"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1136389	NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg)	NLRC4 (K321R +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 542046	NM_001199138.2(NLRC4):c.2945C>G (p.Ala982Gly)	NLRC4 (A982G +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GLikely benign
Select item 1694377	NM_001199138.2(NLRC4):c.2916T>C (p.Phe972=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GLikely benign
Select item 1127367	NM_001199138.2(NLRC4):c.2835G>A (p.Ala945=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694376	NM_001199138.2(NLRC4):c.2828A>T (p.Asn943Ile)	NLRC4 (N278I +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 1506842	NM_001199138.2(NLRC4):c.2802C>G (p.Asn934Lys)	NLRC4 (N934K +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +2 more	GUncertain significance
Select item 475254	NM_001199138.2(NLRC4):c.2785G>T (p.Ala929Ser)	NLRC4 (A929S +1 more)	Single nucleotide variant (missense variant)	NLRC4-related disorder +5 more	GBenign
Select item 403238	NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 542047	NM_001199138.2(NLRC4):c.2727C>T (p.Leu909=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 1694375	NM_001199138.2(NLRC4):c.2716G>A (p.Val906Ile)	NLRC4 (V241I +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GUncertain significance
Select item 955158	NM_001199138.2(NLRC4):c.2687T>A (p.Leu896Gln)	NLRC4 (L231Q +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1694374	NM_001199138.2(NLRC4):c.2668T>A (p.Cys890Ser)	NLRC4 (C225S +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 542048	NM_001199138.2(NLRC4):c.2668T>C (p.Cys890Arg)	NLRC4 (C890R +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GBenign
Select item 1694373	NM_001199138.2(NLRC4):c.2659C>A (p.Pro887Thr)	NLRC4 (P222T +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 643212	NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr)	NLRC4 (A218T +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 748242	NM_001199138.2(NLRC4):c.2631G>A (p.Val877=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 742650	NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met)	NLRC4 (V212M +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 790903	NM_001199138.2(NLRC4):c.2628C>A (p.Asn876Lys)	NLRC4 (N211K +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GLikely benign
Select item 1694372	NM_001199138.2(NLRC4):c.2467G>A (p.Glu823Lys)	NLRC4 (E158K +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 475252	NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)	NLRC4 (G786V +1 more)	Single nucleotide variant (missense variant)	NLRC4-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1694371	NM_001199138.2(NLRC4):c.2255C>A (p.Pro752Gln)	NLRC4 (P752Q)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1694369	NM_001199138.2(NLRC4):c.2196C>A (p.Ile732=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1694368	NM_001199138.2(NLRC4):c.2156T>C (p.Val719Ala)	NLRC4 (V719A)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 542044	NM_001199138.2(NLRC4):c.1870T>A (p.Trp624Arg)	NLRC4 (W624R)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GBenign
Select item 1079297	NM_001199138.2(NLRC4):c.1776C>T (p.Pro592=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GLikely benign
Select item 1694366	NM_001199138.2(NLRC4):c.1724T>C (p.Phe575Ser)	NLRC4 (F575S)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 542051	NM_001199138.2(NLRC4):c.1683A>G (p.Leu561=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 1694365	NM_001199138.2(NLRC4):c.1630G>T (p.Glu544Ter)	NLRC4 (E544*)	Single nucleotide variant (nonsense +1 more)	Autoinflammatory syndrome	GLikely pathogenic
Select item 1039274	NM_001199138.2(NLRC4):c.1624G>A (p.Glu542Lys)	NLRC4 (E542K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1409645	NM_001199138.2(NLRC4):c.1616del (p.Asn539fs)	NLRC4 (N539fs)	Deletion (frameshift variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance
Select item 1694364	NM_001199138.2(NLRC4):c.1569C>A (p.Ile523=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 794806	NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1694363	NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser)	NLRC4 (C517S)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 475251	NM_001199138.2(NLRC4):c.1542A>G (p.Gln514=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GBenign
Select item 1107308	NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 1694362	NM_001199138.2(NLRC4):c.1409_1410dup (p.Asn471fs)	NLRC4 (N471fs)	Duplication (frameshift variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 732766	NM_001199138.2(NLRC4):c.1380G>A (p.Thr460=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 1694361	NM_001199138.2(NLRC4):c.1379C>T (p.Thr460Met)	NLRC4 (T460M)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1694360	NM_001199138.2(NLRC4):c.1302G>T (p.Arg434Ser)	NLRC4 (R434S)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 542054	NM_001199138.2(NLRC4):c.1248G>A (p.Val416=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1694359	NM_001199138.2(NLRC4):c.1225G>A (p.Glu409Lys)	NLRC4 (E409K)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1124109	NM_001199138.2(NLRC4):c.1164G>C (p.Arg388=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 721224	NM_001199138.2(NLRC4):c.1083G>A (p.Thr361=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	NLRC4-related disorder +3 more	GBenign/Likely benign
Select item 757144	NM_001199138.2(NLRC4):c.1080A>G (p.Thr360=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694356	NM_001199138.2(NLRC4):c.1015C>G (p.Leu339Val)	NLRC4 (L339V)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GLikely pathogenic
Select item 795216	NM_001199138.2(NLRC4):c.945G>A (p.Lys315=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694386	NM_001199138.2(NLRC4):c.881C>T (p.Thr294Ile)	NLRC4 (T294I)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1354389	NM_001199138.2(NLRC4):c.808C>T (p.Arg270Cys)	NLRC4 (R270C)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1694385	NM_001199138.2(NLRC4):c.763C>T (p.Pro255Ser)	NLRC4 (P255S)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1414057	NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr)	NLRC4 (M235T)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 858371	NM_001199138.2(NLRC4):c.655C>T (p.Gln219Ter)	NLRC4 (Q219*)	Single nucleotide variant (nonsense +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance
Select item 1694384	NM_001199138.2(NLRC4):c.648C>A (p.Leu216=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 791711	NM_001199138.2(NLRC4):c.632G>A (p.Gly211Glu)	NLRC4 (G211E)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 843582	NM_001199138.2(NLRC4):c.617G>C (p.Ser206Thr)	NLRC4 (S206T)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance
Select item 1694383	NM_001199138.2(NLRC4):c.597C>T (p.Phe199=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1694382	NM_001199138.2(NLRC4):c.565G>A (p.Gly189Arg)	NLRC4 (G189R)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1694381	NM_001199138.2(NLRC4):c.551T>C (p.Met184Thr)	NLRC4 (M184T)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 799130	NM_001199138.2(NLRC4):c.549C>T (p.Ala183=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1142297	NM_001199138.2(NLRC4):c.480T>C (p.Ala160=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +3 more	GLikely benign
Select item 542049	NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)	NLRC4 (A160T)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1694379	NM_001199138.2(NLRC4):c.459C>G (p.Thr153=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome	GLikely benign
Select item 1694378	NM_001199138.2(NLRC4):c.333C>G (p.Thr111=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 663197	NM_001199138.2(NLRC4):c.281C>T (p.Ser94Leu)	NLRC4 (S94L)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GUncertain significance
Select item 1116165	NM_001199138.2(NLRC4):c.249C>T (p.Asp83=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1694367	NM_001199138.2(NLRC4):c.195C>A (p.Ser65=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 951848	NM_001199138.2(NLRC4):c.129C>T (p.Cys43=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1694358	NM_001199138.2(NLRC4):c.114A>G (p.Val38=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1109996	NM_001199138.2(NLRC4):c.105C>T (p.Arg35=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694370	NM_001199138.2(NLRC4):c.21T>G (p.Asn7Lys)	NLRC4 (N7K)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694357	NM_001199138.2(NLRC4):c.-10A>T	NLRC4	Single nucleotide variant (5 prime UTR variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694380	NM_001199138.2(NLRC4):c.-48A>G	NLRC4	Single nucleotide variant (5 prime UTR variant)	Autoinflammatory syndrome	GLikely benign

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Items: 71