TNFRSF21[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	GLikely pathogenic
Select item 3180277	NM_014452.5(TNFRSF21):c.1855C>T (p.Pro619Ser)	TNFRSF21 (P619S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180276	NM_014452.5(TNFRSF21):c.1635G>C (p.Lys545Asn)	TNFRSF21 (K545N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721586	NM_014452.5(TNFRSF21):c.1626A>G (p.Pro542=)	TNFRSF21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3180275	NM_014452.5(TNFRSF21):c.1622C>T (p.Ser541Phe)	TNFRSF21 (S541F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301392	NM_014452.5(TNFRSF21):c.1593G>T (p.Glu531Asp)	TNFRSF21 (E531D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352684	NM_014452.5(TNFRSF21):c.1580A>G (p.Asn527Ser)	TNFRSF21 (N527S)	Single nucleotide variant (missense variant)	TNFRSF21-related condition	GLikely benign
Select item 2203847	NM_014452.5(TNFRSF21):c.1569C>G (p.Ile523Met)	TNFRSF21 (I523M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512148	NM_014452.5(TNFRSF21):c.1567A>G (p.Ile523Val)	TNFRSF21 (I523V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180274	NM_014452.5(TNFRSF21):c.1495G>C (p.Glu499Gln)	TNFRSF21 (E499Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180273	NM_014452.5(TNFRSF21):c.1479G>C (p.Lys493Asn)	TNFRSF21 (K493N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554529	NM_014452.5(TNFRSF21):c.1414G>A (p.Glu472Lys)	TNFRSF21 (E472K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604802	NM_014452.5(TNFRSF21):c.1406G>A (p.Arg469Gln)	TNFRSF21 (R469Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180272	NM_014452.5(TNFRSF21):c.1373G>A (p.Arg458Gln)	TNFRSF21 (R458Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275951	NM_014452.5(TNFRSF21):c.1355A>G (p.Tyr452Cys)	TNFRSF21 (Y452C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404804	NM_014452.5(TNFRSF21):c.1270G>T (p.Ala424Ser)	TNFRSF21 (A424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520744	NM_014452.5(TNFRSF21):c.1231T>A (p.Cys411Ser)	TNFRSF21 (C411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180271	NM_014452.5(TNFRSF21):c.1210C>T (p.Arg404Trp)	TNFRSF21 (R404W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788536	NM_014452.5(TNFRSF21):c.1159G>A (p.Ala387Thr)	TNFRSF21 (A387T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3180270	NM_014452.5(TNFRSF21):c.1112G>A (p.Arg371Gln)	TNFRSF21 (R371Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510903	NM_014452.5(TNFRSF21):c.1111C>T (p.Arg371Trp)	TNFRSF21 (R371W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407471	NM_014452.5(TNFRSF21):c.1090G>T (p.Val364Leu)	TNFRSF21 (V364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391406	NM_014452.5(TNFRSF21):c.1022A>G (p.His341Arg)	TNFRSF21 (H341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180269	NM_014452.5(TNFRSF21):c.1021C>T (p.His341Tyr)	TNFRSF21 (H341Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327520	NM_014452.5(TNFRSF21):c.962G>C (p.Gly321Ala)	TNFRSF21 (G321A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327522	NM_014452.5(TNFRSF21):c.959G>A (p.Gly320Glu)	TNFRSF21 (G320E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460668	NM_014452.5(TNFRSF21):c.923A>G (p.His308Arg)	TNFRSF21 (H308R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496015	NM_014452.5(TNFRSF21):c.880A>T (p.Asn294Tyr)	TNFRSF21 (N294Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350079	NM_014452.5(TNFRSF21):c.872C>T (p.Thr291Ile)	TNFRSF21 (T291I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374218	NM_014452.5(TNFRSF21):c.725C>G (p.Pro242Arg)	LOC126859685, TNFRSF21 (P242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330097	NM_014452.5(TNFRSF21):c.694C>T (p.Arg232Cys)	LOC126859685, TNFRSF21 (R232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353507	NM_014452.5(TNFRSF21):c.653C>T (p.Ser218Phe)	LOC126859685, TNFRSF21 (S218F)	Single nucleotide variant (missense variant)	TNFRSF21-related condition	GUncertain significance
Select item 3180280	NM_014452.5(TNFRSF21):c.602A>C (p.Lys201Thr)	LOC126859685, TNFRSF21 (K201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317418	NM_014452.5(TNFRSF21):c.517C>T (p.Arg173Trp)	LOC126859685, TNFRSF21 (R173W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327519	NM_014452.5(TNFRSF21):c.469C>T (p.Arg157Trp)	LOC126859685, TNFRSF21 (R157W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314476	NM_014452.5(TNFRSF21):c.454G>T (p.Val152Leu)	LOC126859685, TNFRSF21 (V152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242975	NM_014452.5(TNFRSF21):c.446T>C (p.Val149Ala)	LOC126859685, TNFRSF21 (V149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180279	NM_014452.5(TNFRSF21):c.445G>A (p.Val149Met)	LOC126859685, TNFRSF21 (V149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 873549	NM_014452.5(TNFRSF21):c.436C>G (p.Pro146Ala)	LOC126859685, TNFRSF21 (P146A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3180278	NM_014452.5(TNFRSF21):c.424G>T (p.Ala142Ser)	LOC126859685, TNFRSF21 (A142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466488	NM_014452.5(TNFRSF21):c.349A>G (p.Met117Val)	LOC126859685, TNFRSF21 (M117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233811	NM_014452.5(TNFRSF21):c.307A>G (p.Ile103Val)	LOC126859685, TNFRSF21 (I103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280098	NM_014452.5(TNFRSF21):c.274C>A (p.Pro92Thr)	LOC126859685, TNFRSF21 (P92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518871	NM_014452.5(TNFRSF21):c.256C>T (p.Arg86Cys)	TNFRSF21 (R86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780986	NM_014452.5(TNFRSF21):c.204C>T (p.Asp68=)	TNFRSF21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2225736	NM_014452.5(TNFRSF21):c.152T>C (p.Ile51Thr)	TNFRSF21 (I51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774311	NM_014452.5(TNFRSF21):c.67G>T (p.Ala23Ser)	TNFRSF21 (A23S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2300472	NM_014452.5(TNFRSF21):c.29C>T (p.Ala10Val)	TNFRSF21 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563179	GRCh37/hg19 6p12.3(chr6:46984994-47569904)x3	TNFRSF21, ADGRF1 +1 more	Copy number gain	not provided	GLikely benign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 56