ClinVar for MedGen (Select 335788) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1481575	NM_005546.4(ITK):c.1562C>T (p.Pro521Leu)	ITK (P521L)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1442888	NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly)	NLRP1 (V347G)	Single nucleotide variant (missense variant)	not provided +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)	Vitiligo-associated multiple autoimmune disease susceptibility 1 +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)	Respiratory papillomatosis, juvenile recurrent, congenital +4 more	GUncertain significance
Select item 808209	NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln)	NLRP1 (R308Q)	Single nucleotide variant (missense variant)	Vitiligo-associated multiple autoimmune disease susceptibility 1 +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 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