ClinVar for MedGen (Select 1380109) - ClinVar - NCBI

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Items: 18

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24443161.	NM_033004.4(NLRP1):c.3568G>A (p.Glu1190Lys) GRCh37: Chr17:5425059 GRCh38: Chr17:5521739	NLRP1	E1160K, E1190K, E1194K	Autoinflammation with arthritis and dyskeratosis	Uncertain significance (Feb 23, 2023)	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 14170184.	NM_033004.4(NLRP1):c.3788T>C (p.Ile1263Thr) GRCh37: Chr17:5424328 GRCh38: Chr17:5521008	NLRP1	I1233T, I1267T, I1263T	Autoinflammation with arthritis and dyskeratosis, not provided	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13667605.	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 10971016.	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 10315297.	NM_033004.4(NLRP1):c.1580G>A (p.Cys527Tyr) GRCh37: Chr17:5462436 GRCh38: Chr17:5559116	NLRP1	C527Y	Autoinflammation with arthritis and dyskeratosis, not provided	Uncertain significance (Oct 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10167158.	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 9310459.	NM_033004.4(NLRP1):c.2170G>A (p.Glu724Lys) GRCh37: Chr17:5461846 GRCh38: Chr17:5558526	NLRP1	E724K	Autoinflammation with arthritis and dyskeratosis	Uncertain significance (Jun 20, 2019)	criteria provided, single submitter
Select item 80821010.	NM_033004.4(NLRP1):c.790del (p.Cys264fs) GRCh37: Chr17:5463226 GRCh38: Chr17:5559906	NLRP1	C264fs	Autoinflammation with arthritis and dyskeratosis, not provided	Uncertain significance (Jun 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80820911.	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 77079512.	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 73417313.	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 40324114.	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 40324015.	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 39332016.	NM_033004.4(NLRP1):c.3641C>G (p.Pro1214Arg) GRCh37: Chr17:5424986 GRCh38: Chr17:5521666	NLRP1	P1214R, P1218R, P1184R	not provided	Likely pathogenic (Mar 24, 2022)	criteria provided, single submitter
Select item 39331917.	NM_033004.4(NLRP1):c.2176C>T (p.Arg726Trp) GRCh37: Chr17:5461840 GRCh38: Chr17:5558520	NLRP1	R726W	Autoinflammation with arthritis and dyskeratosis, not provided	Uncertain significance (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 416318.	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