Related gene-specific medical variations for Gene (Select 126862475) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019835	NM_033004.4(NLRP1):c.9C>T (p.Gly3=)	LOC126862475, NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004646	NM_033004.4(NLRP1):c.52A>T (p.Lys18Ter)	LOC126862475, NLRP1 (K18*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2970268	NM_033004.4(NLRP1):c.55GAG[1] (p.Glu20del)	LOC126862475, NLRP1 (E20del)	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2962576	NM_033004.4(NLRP1):c.96G>A (p.Ala32=)	LOC126862475, NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836476	NM_033004.4(NLRP1):c.63_77del (p.Lys22_Leu26del)	LOC126862475, NLRP1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2802187	NM_033004.4(NLRP1):c.36C>T (p.Tyr12=)	LOC126862475, NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793661	NM_033004.4(NLRP1):c.22C>T (p.Arg8Cys)	LOC126862475, NLRP1 (R8C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741117	NM_033004.4(NLRP1):c.15_16insCCGGAGCC (p.Trp6fs)	LOC126862475, NLRP1 (W6fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2729131	NM_033004.4(NLRP1):c.85G>A (p.Ala29Thr)	LOC126862475, NLRP1 (A29T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701894	NM_033004.4(NLRP1):c.28G>T (p.Ala10Ser)	LOC126862475, NLRP1 (A10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2324946	NM_033004.4(NLRP1):c.86C>T (p.Ala29Val)	LOC126862475, NLRP1 (A29V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2210081	NM_033004.4(NLRP1):c.10G>A (p.Gly4Arg)	LOC126862475, NLRP1 (G4R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2195527	NM_033004.4(NLRP1):c.79C>T (p.Leu27=)	LOC126862475, NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177342	NM_033004.4(NLRP1):c.82C>T (p.Leu28Phe)	LOC126862475, NLRP1 (L28F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172741	NM_033004.4(NLRP1):c.23G>A (p.Arg8His)	LOC126862475, NLRP1 (R8H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044088	NM_033004.4(NLRP1):c.56A>G (p.Glu19Gly)	LOC126862475, NLRP1 (E19G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962575	NM_033004.4(NLRP1):c.57G>A (p.Glu19=)	LOC126862475, NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940982	NM_033004.4(NLRP1):c.22C>A (p.Arg8Ser)	LOC126862475, NLRP1 (R8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1630796	NM_033004.4(NLRP1):c.103A>G (p.Arg35Gly)	LOC126862475, NLRP1 (R35G)	Single nucleotide variant (missense variant)	NLRP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1628343	NM_033004.4(NLRP1):c.96G>T (p.Ala32=)	LOC126862475, NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1498726	NM_033004.4(NLRP1):c.5C>T (p.Ala2Val)	LOC126862475, NLRP1 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468128	NM_033004.4(NLRP1):c.16T>A (p.Trp6Arg)	LOC126862475, NLRP1 (W6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443291	NM_033004.4(NLRP1):c.88A>G (p.Asn30Asp)	LOC126862475, NLRP1 (N30D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434424	NM_033004.4(NLRP1):c.89A>G (p.Asn30Ser)	LOC126862475, NLRP1 (N30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345369	NM_033004.4(NLRP1):c.95C>T (p.Ala32Val)	NLRP1, LOC126862475 (A32V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 103014	NM_033004.4(NLRP1):c.-159C>T	LOC126862475, NLRP1	Single nucleotide variant (5 prime UTR variant)	not provided	Gnot provided

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Links from Gene

Items: 26