ClinVar for Gene (Select 54429) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3174122	NM_018980.3(TAS2R5):c.893G>C (p.Gly298Ala)	TAS2R5 (G298A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174121	NM_018980.3(TAS2R5):c.878C>T (p.Ala293Val)	TAS2R5 (A293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174120	NM_018980.3(TAS2R5):c.71A>G (p.Asn24Ser)	TAS2R5 (N24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174119	NM_018980.3(TAS2R5):c.334C>T (p.Arg112Cys)	TAS2R5 (R112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174118	NM_018980.3(TAS2R5):c.226C>T (p.Arg76Cys)	TAS2R5 (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174117	NM_018980.3(TAS2R5):c.119A>C (p.Asn40Thr)	TAS2R5 (N40T)	Single nucleotide variant (missense variant)	not specified	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	SSBP1, TAS2R3 +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 2600966	NM_018980.3(TAS2R5):c.782T>C (p.Met261Thr)	TAS2R5 (M261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592891	NM_018980.3(TAS2R5):c.476G>A (p.Arg159Gln)	TAS2R5 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590056	NM_018980.3(TAS2R5):c.155C>T (p.Ala52Val)	TAS2R5 (A52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	C7orf33, CASP2 +125 more	Copy number loss	not provided	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 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2528654	NM_018980.3(TAS2R5):c.722C>G (p.Ser241Cys)	TAS2R5 (S241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519528	NM_018980.3(TAS2R5):c.793C>T (p.Pro265Ser)	TAS2R5 (P265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516989	NM_018980.3(TAS2R5):c.335G>A (p.Arg112His)	TAS2R5 (R112H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493644	NM_018980.3(TAS2R5):c.271G>A (p.Ala91Thr)	TAS2R5 (A91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490107	NM_018980.3(TAS2R5):c.596A>C (p.His199Pro)	TAS2R5 (H199P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2406620	NM_018980.3(TAS2R5):c.791A>T (p.Tyr264Phe)	TAS2R5 (Y264F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402619	NM_018980.3(TAS2R5):c.394G>A (p.Gly132Ser)	TAS2R5 (G132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389160	NM_018980.3(TAS2R5):c.628A>G (p.Arg210Gly)	TAS2R5 (R210G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369165	NM_018980.3(TAS2R5):c.733A>G (p.Lys245Glu)	TAS2R5 (K245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361211	NM_018980.3(TAS2R5):c.680T>G (p.Phe227Cys)	TAS2R5 (F227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249565	NM_018980.3(TAS2R5):c.121T>C (p.Trp41Arg)	TAS2R5 (W41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246465	NM_018980.3(TAS2R5):c.50T>G (p.Phe17Cys)	TAS2R5 (F17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +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	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 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 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 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 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 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 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 66