ClinVar for MedGen (Select 815206) - ClinVar

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

Links from MedGen

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068085	NM_033004.4(NLRP1):c.4399_4404del (p.Gly1467_Leu1468del)	NLRP1	Deletion (inframe_indel +2 more)	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	GUncertain significance
Select item 1512598	NM_033004.4(NLRP1):c.2870+1G>A	NLRP1	Single nucleotide variant (splice donor variant)	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome +1 more	GUncertain significance
Select item 1502179	NM_033004.4(NLRP1):c.2043G>T (p.Glu681Asp)	NLRP1 (E681D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442888	NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly)	NLRP1 (V347G)	Single nucleotide variant (missense variant)	Autoinflammation with arthritis and dyskeratosis +4 more	GUncertain significance
Select item 1441287	NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met)	NLRP1 (T1083M +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1366760	NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu)	NLRP1 (S55L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1097101	NM_033004.4(NLRP1):c.3228C>T (p.Asp1076=)	NLRP1	Single nucleotide variant (synonymous variant)	Vitiligo-associated multiple autoimmune disease susceptibility 1 +4 more	GLikely benign
Select item 1016715	NM_033004.4(NLRP1):c.439C>T (p.Arg147Cys)	NLRP1 (R147C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 808209	NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln)	NLRP1 (R308Q)	Single nucleotide variant (missense variant)	NLRP1-related disorder +5 more	GLikely benign
Select item 803299	NM_033004.4(NLRP1):c.4181C>A (p.Thr1394Lys)	NLRP1 (T1350K +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	GUncertain significance
Select item 770795	NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg)	NLRP1 (G106R)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 734173	NM_033004.4(NLRP1):c.272-7C>G	NLRP1	Single nucleotide variant (intron variant)	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome +4 more	GLikely benign
Select item 403241	NM_033004.4(NLRP1):c.114G>C (p.Ser38=)	NLRP1	Single nucleotide variant (synonymous variant)	Respiratory papillomatosis, juvenile recurrent, congenital +5 more	GBenign
Select item 403240	NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val)	NLRP1 (M1184V +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 393318	NM_001033053.2(NLRP1):c.2358-?_2528+?del	NLRP1	Deletion	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	GPathogenic
Select item 375414	NM_033004.4(NLRP1):c.197C>T (p.Ala66Val)	NLRP1 (A66V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 375413	NM_033004.4(NLRP1):c.160G>A (p.Ala54Thr)	NLRP1 (A54T)	Single nucleotide variant (missense variant)	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	GPathogenic
Select item 225421	NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter)	NLRP1 (R308*)	Single nucleotide variant (nonsense)	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	GUncertain significance
Select item 50316	NM_033004.4(NLRP1):c.230T>C (p.Met77Thr)	NLRP1 (M77T)	Single nucleotide variant (missense variant)	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	GPathogenic
Select item 4163	NM_033004.4(NLRP1):c.464T>A (p.Leu155His)	NLRP1 (L155H)	Single nucleotide variant (missense variant)	Respiratory papillomatosis, juvenile recurrent, congenital +4 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 20