TNFRSF9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC129929074, LOC129929075 +520 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 154639	GRCh38/hg38 1p36.31-36.23(chr1:6763143-8367573)x1	CAMTA1, CAMTA1-AS1 +63 more	Copy number loss	See cases	GUncertain significance
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 1673242	NM_001561.6(TNFRSF9):c.763C>T (p.Leu255=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916555	NM_001561.6(TNFRSF9):c.740AAG[3] (p.Glu250del)	TNFRSF9 (E250del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1901607	NM_001561.6(TNFRSF9):c.748_749insGAG (p.Glu249_Glu250insGly)	TNFRSF9	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1426318	NM_001561.6(TNFRSF9):c.749A>G (p.Glu250Gly)	TNFRSF9 (E250G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162555	NM_001561.6(TNFRSF9):c.740A>G (p.Glu247Gly)	TNFRSF9 (E247G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1913419	NM_001561.6(TNFRSF9):c.731G>A (p.Arg244Gln)	TNFRSF9 (R244Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447990	NM_001561.6(TNFRSF9):c.730C>T (p.Arg244Ter)	TNFRSF9 (R244*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 999175	NM_001561.6(TNFRSF9):c.722G>A (p.Cys241Tyr)	TNFRSF9 (C241Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1467611	NM_001561.6(TNFRSF9):c.707A>G (p.Gln236Arg)	TNFRSF9 (Q236R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416719	NM_001561.6(TNFRSF9):c.695T>C (p.Val232Ala)	TNFRSF9 (V232A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532790	NM_001561.6(TNFRSF9):c.693A>G (p.Pro231=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781003	NM_001561.6(TNFRSF9):c.684T>C (p.Phe228=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1165231	NM_001561.6(TNFRSF9):c.680-12dup	TNFRSF9	Duplication (intron variant)	TNFRSF9-related disorder +1 more	GBenign/Likely benign
Select item 1566533	NM_001561.6(TNFRSF9):c.680-3del	TNFRSF9	Deletion (intron variant)	not provided	GBenign
Select item 1560461	NM_001561.6(TNFRSF9):c.680-7T>G	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966470	NM_001561.6(TNFRSF9):c.680-8T>G	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654523	NM_001561.6(TNFRSF9):c.680-12T>A	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610364	NM_001561.6(TNFRSF9):c.680-13A>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688421	NM_001561.6(TNFRSF9):c.680-1051A>G	TNFRSF9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1950320	NM_001561.6(TNFRSF9):c.679+13T>C	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1429363	NM_001561.6(TNFRSF9):c.679C>T (p.Pro227Ser)	TNFRSF9 (P227S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695991	NM_001561.6(TNFRSF9):c.668T>C (p.Ile223Thr)	TNFRSF9 (I223T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014646	NM_001561.6(TNFRSF9):c.663G>A (p.Leu221=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1043279	NM_001561.6(TNFRSF9):c.649A>G (p.Arg217Gly)	TNFRSF9 (R217G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477619	NM_001561.6(TNFRSF9):c.643C>T (p.Arg215Trp)	TNFRSF9 (R215W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2329754	NM_001561.6(TNFRSF9):c.632C>T (p.Ser211Phe)	TNFRSF9 (S211F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1482486	NM_001561.6(TNFRSF9):c.626G>A (p.Arg209His)	TNFRSF9 (R209H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931012	NM_001561.6(TNFRSF9):c.621G>T (p.Thr207=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933977	NM_001561.6(TNFRSF9):c.620C>T (p.Thr207Met)	TNFRSF9 (T207M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784344	NM_001561.6(TNFRSF9):c.615C>T (p.Phe205=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3007632	NM_001561.6(TNFRSF9):c.609G>A (p.Leu203=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347557	NM_001561.6(TNFRSF9):c.605T>C (p.Leu202Pro)	TNFRSF9 (L202P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170538	NM_001561.6(TNFRSF9):c.594G>A (p.Ala198=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543050	NM_001561.6(TNFRSF9):c.588G>A (p.Ser196=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007200	NM_001561.6(TNFRSF9):c.579G>T (p.Ala193=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591499	NM_001561.6(TNFRSF9):c.579G>A (p.Ala193=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606637	NM_001561.6(TNFRSF9):c.576T>A (p.Leu192=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1430778	NM_001561.6(TNFRSF9):c.573del (p.Ala193fs)	TNFRSF9 (A193fs)	Deletion (frameshift variant)	TNFRSF9-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1388641	NM_001561.6(TNFRSF9):c.567CTT[1] (p.Phe191del)	TNFRSF9 (F191del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1472157	NM_001561.6(TNFRSF9):c.571T>C (p.Phe191Leu)	TNFRSF9 (F191L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088487	NM_001561.6(TNFRSF9):c.561C>A (p.Ile187=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750572	NM_001561.6(TNFRSF9):c.555G>T (p.Pro185=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613583	NM_001561.6(TNFRSF9):c.555G>A (p.Pro185=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465455	NM_001561.6(TNFRSF9):c.545-1G>A	TNFRSF9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1652430	NM_001561.6(TNFRSF9):c.545-4G>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809897	NM_001561.6(TNFRSF9):c.545-11G>A	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914316	NM_001561.6(TNFRSF9):c.545-13C>G	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2042061	NM_001561.6(TNFRSF9):c.544+16C>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966361	NM_001561.6(TNFRSF9):c.544+8_544+12dup	TNFRSF9	Duplication (intron variant)	not provided	GLikely benign
Select item 2837189	NM_001561.6(TNFRSF9):c.544+8G>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670343	NM_001561.6(TNFRSF9):c.544+7G>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2181663	NM_001561.6(TNFRSF9):c.534G>A (p.Ala178=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775499	NM_001561.6(TNFRSF9):c.527C>A (p.Ala176Asp)	TNFRSF9 (A176D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2808660	NM_001561.6(TNFRSF9):c.522G>A (p.Pro174=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966638	NM_001561.6(TNFRSF9):c.521C>T (p.Pro174Leu)	TNFRSF9 (P174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858619	NM_001561.6(TNFRSF9):c.510C>T (p.Ser170=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386781	NM_001561.6(TNFRSF9):c.506C>T (p.Ala169Val)	TNFRSF9 (A169V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1552882	NM_001561.6(TNFRSF9):c.501G>A (p.Pro167=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1402230	NM_001561.6(TNFRSF9):c.500C>T (p.Pro167Leu)	TNFRSF9 (P167L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3180313	NM_001561.6(TNFRSF9):c.494T>C (p.Leu165Pro)	TNFRSF9 (L165P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1927501	NM_001561.6(TNFRSF9):c.489C>T (p.Ala163=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1363542	NM_001561.6(TNFRSF9):c.466G>A (p.Val156Met)	TNFRSF9 (V156M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1080088	NM_001561.6(TNFRSF9):c.465C>T (p.Asp155=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977938	NM_001561.6(TNFRSF9):c.454A>G (p.Lys152Glu)	TNFRSF9 (K152E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980317	NM_001561.6(TNFRSF9):c.453G>A (p.Thr151=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357056	NM_001561.6(TNFRSF9):c.452C>T (p.Thr151Met)	TNFRSF9 (T151M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911816	NM_001561.6(TNFRSF9):c.450G>A (p.Gly150=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337945	NM_001561.6(TNFRSF9):c.447T>C (p.Asn149=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1474468	NM_001561.6(TNFRSF9):c.433T>G (p.Ser145Ala)	TNFRSF9 (S145A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784998	NM_001561.6(TNFRSF9):c.428G>T (p.Gly143Val)	TNFRSF9 (G143V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190351	NM_001561.6(TNFRSF9):c.428G>C (p.Gly143Ala)	TNFRSF9 (G143A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1514237	NM_001561.6(TNFRSF9):c.425A>T (p.Asp142Val)	TNFRSF9 (D142V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955461	NM_001561.6(TNFRSF9):c.421T>C (p.Leu141=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785781	NM_001561.6(TNFRSF9):c.414-4T>C	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688461	NM_001561.6(TNFRSF9):c.413+1248GTTT[7]	TNFRSF9	Microsatellite (intron variant)	not specified	GBenign
Select item 2688454	NM_001561.6(TNFRSF9):c.413+1116T>C	TNFRSF9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2959771	NM_001561.6(TNFRSF9):c.413+20G>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578999	NM_001561.6(TNFRSF9):c.413+8T>C	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1430745	NM_001561.6(TNFRSF9):c.413+4C>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3012278	NM_001561.6(TNFRSF9):c.413+2T>C	TNFRSF9	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2815447	NM_001561.6(TNFRSF9):c.405C>T (p.Pro135=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446376	NM_001561.6(TNFRSF9):c.401G>A (p.Arg134Gln)	TNFRSF9 (R134Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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