TAS1R3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929093, LOC129929110 +282 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152695	GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	ACAP3, AGRN +254 more	Copy number loss	See cases	GPathogenic
Select item 152675	GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	LOC129929104, LOC129929105 +249 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 151110	GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	ACAP3, AGRN +243 more	Copy number loss	See cases	GPathogenic
Select item 150995	GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	ACAP3, ACTRT2 +275 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 148829	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	ACAP3, AGRN +238 more	Copy number gain	See cases	GUncertain significance
Select item 148825	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	ACAP3, AGRN +238 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +244 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58292	GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	ACAP3, AGRN +205 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57201	GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	LOC129929161, LOC129929162 +252 more	Copy number loss	See cases	GPathogenic
Select item 57120	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	LOC129929114, LOC129929115 +244 more	Copy number loss	See cases	GPathogenic
Select item 57052	GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	ACAP3, ACTRT2 +270 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 149739	GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	ACAP3, ACTRT2 +260 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 145356	GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	ACAP3, ACTRT2 +274 more	Copy number loss	See cases	GPathogenic
Select item 144576	GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	ACAP3, AGRN +234 more	Copy number loss	See cases	GPathogenic
Select item 58293	GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	ACAP3, AGRN +237 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58316	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	ACAP3, AGRN +246 more	Copy number loss	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 58313	GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	LOC126805582, LOC129388419 +253 more	Copy number loss	See cases	GPathogenic
Select item 58312	GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	ACAP3, AGRN +198 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154687	GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	ACAP3, AGRN +247 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 155157	GRCh38/hg38 1p36.33(chr1:914086-1613769)x1	ACAP3, AGRN +146 more	Copy number loss	See cases	GPathogenic
Select item 154003	GRCh38/hg38 1p36.33(chr1:914086-1538895)x1	ACAP3, AGRN +136 more	Copy number loss	See cases	GLikely pathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +277 more	Copy number loss	See cases	GPathogenic
Select item 152333	GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	ACAP3, ACTRT2 +264 more	Copy number loss	See cases	GPathogenic
Select item 152331	GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	LOC129929169, LOC129929170 +231 more	Copy number loss	See cases	GPathogenic
Select item 145604	GRCh38/hg38 1p36.33(chr1:932163-1792271)x4	ACAP3, AGRN +168 more	Copy number gain	See cases	GLikely benign
Select item 144721	GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1	ACAP3, AGRN +137 more	Copy number loss	See cases	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149947	GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	ACAP3, ANKRD65 +209 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	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 2224048	NM_152228.3(TAS1R3):c.97G>C (p.Gly33Arg)	TAS1R3 (G33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224046	NM_152228.3(TAS1R3):c.121T>A (p.Phe41Ile)	TAS1R3 (F41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726128	NM_152228.3(TAS1R3):c.138C>T (p.Ala46=)	TAS1R3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2209511	NM_152228.3(TAS1R3):c.161G>A (p.Arg54Gln)	TAS1R3 (R54Q)	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 3174007	NM_152228.3(TAS1R3):c.255C>G (p.Asn85Lys)	TAS1R3 (N85K)	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 2614984	NM_152228.3(TAS1R3):c.262G>A (p.Asp88Asn)	TAS1R3 (D88N)	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 2607332	NM_152228.3(TAS1R3):c.295C>T (p.Leu99Phe)	TAS1R3 (L99F)	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 2257545	NM_152228.3(TAS1R3):c.341T>C (p.Leu114Pro)	TAS1R3 (L114P)	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 3324453	NM_152228.3(TAS1R3):c.369C>T (p.Arg123=)	TAS1R3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2315118	NM_152228.3(TAS1R3):c.379G>A (p.Ala127Thr)	TAS1R3 (A127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259964	NM_152228.3(TAS1R3):c.395C>T (p.Thr132Met)	TAS1R3 (T132M)	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 2333204	NM_152228.3(TAS1R3):c.454G>A (p.Val152Ile)	TAS1R3 (V152I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348619	NM_152228.3(TAS1R3):c.455T>C (p.Val152Ala)	TAS1R3 (V152A)	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 2399248	NM_152228.3(TAS1R3):c.526G>A (p.Ala176Thr)	TAS1R3 (A176T)	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 2358025	NM_152228.3(TAS1R3):c.530G>A (p.Arg177Gln)	TAS1R3 (R177Q)	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 2323684	NM_152228.3(TAS1R3):c.589G>A (p.Ala197Thr)	TAS1R3 (A197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732337	NM_152228.3(TAS1R3):c.593C>T (p.Ala198Val)	TAS1R3 (A198V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2340049	NM_152228.3(TAS1R3):c.646G>A (p.Asp216Asn)	TAS1R3 (D216N)	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

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