A (p.Cys415Tyr)	TAS1R3 (C415Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173988	NM_152228.3(TAS1R3):c.1120G>T (p.Asp374Tyr)	TAS1R3 (D374Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173987	NM_152228.3(TAS1R3):c.1089G>C (p.Glu363Asp)	TAS1R3 (E363D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173986	NM_152228.3(TAS1R3):c.1064G>A (p.Gly355Asp)	TAS1R3 (G355D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173985	NM_152228.3(TAS1R3):c.1057G>A (p.Ala353Thr)	TAS1R3 (A353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173984	NM_152228.3(TAS1R3):c.1012G>A (p.Val338Met)	TAS1R3 (V338M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	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 2685790	GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	MMP23B, SSU72 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685277	GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	TMEM88B, UBE2J2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
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 2672318	NM_152228.3(TAS1R3):c.2407C>T (p.Leu803=)	TAS1R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638002	NM_152228.3(TAS1R3):c.2370G>A (p.Arg790=)	TAS1R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638001	NM_152228.3(TAS1R3):c.1578G>A (p.Ala526=)	TAS1R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621393	NM_152228.3(TAS1R3):c.1373T>C (p.Leu458Pro)	TAS1R3 (L458P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620336	NM_152228.3(TAS1R3):c.1593A>T (p.Gln531His)	TAS1R3 (Q531H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615404	NM_152228.3(TAS1R3):c.1811G>A (p.Gly604Glu)	TAS1R3 (G604E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614984	NM_152228.3(TAS1R3):c.262G>A (p.Asp88Asn)	TAS1R3 (D88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611905	NM_152228.3(TAS1R3):c.1696G>A (p.Glu566Lys)	TAS1R3 (E566K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609646	NM_152228.3(TAS1R3):c.155G>A (p.Arg52His)	TAS1R3 (R52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607332	NM_152228.3(TAS1R3):c.295C>T (p.Leu99Phe)	TAS1R3 (L99F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591516	NM_152228.3(TAS1R3):c.1147G>A (p.Ala383Thr)	TAS1R3 (A383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588607	NM_152228.3(TAS1R3):c.1408G>A (p.Asp470Asn)	TAS1R3 (D470N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2559043	NM_152228.3(TAS1R3):c.937C>G (p.Pro313Ala)	TAS1R3 (P313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554495	NM_152228.3(TAS1R3):c.986C>G (p.Ala329Gly)	TAS1R3 (A329G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549882	NM_152228.3(TAS1R3):c.584C>T (p.Thr195Met)	TAS1R3 (T195M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545060	NM_152228.3(TAS1R3):c.1262T>G (p.Val421Gly)	TAS1R3 (V421G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543607	NM_152228.3(TAS1R3):c.781C>T (p.His261Tyr)	TAS1R3 (H261Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543447	NM_152228.3(TAS1R3):c.1234G>A (p.Ala412Thr)	TAS1R3 (A412T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538504	NM_152228.3(TAS1R3):c.736C>A (p.Pro246Thr)	TAS1R3 (P246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537971	NM_152228.3(TAS1R3):c.655G>A (p.Gly219Ser)	TAS1R3 (G219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530907	NM_152228.3(TAS1R3):c.1843G>A (p.Gly615Ser)	TAS1R3 (G615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529573	NM_152228.3(TAS1R3):c.621C>G (p.Asn207Lys)	TAS1R3 (N207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526131	NM_152228.3(TAS1R3):c.701G>T (p.Gly234Val)	TAS1R3 (G234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521648	NM_152228.3(TAS1R3):c.238G>A (p.Val80Met)	TAS1R3 (V80M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512235	NM_152228.3(TAS1R3):c.260C>T (p.Ser87Leu)	TAS1R3 (S87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511733	NM_152228.3(TAS1R3):c.818T>C (p.Leu273Pro)	TAS1R3 (L273P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509020	NM_152228.3(TAS1R3):c.1525C>T (p.Arg509Cys)	TAS1R3 (R509C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508936	NM_152228.3(TAS1R3):c.2029C>G (p.Arg677Gly)	TAS1R3 (R677G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507767	NM_152228.3(TAS1R3):c.1885A>G (p.Ser629Gly)	TAS1R3 (S629G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2494107	NM_152228.3(TAS1R3):c.1130C>T (p.Thr377Met)	TAS1R3 (T377M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493555	NM_152228.3(TAS1R3):c.1115A>G (p.Gln372Arg)	TAS1R3 (Q372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472213	NM_152228.3(TAS1R3):c.529C>T (p.Arg177Trp)	TAS1R3 (R177W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469989	NM_152228.3(TAS1R3):c.1672A>G (p.Arg558Gly)	TAS1R3 (R558G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468601	NM_152228.3(TAS1R3):c.1589G>A (p.Arg530Gln)	TAS1R3 (R530Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466684	NM_152228.3(TAS1R3):c.1401G>C (p.Arg467Ser)	TAS1R3 (R467S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463023	NM_152228.3(TAS1R3):c.1558G>A (p.Asp520Asn)	TAS1R3 (D520N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458053	NM_152228.3(TAS1R3):c.284T>C (p.Leu95Pro)	TAS1R3 (L95P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425111	NC_000001.10:g.(?_1249188)_(1284445_?)dup	CPTP, DVL1 +2 more	Duplication	not provided	GUncertain significance
Select item 2410764	NM_152228.3(TAS1R3):c.1486G>A (p.Val496Met)	TAS1R3 (V496M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410430	NM_152228.3(TAS1R3):c.1673G>A (p.Arg558Lys)	TAS1R3 (R558K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399248	NM_152228.3(TAS1R3):c.526G>A (p.Ala176Thr)	TAS1R3 (A176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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