"Ambry Genetics"[submitter] AND "LOC126862935"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200677	NM_153447.4(NLRP5):c.725A>G (p.Lys242Arg)	LOC126862935, NLRP5 (K242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263094	NM_153447.4(NLRP5):c.782C>G (p.Pro261Arg)	LOC126862935, NLRP5 (P261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200678	NM_153447.4(NLRP5):c.815C>T (p.Ser272Leu)	LOC126862935, NLRP5 (S272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283074	NM_153447.4(NLRP5):c.898G>A (p.Val300Met)	LOC126862935, NLRP5 (V300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279059	NM_153447.4(NLRP5):c.950T>C (p.Phe317Ser)	LOC126862935, NLRP5 (F317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354665	NM_153447.4(NLRP5):c.977G>A (p.Arg326Gln)	LOC126862935, NLRP5 (R326Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200679	NM_153447.4(NLRP5):c.985G>A (p.Glu329Lys)	LOC126862935, NLRP5 (E329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650551	NM_153447.4(NLRP5):c.992G>T (p.Ser331Ile)	LOC126862935, NLRP5 (S331I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2339368	NM_153447.4(NLRP5):c.992G>C (p.Ser331Thr)	LOC126862935, NLRP5 (S331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200652	NM_153447.4(NLRP5):c.1043C>T (p.Thr348Met)	LOC126862935, NLRP5 (T348M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466412	NM_153447.4(NLRP5):c.1051A>G (p.Met351Val)	LOC126862935, NLRP5 (M351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338154	NM_153447.4(NLRP5):c.1175G>A (p.Arg392His)	LOC126862935, NLRP5 (R392H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387638	NM_153447.4(NLRP5):c.1273C>T (p.Arg425Cys)	LOC126862935, NLRP5 (R425C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300086	NM_153447.4(NLRP5):c.1291G>A (p.Gly431Arg)	LOC126862935, NLRP5 (G431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200653	NM_153447.4(NLRP5):c.1321C>T (p.Leu441Phe)	LOC126862935, NLRP5 (L441F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213127	NM_153447.4(NLRP5):c.1361G>T (p.Gly454Val)	LOC126862935, NLRP5 (G454V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2607785	NM_153447.4(NLRP5):c.1432T>G (p.Cys478Gly)	LOC126862935, NLRP5 (C478G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515384	NM_153447.4(NLRP5):c.1463G>A (p.Gly488Glu)	LOC126862935, NLRP5 (G488E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance