TNFRSF17[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 545184	Single allele	BCAR4, CPPED1 +85 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 992503	NM_001192.3(TNFRSF17):c.16G>C (p.Gly6Arg)	NPIPB2, TNFRSF17 +1 more (G6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3180252	NM_001192.3(TNFRSF17):c.64A>C (p.Ile22Leu)	LOC130058515, NPIPB2 +1 more (I22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310235	NM_001192.3(TNFRSF17):c.83G>A (p.Cys28Tyr)	LOC130058515, NPIPB2 +1 more (C28Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224965	NM_001192.3(TNFRSF17):c.103C>A (p.Leu35Ile)	LOC130058515, NPIPB2 +1 more (L35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513227	NM_001192.3(TNFRSF17):c.142T>G (p.Ser48Ala)	NPIPB2, TNFRSF17 (S48A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 626032	NM_001192.3(TNFRSF17):c.223T>G (p.Phe75Val)	NPIPB2, TNFRSF17 (F75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3180248	NM_001192.3(TNFRSF17):c.272A>G (p.Asn91Ser)	NPIPB2, TNFRSF17 (N91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602106	NM_001192.3(TNFRSF17):c.380C>T (p.Thr127Ile)	NPIPB2, TNFRSF17 (T127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180249	NM_001192.3(TNFRSF17):c.463A>G (p.Ile155Val)	NPIPB2, TNFRSF17 (I155V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180251	NM_001192.3(TNFRSF17):c.494G>T (p.Cys165Phe)	NPIPB2, TNFRSF17 (C165F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 438792	NM_001192.3(TNFRSF17):c.524C>T (p.Thr175Met)	NPIPB2, TNFRSF17 (T175M)	Single nucleotide variant (missense variant)	Desmoplastic small round cell tumor	Gother
Select item 779009	NM_001192.3(TNFRSF17):c.528G>C (p.Glu176Asp)	NPIPB2, TNFRSF17 (E176D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 2374590	NM_001192.3(TNFRSF17):c.547G>T (p.Ala183Ser)	NPIPB2, TNFRSF17 (A183S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685557	GRCh37/hg19 16p13.13-13.12(chr16:11444572-12722447)x1	BCAR4, GSPT1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2684785	GRCh37/hg19 16p13.13(chr16:11466110-12065032)x3	BCAR4, GSPT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1809399	GRCh37/hg19 16p13.13(chr16:12007435-12073710)x1	GSPT1, SNX29 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526502	GRCh37/hg19 16p13.13-13.12(chr16:11364838-13592668)	SNN, SNX29 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1340054	GRCh37/hg19 16p13.13(chr16:12007434-12085776)x1	GSPT1, SNX29 +1 more	Copy number loss	not provided	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980563	GRCh37/hg19 16p13.13(chr16:12039345-12256698)x3	SNX29, TNFRSF17	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 685893	GRCh37/hg19 16p13.13-13.12(chr16:11922647-12621101)x3	BCAR4, GSPT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564274	GRCh37/hg19 16p13.13-13.12(chr16:12007434-14781381)x1	BFAR, CPPED1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 564273	GRCh37/hg19 16p13.13(chr16:11954001-12161925)x3	GSPT1, TNFRSF17 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 43