ClinVar for MedGen (Select 1380109) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3582339	NM_033004.4(NLRP1):c.2960G>A (p.Arg987Gln)	NLRP1 (R987Q)	Single nucleotide variant (missense variant +1 more)	Autoinflammation with arthritis and dyskeratosis +3 more	GUncertain significance
Select item 2444316	NM_033004.4(NLRP1):c.3568G>A (p.Glu1190Lys)	NLRP1 (E1160K +2 more)	Single nucleotide variant (missense variant)	Autoinflammation with arthritis and dyskeratosis	GUncertain significance
Select item 1442888	NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly)	NLRP1 (V347G)	Single nucleotide variant (missense variant)	Vitiligo-associated multiple autoimmune disease susceptibility 1 +5 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 1417018	NM_033004.4(NLRP1):c.3788T>C (p.Ile1263Thr)	NLRP1 (I1233T +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammation with arthritis and dyskeratosis +1 more	GUncertain significance
Select item 1366760	NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu)	NLRP1 (S55L)	Single nucleotide variant (missense variant)	Vitiligo-associated multiple autoimmune disease susceptibility 1 +4 more	GUncertain significance
Select item 1318419	NM_033004.4(NLRP1):c.2290G>A (p.Val764Met)	NLRP1 (V764M)	Single nucleotide variant (missense variant)	NLRP1-related disorder +2 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 1031529	NM_033004.4(NLRP1):c.1580G>A (p.Cys527Tyr)	NLRP1 (C527Y)	Single nucleotide variant (missense variant)	Autoinflammation with arthritis and dyskeratosis +1 more	GUncertain significance
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 931045	NM_033004.4(NLRP1):c.2170G>A (p.Glu724Lys)	NLRP1 (E724K)	Single nucleotide variant (missense variant)	Autoinflammation with arthritis and dyskeratosis	GUncertain significance
Select item 808210	NM_033004.4(NLRP1):c.790del (p.Cys264fs)	NLRP1 (C264fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 808209	NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln)	NLRP1 (R308Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
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)	Respiratory papillomatosis, juvenile recurrent, congenital +4 more	GLikely benign
Select item 403241	NM_033004.4(NLRP1):c.114G>C (p.Ser38=)	NLRP1	Single nucleotide variant (synonymous variant)	Autoinflammation with arthritis and dyskeratosis +4 more	GBenign
Select item 403240	NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val)	NLRP1 (M1184V +2 more)	Single nucleotide variant (missense variant)	Autoinflammation with arthritis and dyskeratosis +4 more	GBenign
Select item 393320	NM_033004.4(NLRP1):c.3641C>G (p.Pro1214Arg)	NLRP1 (P1214R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 393319	NM_033004.4(NLRP1):c.2176C>T (p.Arg726Trp)	NLRP1 (R726W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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

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Items: 20