ClinVar for MedGen (Select 1719353) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24316681.	NM_033004.4(NLRP1):c.2961-3C>T GRCh37: Chr17:5437311 GRCh38: Chr17:5533991	NLRP1		Respiratory papillomatosis, juvenile recurrent, congenital	Uncertain significance (Dec 2, 2022)	criteria provided, single submitter
Select item 14428882.	NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly) GRCh37: Chr17:5462976 GRCh38: Chr17:5559656	NLRP1	V347G	Autoinflammation with arthritis and dyskeratosis, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Vitiligo-associated multiple autoimmune disease susceptibility 1, Respiratory papillomatosis, juvenile recurrent, congenital, Autoinflammation with arthritis and dyskeratosis, not provided	Uncertain significance (May 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14412873.	NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met) GRCh37: Chr17:5433983 GRCh38: Chr17:5530663	NLRP1	T1083M, T1113M, T1117M	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Respiratory papillomatosis, juvenile recurrent, congenital, Autoinflammation with arthritis and dyskeratosis, Vitiligo-associated multiple autoimmune disease susceptibility 1, not provided	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13667604.	NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu) GRCh37: Chr17:5487114 GRCh38: Chr17:5583794	NLRP1	S55L	Autoinflammation with arthritis and dyskeratosis, Respiratory papillomatosis, juvenile recurrent, congenital, Vitiligo-associated multiple autoimmune disease susceptibility 1, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10971015.	NM_033004.4(NLRP1):c.3228C>T (p.Asp1076=) GRCh37: Chr17:5436210 GRCh38: Chr17:5532890	NLRP1		Vitiligo-associated multiple autoimmune disease susceptibility 1, Respiratory papillomatosis, juvenile recurrent, congenital, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Autoinflammation with arthritis and dyskeratosis, not provided	Likely benign (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10167156.	NM_033004.4(NLRP1):c.439C>T (p.Arg147Cys) GRCh37: Chr17:5485999 GRCh38: Chr17:5582679	NLRP1	R147C	not provided, Vitiligo-associated multiple autoimmune disease susceptibility 1, Respiratory papillomatosis, juvenile recurrent, congenital, Autoinflammation with arthritis and dyskeratosis, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	Uncertain significance (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8275817.	NM_033004.4(NLRP1):c.2264C>A (p.Thr755Asn) GRCh37: Chr17:5461752 GRCh38: Chr17:5558432	NLRP1	T755N	Respiratory papillomatosis, juvenile recurrent, congenital	Pathogenic (May 10, 2023)	no assertion criteria provided
Select item 8082098.	NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln) GRCh37: Chr17:5463093 GRCh38: Chr17:5559773	NLRP1	R308Q	not provided, Vitiligo-associated multiple autoimmune disease susceptibility 1, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Autoinflammation with arthritis and dyskeratosis, Respiratory papillomatosis, juvenile recurrent, congenital	Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 7707959.	NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg) GRCh37: Chr17:5486122 GRCh38: Chr17:5582802	NLRP1	G106R	Vitiligo-associated multiple autoimmune disease susceptibility 1, Respiratory papillomatosis, juvenile recurrent, congenital, Autoinflammation with arthritis and dyskeratosis, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, not provided	Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 73417310.	NM_033004.4(NLRP1):c.272-7C>G GRCh37: Chr17:5486173 GRCh38: Chr17:5582853	NLRP1		Vitiligo-associated multiple autoimmune disease susceptibility 1, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Respiratory papillomatosis, juvenile recurrent, congenital, Autoinflammation with arthritis and dyskeratosis, not provided	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40324111.	NM_033004.4(NLRP1):c.114G>C (p.Ser38=) GRCh37: Chr17:5487164 GRCh38: Chr17:5583844	NLRP1		Respiratory papillomatosis, juvenile recurrent, congenital, not specified, Autoinflammation with arthritis and dyskeratosis, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, not provided	Benign (Nov 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 40324012.	NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val) GRCh37: Chr17:5425077 GRCh38: Chr17:5521757	NLRP1	M1184V, M1188V, M1154V	not provided, Respiratory papillomatosis, juvenile recurrent, congenital, not specified, Autoinflammation with arthritis and dyskeratosis, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	Benign (Nov 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 416313.	NM_033004.4(NLRP1):c.464T>A (p.Leu155His) GRCh37: Chr17:5485367 GRCh38: Chr17:5582047	NLRP1	L155H	Respiratory papillomatosis, juvenile recurrent, congenital, Autoinflammation with arthritis and dyskeratosis, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, not specified, not provided	Benign (Nov 12, 2023)	criteria provided, multiple submitters, no conflicts