Related gene-specific medical variations for Gene (Select 171389) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300096	NM_001276700.2(NLRP6):c.1660G>A (p.Glu554Lys)	LOC130005044, NLRP6 (E554K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200689	NM_001276700.2(NLRP6):c.610G>A (p.Ala204Thr)	LOC130005043, NLRP6 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200683	NM_001276700.2(NLRP6):c.1631C>T (p.Thr544Met)	LOC130005044, NLRP6 (T544M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606006	NM_001276700.2(NLRP6):c.1702T>G (p.Ser568Ala)	LOC130005044, NLRP6 (S568A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308121	NM_001276700.2(NLRP6):c.1681C>A (p.Arg561Ser)	LOC130005044, NLRP6 (R561S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 548517	NM_001276700.2(NLRP6):c.669G>C (p.Lys223Asn)	NLRP6, LOC130005043 (K223N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 103259	NM_001276700.2(NLRP6):c.966G>C (p.Leu322=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103258	NM_001276700.2(NLRP6):c.851T>C (p.Leu284Pro)	NLRP6 (L284P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 103257	NM_001276700.2(NLRP6):c.795G>A (p.Pro265=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103256	NM_001276700.2(NLRP6):c.786G>C (p.Ala262=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103255	NM_001276700.2(NLRP6):c.582G>A (p.Arg194=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103254	NM_001276700.2(NLRP6):c.349+103G>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103253	NM_001276700.2(NLRP6):c.311-42G>C	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103252	NM_001276700.2(NLRP6):c.311-26G>T	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103251	NM_001276700.2(NLRP6):c.311-15C>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103250	NM_001276700.2(NLRP6):c.30-85G>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103249	NM_001276700.2(NLRP6):c.30-335G>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103248	NM_001276700.2(NLRP6):c.30-271C>G	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103247	NM_001276700.2(NLRP6):c.30-20C>G	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103246	NM_001276700.2(NLRP6):c.29+250G>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103245	NM_001276700.2(NLRP6):c.29+222A>G	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103244	NM_001276700.2(NLRP6):c.2659C>G (p.Leu887Val)	NLRP6 (L888V +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 103243	NM_001276700.2(NLRP6):c.261G>A (p.Arg87=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103242	NM_001276700.2(NLRP6):c.2538-87G>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103241	NM_001276700.2(NLRP6):c.2538-36C>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103240	NM_001276700.2(NLRP6):c.2370-37G>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103239	NM_001276700.2(NLRP6):c.2198+35C>T	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103238	NM_001276700.2(NLRP6):c.2105+362T>C	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103237	NM_001276700.2(NLRP6):c.2105+180A>C	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103236	NM_001276700.2(NLRP6):c.2105+139C>T	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103235	NM_001276700.2(NLRP6):c.2078G>A (p.Arg693Gln)	NLRP6 (R693Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 103234	NM_001276700.2(NLRP6):c.2051AGA[4] (p.Lys688del)	NLRP6 (K688del)	Microsatellite (inframe_deletion)	not provided	Gnot provided
Select item 103233	NM_001276700.2(NLRP6):c.1940A>G (p.Gln647Arg)	NLRP6 (Q647R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 103232	NM_001276700.2(NLRP6):c.1878C>T (p.Tyr626=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103231	NM_001276700.2(NLRP6):c.184G>A (p.Val62Met)	NLRP6 (V62M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 103230	NM_001276700.2(NLRP6):c.1665G>A (p.Arg555=)	LOC130005044, NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103229	NM_001276700.2(NLRP6):c.1271C>A (p.Thr424Asn)	NLRP6 (T424N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 102950	NM_138329.2(NLRP6):c.-166G>A	NLRP6	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided

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Links from Gene

Items: 38