Related gene-specific medical variations for Gene (Select 7132) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2991462	NM_001065.4(TNFRSF1A):c.740-6C>A	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2816278	NM_001065.4(TNFRSF1A):c.740-9T>A	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2806260	NM_001065.4(TNFRSF1A):c.740-17T>G	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2799310	NM_001065.4(TNFRSF1A):c.740-17T>C	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2749033	NM_001065.4(TNFRSF1A):c.740-20C>G	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2573126	NM_001065.4(TNFRSF1A):c.796C>A (p.Pro266Thr)	TNFRSF1A (P113T +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2437133	NM_001065.4(TNFRSF1A):c.112G>C (p.Glu38Gln)	TNFRSF1A (E38Q)	Single nucleotide variant (missense variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2428676	NM_001065.4(TNFRSF1A):c.1246G>A (p.Ala416Thr)	TNFRSF1A (A263T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2020728	NM_001065.4(TNFRSF1A):c.740-19T>C	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 1896325	NM_001065.4(TNFRSF1A):c.763A>G (p.Lys255Glu)	LOC130007232, TNFRSF1A (K102E +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 1661080	NM_001065.4(TNFRSF1A):c.740-16C>T	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 1485182	NM_001065.4(TNFRSF1A):c.740T>C (p.Val247Ala)	LOC130007232, TNFRSF1A (V247A +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 883081	NM_001065.4(TNFRSF1A):c.-82C>T	LOC130007233, TNFRSF1A	Single nucleotide variant (5 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 883080	NM_001065.4(TNFRSF1A):c.-75C>T	LOC130007233, TNFRSF1A	Single nucleotide variant (5 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GConflicting classifications of pathogenicity
Select item 881464	NM_001065.4(TNFRSF1A):c.756A>G (p.Thr252=)	LOC130007232, TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 837471	NM_001065.4(TNFRSF1A):c.757C>G (p.Pro253Ala)	LOC130007232, TNFRSF1A (P100A +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 811298	NM_001065.4(TNFRSF1A):c.552-16C>A	TNFRSF1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 811197	NM_001065.4(TNFRSF1A):c.1217C>T (p.Thr406Ile)	TNFRSF1A (T253I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 618437	NM_001065.4(TNFRSF1A):c.914C>G (p.Pro305Arg)	TNFRSF1A (P305R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591141	NM_001065.4(TNFRSF1A):c.1189C>T (p.Arg397Cys)	TNFRSF1A (R397C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 310115	NM_001065.4(TNFRSF1A):c.-162T>C	LOC130007233, TNFRSF1A	Single nucleotide variant (5 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 310114	NM_001065.4(TNFRSF1A):c.-96C>T	LOC130007233, SCNN1A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GConflicting classifications of pathogenicity
Select item 310113	NM_001065.4(TNFRSF1A):c.-74G>A	LOC130007233, SCNN1A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 310110	NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=)	LOC130007232, TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 267318	NM_001065.3(TNFRSF1A):c.463C>T (p.His155Tyr)	TNFRSF1A (H155Y +1 more)	Single nucleotide variant (missense variant +2 more)	Behcet disease	GPathogenic
Select item 257327	NM_001065.4(TNFRSF1A):c.740-9T>C	TNFRSF1A, LOC130007232	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 97994	NM_001065.4(TNFRSF1A):c.40-1057C>G	TNFRSF1A	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 97712	NM_001065.4(TNFRSF1A):c.678C>G (p.Ser226=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97709	NM_001065.4(TNFRSF1A):c.586_612del (p.Leu196_Gly204del)	TNFRSF1A	Deletion (inframe_deletion)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97707	NM_001065.4(TNFRSF1A):c.552-89A>T	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97702	NM_001065.4(TNFRSF1A):c.421T>A (p.Phe141Ile)	TNFRSF1A (F141I +1 more)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97701	NM_001065.4(TNFRSF1A):c.413A>C (p.Glu138Ala)	TNFRSF1A (E138A +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97700	NM_001065.4(TNFRSF1A):c.401A>C (p.His134Pro)	TNFRSF1A (H134P +1 more)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97698	NM_001065.4(TNFRSF1A):c.380G>A (p.Cys127Tyr)	TNFRSF1A (C127Y +1 more)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97697	NM_001065.4(TNFRSF1A):c.374G>A (p.Cys125Tyr)	TNFRSF1A (C125Y +1 more)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97692	NM_001065.4(TNFRSF1A):c.323-32A>G	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97691	NM_001065.4(TNFRSF1A):c.308C>G (p.Ser103Cys)	TNFRSF1A (S103C)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97689	NM_001065.4(TNFRSF1A):c.304T>C (p.Cys102Arg)	TNFRSF1A (C102R)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97688	NM_001065.4(TNFRSF1A):c.296G>A (p.Cys99Tyr)	TNFRSF1A (C99Y)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97687	NM_001065.4(TNFRSF1A):c.295T>G (p.Cys99Gly)	TNFRSF1A (C99G)	Single nucleotide variant (5 prime UTR variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97685	NM_001065.4(TNFRSF1A):c.293_295del (p.His98_Cys99delinsArg)	TNFRSF1A	Deletion (inframe_indel +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97683	NM_001065.4(TNFRSF1A):c.284A>T (p.His95Leu)	TNFRSF1A (H95L)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97681	NM_001065.4(TNFRSF1A):c.281A>T (p.Asn94Ile)	TNFRSF1A (N94I)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97680	NM_001065.4(TNFRSF1A):c.269C>A (p.Thr90Asn)	TNFRSF1A (T90N)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97679	NM_001065.4(TNFRSF1A):c.267C>A (p.Phe89Leu)	TNFRSF1A (F89L)	Single nucleotide variant (5 prime UTR variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97678	NM_001065.4(TNFRSF1A):c.266T>C (p.Phe89Ser)	TNFRSF1A (F89S)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97677	NM_001065.4(TNFRSF1A):c.265T>G (p.Phe89Val)	TNFRSF1A (F89V)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97675	NM_001065.4(TNFRSF1A):c.262T>C (p.Ser88Pro)	TNFRSF1A (S88P)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97674	NM_001065.4(TNFRSF1A):c.251G>C (p.Cys84Ser)	TNFRSF1A (C84S)	Single nucleotide variant (5 prime UTR variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97669	NM_001065.4(TNFRSF1A):c.242G>A (p.Cys81Tyr)	TNFRSF1A (C81Y)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97667	NM_001065.4(TNFRSF1A):c.236C>A (p.Thr79Lys)	TNFRSF1A (T79K)	Single nucleotide variant (5 prime UTR variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97665	NM_001065.4(TNFRSF1A):c.215G>C (p.Cys72Ser)	TNFRSF1A (C72S)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97662	NM_001065.4(TNFRSF1A):c.211_213del (p.Asp71del)	TNFRSF1A (D71del)	Deletion (inframe_deletion +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97661	NM_001065.4(TNFRSF1A):c.204G>C (p.Leu68Phe)	TNFRSF1A (L68F)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97660	NM_001065.4(TNFRSF1A):c.200A>G (p.Tyr67Cys)	TNFRSF1A (Y67C)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97659	NM_001065.4(TNFRSF1A):c.200A>C (p.Tyr67Ser)	TNFRSF1A (Y67S)	Single nucleotide variant (5 prime UTR variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97657	NM_001065.4(TNFRSF1A):c.194G>A (p.Gly65Glu)	TNFRSF1A (G65E)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97653	NM_001065.4(TNFRSF1A):c.176G>T (p.Cys59Phe)	TNFRSF1A (C59F)	Single nucleotide variant (missense variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97650	NM_001065.4(TNFRSF1A):c.173G>A (p.Cys58Tyr)	TNFRSF1A (C58Y)	Single nucleotide variant (missense variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97648	NM_001065.4(TNFRSF1A):c.153C>G (p.His51Gln)	TNFRSF1A (H51Q)	Single nucleotide variant (missense variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97647	NM_001065.4(TNFRSF1A):c.152A>G (p.His51Arg)	TNFRSF1A (H51R)	Single nucleotide variant (missense variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97645	NM_001065.4(TNFRSF1A):c.145T>G (p.Tyr49Asp)	TNFRSF1A (Y49D)	Single nucleotide variant (missense variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97644	NM_001065.4(TNFRSF1A):c.145T>C (p.Tyr49His)	TNFRSF1A (Y49H)	Single nucleotide variant (missense variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97642	NM_001065.4(TNFRSF1A):c.1080C>G (p.Tyr360Ter)	TNFRSF1A (Y360* +2 more)	Single nucleotide variant (nonsense +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97424	NM_001065.4(TNFRSF1A):c.40-981C>T	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97423	NM_001065.4(TNFRSF1A):c.39+97G>A	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 97421	NM_001065.2(TNFRSF1A):c.-559G>A	TNFRSF1A	Single nucleotide variant	TNF receptor-associated periodic fever syndrome (TRAPS)	Gnot provided
Select item 12346	C55A	TNFRSF1A	Variation	TNF receptor-associated periodic fever syndrome (TRAPS)	GPathogenic
Select item 12344	TNFRSF1A, 3-BP DEL, NT211	TNFRSF1A	Deletion	TNF receptor-associated periodic fever syndrome (TRAPS)	GPathogenic

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Items: 69