TAS2R38[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	LOC123956263, LOC126860190 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	ADCK2, AGK +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129389950, LOC129999513 +707 more	Copy number loss	See cases	GPathogenic
Select item 2396049	NM_176817.5(TAS2R38):c.989G>C (p.Arg330Pro)	TAS2R38 (R330P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596978	NM_176817.5(TAS2R38):c.986C>G (p.Ser329Cys)	TAS2R38 (S329C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281700	NM_176817.5(TAS2R38):c.960G>T (p.Lys320Asn)	TAS2R38 (K320N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658096	NM_176817.5(TAS2R38):c.945T>C (p.Ala315=)	TAS2R38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906	NM_176817.5(TAS2R38):c.886A>G (p.Ile296Val)	TAS2R38 (I296V)	Single nucleotide variant (missense variant)	Phenylthiocarbamide tasting	Gdrug response
Select item 2560948	NM_176817.5(TAS2R38):c.836T>A (p.Val279Glu)	TAS2R38 (V279E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2905	NM_176817.5(TAS2R38):c.785= (p.Ala262=)	TAS2R38	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 2306952	NM_176817.5(TAS2R38):c.704G>A (p.Arg235His)	TAS2R38 (R235H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223580	NM_176817.5(TAS2R38):c.669C>A (p.His223Gln)	TAS2R38 (H223Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517014	NM_176817.5(TAS2R38):c.649A>C (p.Thr217Pro)	TAS2R38 (T217P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403188	NM_176817.5(TAS2R38):c.645G>A (p.Met215Ile)	TAS2R38 (M215I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462320	NM_176817.5(TAS2R38):c.544C>T (p.Leu182Phe)	TAS2R38 (L182F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2269774	NM_176817.5(TAS2R38):c.530A>G (p.Asn177Ser)	TAS2R38 (N177S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335509	NM_176817.5(TAS2R38):c.492C>A (p.Ser164Arg)	TAS2R38 (S164R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495751	NM_176817.5(TAS2R38):c.467T>C (p.Val156Ala)	TAS2R38 (V156A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280093	NM_176817.5(TAS2R38):c.458T>A (p.Ile153Asn)	TAS2R38 (I153N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518992	NM_176817.5(TAS2R38):c.417G>C (p.Lys139Asn)	TAS2R38 (K139N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454958	NM_176817.5(TAS2R38):c.291G>A (p.Met97Ile)	TAS2R38 (M97I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618489	NM_176817.5(TAS2R38):c.221G>C (p.Ser74Thr)	TAS2R38 (S74T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2904	NM_176817.5(TAS2R38):c.145G>C (p.Ala49Pro)	TAS2R38 (A49P)	Single nucleotide variant (missense variant)	Phenylthiocarbamide tasting	Gdrug response
Select item 2317328	NM_176817.5(TAS2R38):c.133G>A (p.Val45Met)	TAS2R38 (V45M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248610	NM_176817.5(TAS2R38):c.23G>A (p.Arg8His)	TAS2R38 (R8H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3024642	GRCh37/hg19 7q34(chr7:140426294-141883173)x1	AGK, BRAF +13 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	KRBA1, LLCFC1 +125 more	Copy number loss	not provided	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	ADCK2, AGK +34 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ZC3HAV1, ZC3HAV1L +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	ADCK2, AGBL3 +105 more	Copy number loss	Small face +7 more	GPathogenic
Select item 973567	NC_000007.13:g.141443350_142460881dup	CLEC5A, MGAM +11 more	Duplication	Hereditary pancreatitis	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	ABCB8, ABCF2 +166 more	Copy number gain	See cases	GPathogenic

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Items: 68