ClinVar for Gene (Select 8718) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327525	NM_003790.3(TNFRSF25):c.1184C>A (p.Ala395Glu)	TNFRSF25 (A212E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327524	NM_003790.3(TNFRSF25):c.569G>A (p.Arg190His)	TNFRSF25 (R145H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327523	NM_003790.3(TNFRSF25):c.1201G>C (p.Gly401Arg)	TNFRSF25 (G410R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3180288	NM_003790.3(TNFRSF25):c.886G>A (p.Val296Met)	TNFRSF25 (V113M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180287	NM_003790.3(TNFRSF25):c.668C>T (p.Thr223Ile)	TNFRSF25 (T223I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180286	NM_003790.3(TNFRSF25):c.446G>A (p.Arg149His)	TNFRSF25 (R104H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180285	NM_003790.3(TNFRSF25):c.377A>G (p.Gln126Arg)	TNFRSF25 (Q126R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180284	NM_003790.3(TNFRSF25):c.1231A>G (p.Ser411Gly)	TNFRSF25 (S228G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180283	NM_003790.3(TNFRSF25):c.1195C>T (p.Arg399Cys)	TNFRSF25 (R399C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180282	NM_003790.3(TNFRSF25):c.1139A>C (p.Lys380Thr)	TNFRSF25 (K197T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180281	NM_003790.3(TNFRSF25):c.1075G>A (p.Ala359Thr)	TNFRSF25 (A322T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3058208	NM_003790.3(TNFRSF25):c.72C>T (p.Ala24=)	TNFRSF25	Single nucleotide variant (synonymous variant)	TNFRSF25-related disorder	GLikely benign
Select item 3056652	NM_003790.3(TNFRSF25):c.476A>G (p.Asp159Gly)	TNFRSF25 (D114G +1 more)	Single nucleotide variant (missense variant +1 more)	TNFRSF25-related disorder	GBenign
Select item 3056091	NM_003790.3(TNFRSF25):c.387A>G (p.Gln129=)	TNFRSF25	Single nucleotide variant (synonymous variant +1 more)	TNFRSF25-related disorder	GBenign
Select item 3051801	NM_003790.3(TNFRSF25):c.816C>T (p.Cys272=)	TNFRSF25	Single nucleotide variant (synonymous variant)	TNFRSF25-related disorder	GLikely benign
Select item 3050556	NM_003790.3(TNFRSF25):c.1047G>A (p.Glu349=)	TNFRSF25	Single nucleotide variant (synonymous variant)	TNFRSF25-related disorder	GLikely benign
Select item 3049400	NM_003790.3(TNFRSF25):c.108C>T (p.Ala36=)	TNFRSF25	Single nucleotide variant (synonymous variant)	TNFRSF25-related disorder	GLikely benign
Select item 3044857	NM_003790.3(TNFRSF25):c.372G>A (p.Glu124=)	TNFRSF25	Single nucleotide variant (synonymous variant +1 more)	TNFRSF25-related disorder	GBenign
Select item 3034589	NM_003790.3(TNFRSF25):c.696C>T (p.Pro232=)	TNFRSF25	Single nucleotide variant (synonymous variant +1 more)	TNFRSF25-related disorder	GLikely benign
Select item 2685794	GRCh37/hg19 1p36.31(chr1:6498150-6886649)x3	PLEKHG5, TNFRSF25 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638122	NM_003790.3(TNFRSF25):c.624T>A (p.Ala208=)	TNFRSF25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623040	NM_003790.3(TNFRSF25):c.664T>C (p.Tyr222His)	TNFRSF25 (Y177H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620400	NM_003790.3(TNFRSF25):c.113A>G (p.Asp38Gly)	TNFRSF25 (D38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604530	NM_003790.3(TNFRSF25):c.779C>A (p.Thr260Asn)	TNFRSF25 (T260N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	ACOT7, ACTRT2 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2549401	NM_003790.3(TNFRSF25):c.1066C>G (p.Leu356Val)	TNFRSF25 (L319V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514021	NM_003790.3(TNFRSF25):c.743C>T (p.Pro248Leu)	TNFRSF25 (P257L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492390	NM_003790.3(TNFRSF25):c.11G>C (p.Arg4Pro)	TNFRSF25 (R4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2408514	NM_003790.3(TNFRSF25):c.955G>C (p.Glu319Gln)	TNFRSF25 (E136Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403301	NM_003790.3(TNFRSF25):c.599T>C (p.Met200Thr)	TNFRSF25 (M155T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393023	NM_003790.3(TNFRSF25):c.523G>A (p.Gly175Ser)	TNFRSF25 (G175S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2315639	NM_003790.3(TNFRSF25):c.584G>A (p.Cys195Tyr)	TNFRSF25 (C195Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311006	NM_003790.3(TNFRSF25):c.886G>T (p.Val296Leu)	TNFRSF25 (V113L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294381	NM_003790.3(TNFRSF25):c.285T>G (p.Cys95Trp)	TNFRSF25 (C95W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268086	NM_003790.3(TNFRSF25):c.1037G>C (p.Arg346Pro)	TNFRSF25 (R163P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260500	NM_003790.3(TNFRSF25):c.64G>A (p.Ala22Thr)	TNFRSF25 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222607	NM_003790.3(TNFRSF25):c.854A>G (p.Tyr285Cys)	TNFRSF25 (Y102C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213044	NM_003790.3(TNFRSF25):c.95G>A (p.Arg32Lys)	TNFRSF25 (R32K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808536	GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1	ACOT7, CAMTA1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703625	GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)	ICMT, KLHL21 +19 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1526428	GRCh37/hg19 1p36.31-36.23(chr1:6360146-7888730)	ACOT7, CAMTA1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1184370	NC_000001.11:g.6234122_6508845dup	ACOT7, ESPN +35 more	Duplication	not provided	GUncertain significance
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 874693	NM_020631.4(PLEKHG5):c.*1405A>G	PLEKHG5, TNFRSF25	Single nucleotide variant (5 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 789686	NM_003790.3(TNFRSF25):c.745-10T>C	TNFRSF25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777869	NM_003790.3(TNFRSF25):c.426A>G (p.Leu142=)	TNFRSF25	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 719229	NM_003790.3(TNFRSF25):c.771C>T (p.Ser257=)	TNFRSF25	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 565059	GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 443883	GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	ACAP3, ACOT7 +106 more	Copy number loss	See cases	GPathogenic
Select item 443478	GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	ACAP3, ACOT7 +98 more	Copy number loss	See cases	GPathogenic
Select item 442741	GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1	ACOT7, ACTRT2 +34 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 393825	GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3	ACTRT2, AJAP1 +35 more	Copy number gain	See cases	GBenign
Select item 297905	NM_020631.4(PLEKHG5):c.1413_1420delAGAGCACG	PLEKHG5, TNFRSF25	Deletion (5 prime UTR variant)	Distal spinal muscular atrophy	GBenign
Select item 297904	NM_020631.4(PLEKHG5):c.*1440C>T	PLEKHG5, TNFRSF25	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
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 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 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 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 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 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 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 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 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 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 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 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic

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