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

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1055756	NM_001065.4(TNFRSF1A):c.1349C>G (p.Ala450Gly)	TNFRSF1A (A297G +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 450261	NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val)	TNFRSF1A (G443V +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1694194	NM_001065.4(TNFRSF1A):c.1327G>T (p.Gly443Cys)	TNFRSF1A (G290C +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1363820	NM_001065.4(TNFRSF1A):c.1307A>G (p.Asp436Gly)	TNFRSF1A (D283G +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GUncertain significance
Select item 1694193	NM_001065.4(TNFRSF1A):c.1238G>A (p.Arg413Gln)	TNFRSF1A (R260Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1400533	NM_001065.4(TNFRSF1A):c.1226G>T (p.Arg409Leu)	TNFRSF1A (R256L +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 310106	NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +2 more	GConflicting classifications of pathogenicity
Select item 1694192	NM_001065.4(TNFRSF1A):c.1177G>T (p.Gly393Trp)	TNFRSF1A (G240W +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 310107	NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 97422	NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 1093345	NM_001065.4(TNFRSF1A):c.1058-4G>C	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GConflicting classifications of pathogenicity
Select item 234742	NM_001065.4(TNFRSF1A):c.1058-6C>G	TNFRSF1A	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 843562	NM_001065.4(TNFRSF1A):c.1008C>A (p.Asn336Lys)	TNFRSF1A (N183K +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 378736	NM_001065.4(TNFRSF1A):c.988G>A (p.Ala330Thr)	TNFRSF1A (A330T +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +2 more	GLikely benign
Select item 1694200	NM_001065.4(TNFRSF1A):c.940G>A (p.Val314Met)	TNFRSF1A (V161M +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 378735	NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys)	TNFRSF1A (R312K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 546693	NM_001065.4(TNFRSF1A):c.887G>C (p.Ser296Thr)	TNFRSF1A (S296T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1167637	NM_001065.4(TNFRSF1A):c.789T>C (p.Thr263=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +1 more	GBenign/Likely benign
Select item 1627306	NM_001065.4(TNFRSF1A):c.784A>G (p.Thr262Ala)	TNFRSF1A (T109A +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GConflicting classifications of pathogenicity
Select item 137681	NM_001065.4(TNFRSF1A):c.769-3C>T	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS) +2 more	GBenign/Likely benign
Select item 712944	NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GBenign/Likely benign
Select item 1694199	NM_001065.4(TNFRSF1A):c.706T>C (p.Tyr236His)	TNFRSF1A (Y128H +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 744904	NM_001065.4(TNFRSF1A):c.672T>C (p.Leu224=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GLikely benign
Select item 1246148	NM_001065.4(TNFRSF1A):c.626-6C>T	TNFRSF1A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 37038	NM_001065.4(TNFRSF1A):c.625+10A>G	TNFRSF1A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1694198	NM_001065.4(TNFRSF1A):c.603T>C (p.Asn201=)	TNFRSF1A	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 310112	NM_001065.4(TNFRSF1A):c.472+7G>T	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GConflicting classifications of pathogenicity
Select item 97703	NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser)	TNFRSF1A (N145S +1 more)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +4 more	GConflicting classifications of pathogenicity
Select item 1162030	NM_001065.4(TNFRSF1A):c.384G>A (p.Arg128=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 97696	NM_001065.4(TNFRSF1A):c.370G>A (p.Val124Met)	TNFRSF1A (V124M +1 more)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +2 more	GUncertain significance
Select item 97695	NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +3 more	GConflicting classifications of pathogenicity
Select item 217017	NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)	TNFRSF1A (R121Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 137682	NM_001065.4(TNFRSF1A):c.339G>A (p.Glu113=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +2 more	GConflicting classifications of pathogenicity
Select item 234422	NM_001065.4(TNFRSF1A):c.334G>A (p.Val112Met)	TNFRSF1A (V112M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 1694197	NM_001065.4(TNFRSF1A):c.265T>A (p.Phe89Ile)	TNFRSF1A (F89I)	Single nucleotide variant (missense variant +2 more)	Autoinflammatory syndrome	GUncertain significance
Select item 97671	NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +2 more	GConflicting classifications of pathogenicity
Select item 245671	NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu)	TNFRSF1A (P75L)	Single nucleotide variant (missense variant +2 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694196	NM_001065.4(TNFRSF1A):c.215G>T (p.Cys72Phe)	TNFRSF1A (C72F)	Single nucleotide variant (missense variant +2 more)	Autoinflammatory syndrome	GLikely pathogenic
Select item 97663	NM_001065.4(TNFRSF1A):c.214T>C (p.Cys72Arg)	TNFRSF1A (C72R)	Single nucleotide variant (missense variant +2 more)	Autoinflammatory syndrome	GLikely pathogenic
Select item 1694195	NM_001065.4(TNFRSF1A):c.208_210del (p.Asn70del)	TNFRSF1A (N70del)	Deletion (inframe_deletion +2 more)	Autoinflammatory syndrome	GUncertain significance
Select item 97643	NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)	TNFRSF1A (D41E)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1618501	NM_001065.4(TNFRSF1A):c.51G>A (p.Glu17=)	TNFRSF1A	Single nucleotide variant (synonymous variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GConflicting classifications of pathogenicity
Select item 1543771	NM_001065.4(TNFRSF1A):c.12C>T (p.Ser4=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 310114	NM_001065.4(TNFRSF1A):c.-96C>T	LOC130007233, SCNN1A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1192941	NM_001065.3(TNFRSF1A):c.-284delC	TNFRSF1A	Deletion	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity

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Items: 45