ClinVar for Gene (Select 642636) - ClinVar

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Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 2689857	NM_001384355.1(RAD21L1):c.743-1G>A	RAD21L1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
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 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 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 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
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 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 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 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 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 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 2498875	NM_001384355.1(RAD21L1):c.1095del (p.Lys365fs)	RAD21L1 (K152fs +2 more)	Deletion (frameshift variant)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1244230	NM_001384355.1(RAD21L1):c.85A>T (p.Lys29Ter)	RAD21L1 (K29*)	Single nucleotide variant (nonsense +1 more)	Non-obstructive azoospermia	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 770297	NM_001384355.1(RAD21L1):c.1607G>A (p.Ser536Asn)	RAD21L1 (S537N +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	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 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	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 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 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	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 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 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	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 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 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 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 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 58940	GRCh38/hg38 20p13(chr20:828964-1241192)x3	ANGPT4, C20orf202 +21 more	Copy number gain	See cases	GUncertain significance
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

ClinVar

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Links from Gene

Items: 88