MAX[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar

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Items: 27

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 2329191.	NM_002382.5(MAX):c.320C>A (p.Ser107Ter) GRCh37: Chr14:65543357 GRCh38: Chr14:65076639	MAX	S107, S98, S44, S40, S71*	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 17, 2015)	criteria provided, single submitter
Select item 16926532.	NM_002382.5(MAX):c.296-1G>T GRCh37: Chr14:65543382 GRCh38: Chr14:65076664	MAX		Hereditary cancer-predisposing syndrome	Likely pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 8349443.	NM_002382.5(MAX):c.295+2_295+3del GRCh37: Chr14:65544628-65544629 GRCh38: Chr14:65077910-65077911	MAX		Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 14589394.	NM_002382.5(MAX):c.295+1G>T GRCh37: Chr14:65544630 GRCh38: Chr14:65077912	MAX		Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1869935.	NM_002382.5(MAX):c.295+1G>A GRCh37: Chr14:65544630 GRCh38: Chr14:65077912	MAX		Hereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndrome	Pathogenic (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6586086.	NM_002382.5(MAX):c.289C>T (p.Gln97Ter) GRCh37: Chr14:65544637 GRCh38: Chr14:65077919	MAX	Q97, Q88, Q61*	Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic/Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 17951697.	NM_002382.5(MAX):c.271C>T (p.Gln91Ter) GRCh37: Chr14:65544655 GRCh38: Chr14:65077937	MAX	Q55, Q91, Q82*	Hereditary cancer-predisposing syndrome	Pathogenic (Feb 17, 2020)	criteria provided, single submitter
Select item 8071308.	NM_002382.5(MAX):c.262del (p.Leu88fs) GRCh37: Chr14:65544664 GRCh38: Chr14:65077946	MAX	L88fs, L79fs	not provided	Likely pathogenic (Jun 1, 2017)	criteria provided, single submitter
Select item 17914629.	NM_002382.5(MAX):c.244C>T (p.Gln82Ter) GRCh37: Chr14:65544682 GRCh38: Chr14:65077964	MAX	Q46, Q73, Q82*	Hereditary cancer-predisposing syndrome	Pathogenic (Apr 19, 2021)	criteria provided, single submitter
Select item 84212710.	NM_002382.5(MAX):c.242_243dup (p.Gln82fs) GRCh37: Chr14:65544682-65544683 GRCh38: Chr14:65077964-65077965	MAX	Q73fs, Q82fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 14167811.	NM_002382.5(MAX):c.233dup (p.Asn78fs) GRCh37: Chr14:65544692-65544693 GRCh38: Chr14:65077974-65077975	MAX	N78fs, N69fs	Hereditary cancer-predisposing syndrome, not provided	Pathogenic/Likely pathogenic (Dec 14, 2017)	criteria provided, multiple submitters, no conflicts
Select item 53251112.	NM_002382.5(MAX):c.228del (p.Asn78fs) GRCh37: Chr14:65544698 GRCh38: Chr14:65077980	MAX	N78fs, N69fs	Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Sep 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2978613.	NM_002382.5(MAX):c.223C>T (p.Arg75Ter) GRCh37: Chr14:65544703 GRCh38: Chr14:65077985	MAX	R75, R66, R39*	Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40411014.	NM_002382.5(MAX):c.211_221del (p.Ile71fs) GRCh37: Chr14:65544705-65544715 GRCh38: Chr14:65077987-65077997	MAX	I62fs, I71fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (May 3, 2016)	criteria provided, single submitter
Select item 53250715.	NM_002382.5(MAX):c.219T>A (p.Tyr73Ter) GRCh37: Chr14:65544707 GRCh38: Chr14:65077989	MAX	Y73, Y64, Y37*	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 23219816.	NM_002382.5(MAX):c.212T>A (p.Ile71Asn) GRCh37: Chr14:65544714 GRCh38: Chr14:65077996	MAX	I71N, I62N, I35N	Hereditary cancer-predisposing syndrome	Likely pathogenic (Jun 4, 2015)	criteria provided, single submitter
Select item 143610617.	NM_002382.5(MAX):c.205_206del (p.Glu69fs) GRCh37: Chr14:65544720-65544721 GRCh38: Chr14:65078002-65078003	MAX	E69fs, E60fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 18564618.	NM_002382.5(MAX):c.200C>A (p.Ala67Asp) GRCh37: Chr14:65544726 GRCh38: Chr14:65078008	MAX	A67D, A58D, A31D	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 212586719.	NM_002382.5(MAX):c.183_195del (p.Gln62fs) GRCh37: Chr14:65544731-65544743 GRCh38: Chr14:65078013-65078025	MAX	Q53fs, Q62fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 177916920.	NM_002382.5(MAX):c.173del (p.Ala58fs) GRCh37: Chr14:65544753 GRCh38: Chr14:65078035	MAX	A58fs, A49fs	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 10, 2015)	criteria provided, single submitter
Select item 177879321.	NM_002382.5(MAX):c.172-2A>G GRCh37: Chr14:65544756 GRCh38: Chr14:65078038	MAX		Hereditary cancer-predisposing syndrome	Pathogenic (Mar 16, 2021)	criteria provided, single submitter
Select item 64204122.	NC_000014.9:g.(?_65101536)_(65102349_?)del GRCh37: Chr14:65568254-65569067 GRCh38: Chr14:65101536-65102349	MAX		Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 41732523.	NC_000014.9:g.(?_65101546)_(65102544_?)del GRCh37: Chr14:65568264-65569262 GRCh38: Chr14:65101546-65102544	MAX		Hereditary pheochromocytoma-paraganglioma	Pathogenic (May 4, 2016)	criteria provided, single submitter
Select item 107594524.	NM_002382.5(MAX):c.55C>T (p.Gln19Ter) GRCh37: Chr14:65568272 GRCh38: Chr14:65101554	MAX	Q19*	Hereditary pheochromocytoma-paraganglioma, Pheochromocytoma	Pathogenic/Likely pathogenic (Feb 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 82106025.	NM_002382.5(MAX):c.22G>T (p.Glu8Ter) GRCh37: Chr14:65569036 GRCh38: Chr14:65102318	MAX	E8*	Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2978526.	NM_002382.5(MAX):c.1A>G (p.Met1Val) GRCh37: Chr14:65569057 GRCh38: Chr14:65102339	MAX	M1V	Hereditary cancer-predisposing syndrome	Pathogenic (Jan 26, 2018)	criteria provided, single submitter
Select item 83322827.	NC_000014.9:g.(?_65093698)_(65102349_?)del GRCh37: Chr14:65560416-65569067	MAX		Hereditary pheochromocytoma-paraganglioma	Pathogenic (Mar 7, 2019)	criteria provided, single submitter

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Items: 27