RAD21L1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 150565	GRCh38/hg38 20p13(chr20:80093-1246766)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GPathogenic
Select item 154852	GRCh38/hg38 20p13(chr20:80106-1246891)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GLikely pathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 146515	GRCh38/hg38 20p13(chr20:89939-1246891)x3	ANGPT4, C20orf202 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC129391148, LOC129391149 +110 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 57188	GRCh38/hg38 20p13(chr20:89939-1360110)x1	ANGPT4, C20orf202 +87 more	Copy number loss	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 58940	GRCh38/hg38 20p13(chr20:828964-1241192)x3	ANGPT4, C20orf202 +21 more	Copy number gain	See cases	GUncertain significance
Select item 3151016	NM_001384355.1(RAD21L1):c.54G>T (p.Trp18Cys)	RAD21L1 (W18C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1244230	NM_001384355.1(RAD21L1):c.85A>T (p.Lys29Ter)	RAD21L1 (K29*)	Single nucleotide variant (nonsense +1 more)	Non-obstructive azoospermia	GPathogenic
Select item 2470924	NM_001384355.1(RAD21L1):c.124G>A (p.Glu42Lys)	RAD21L1 (E42K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151014	NM_001384355.1(RAD21L1):c.290C>T (p.Pro97Leu)	RAD21L1 (P97L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292456	NM_001384355.1(RAD21L1):c.308C>T (p.Ala103Val)	RAD21L1 (A103V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3151015	NM_001384355.1(RAD21L1):c.343C>T (p.His115Tyr)	RAD21L1 (H115Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378907	NM_001384355.1(RAD21L1):c.366G>A (p.Met122Ile)	RAD21L1 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461344	NM_001384355.1(RAD21L1):c.373A>G (p.Ile125Val)	RAD21L1 (I125V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312277	NM_001384355.1(RAD21L1):c.467A>T (p.Glu156Val)	RAD21L1 (E156V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306218	NM_001384355.1(RAD21L1):c.494T>C (p.Leu165Pro)	RAD21L1 (L44P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312276	NM_001384355.1(RAD21L1):c.584G>A (p.Arg195Gln)	RAD21L1 (R195Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151018	NM_001384355.1(RAD21L1):c.598G>A (p.Asp200Asn)	RAD21L1 (D79N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151019	NM_001384355.1(RAD21L1):c.631G>A (p.Ala211Thr)	RAD21L1 (A90T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560266	NM_001384355.1(RAD21L1):c.689T>A (p.Met230Lys)	RAD21L1 (M17K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596753	NM_001384355.1(RAD21L1):c.731A>G (p.Asn244Ser)	RAD21L1 (N244S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2689857	NM_001384355.1(RAD21L1):c.743-1G>A	RAD21L1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2496364	NM_001384355.1(RAD21L1):c.763T>A (p.Cys255Ser)	RAD21L1 (C255S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507828	NM_001384355.1(RAD21L1):c.766A>G (p.Ile256Val)	RAD21L1 (I43V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2469935	NM_001384355.1(RAD21L1):c.845T>C (p.Ile282Thr)	RAD21L1 (I282T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312278	NM_001384355.1(RAD21L1):c.893T>G (p.Leu298Trp)	RAD21L1 (L139W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527527	NM_001384355.1(RAD21L1):c.967A>G (p.Met323Val)	RAD21L1 (M110V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471379	NM_001384355.1(RAD21L1):c.1016A>G (p.Lys339Arg)	RAD21L1 (K126R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565518	NM_001384355.1(RAD21L1):c.1031A>G (p.His344Arg)	RAD21L1 (H344R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498875	NM_001384355.1(RAD21L1):c.1095del (p.Lys365fs)	RAD21L1 (K152fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3151011	NM_001384355.1(RAD21L1):c.1162G>T (p.Val388Leu)	RAD21L1 (V175L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296659	NM_001384355.1(RAD21L1):c.1178T>C (p.Ile393Thr)	RAD21L1 (I180T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273995	NM_001384355.1(RAD21L1):c.1208A>G (p.Asn403Ser)	RAD21L1 (N244S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151012	NM_001384355.1(RAD21L1):c.1256G>A (p.Gly419Asp)	RAD21L1 (G206D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2545372	NM_001384355.1(RAD21L1):c.1278T>G (p.His426Gln)	RAD21L1 (H213Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289727	NM_001384355.1(RAD21L1):c.1306G>C (p.Glu436Gln)	RAD21L1 (E223Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552759	NM_001384355.1(RAD21L1):c.1385A>G (p.Tyr462Cys)	RAD21L1 (Y304C +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591874	NM_001384355.1(RAD21L1):c.1393G>C (p.Val465Leu)	RAD21L1 (V252L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251391	NM_001384355.1(RAD21L1):c.1394T>C (p.Val465Ala)	RAD21L1 (V307A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305845	NM_001384355.1(RAD21L1):c.1423A>G (p.Asn475Asp)	RAD21L1 (N263D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264580	NM_001384355.1(RAD21L1):c.1454T>C (p.Ile485Thr)	RAD21L1 (I272T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770297	NM_001384355.1(RAD21L1):c.1607G>A (p.Ser536Asn)	RAD21L1 (S537N +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2684898	GRCh37/hg19 20p13(chr20:61569-1794919)x3	ANGPT4, C20orf202 +31 more	Copy number gain	not provided	GUncertain significance
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 1809250	GRCh37/hg19 20p13(chr20:992980-1481478)x4	C20orf202, FKBP1A +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808289	GRCh37/hg19 20p13(chr20:1015167-1403720)x3	C20orf202, FKBP1A +5 more	Copy number gain	not provided	GUncertain significance
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 816104	GRCh37/hg19 20p13(chr20:989820-1216980)x3	C20orf202, RAD21L1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 816101	GRCh37/hg19 20p13(chr20:61568-1305971)x1	ANGPT4, C20orf202 +25 more	Copy number loss	not provided	GPathogenic
Select item 816099	GRCh37/hg19 20p13(chr20:61568-2269777)x1	DEFB132, FAM110A +34 more	Copy number loss	not provided	GPathogenic
Select item 688959	GRCh37/hg19 20p13(chr20:728577-1237670)x4	ANGPT4, C20orf202 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564643	GRCh37/hg19 20p13(chr20:61568-2010334)x1	ANGPT4, C20orf202 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443574	GRCh37/hg19 20p13(chr20:381794-1268103)x3	ANGPT4, C20orf202 +13 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	NSFL1C, PCED1A +48 more	Copy number gain	See cases	GUncertain significance
Select item 441596	GRCh37/hg19 20p13(chr20:61568-1651420)x1	ANGPT4, C20orf202 +31 more	Copy number loss	See cases	GLikely pathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 394598	GRCh37/hg19 20p13(chr20:1164613-1229292)x3	C20orf202, RAD21L1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 393750	GRCh37/hg19 20p13(chr20:121521-2073612)x1	ANGPT4, C20orf202 +32 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 202236	GRCh37/hg19 20p13(chr20:71023-2129746)x1	NRSN2, SIRPD +34 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 88