ClinVar for Gene (Select 140680) - ClinVar

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

Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2671604	Single allele	ANGPT4, C20orf96 +19 more	Deletion	not provided	GPathogenic
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	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 2406223	NM_153269.3(C20orf96):c.424C>G (p.Leu142Val)	C20orf96 (L141V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259571	NM_153269.3(C20orf96):c.427C>A (p.His143Asn)	C20orf96 (H143N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245013	NM_153269.3(C20orf96):c.338G>T (p.Arg113Leu)	C20orf96 (R112L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235232	NM_153269.3(C20orf96):c.541G>A (p.Glu181Lys)	C20orf96 (E180K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808024	GRCh37/hg19 20p13(chr20:79455-347319)x1	C20orf96, DEFB126 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1526677	GRCh37/hg19 20p13(chr20:242496-742740)	C20orf96, CSNK2A1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 1526675	GRCh37/hg19 20p13(chr20:61568-806878)	C20orf96, CSNK2A1 +16 more	Copy number loss	not specified	GLikely pathogenic
Select item 1047898	GRCh37/hg19 20p13(chr20:67778-974841)	ANGPT4, C20orf96 +19 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 979574	GRCh37/hg19 20p13(chr20:61568-677437)x1	C20orf96, CSNK2A1 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 929370	GRCh37/hg19 20p13(chr20:63244-813880)x1	TRIB3, ZCCHC3 +16 more	Copy number loss	See cases	GPathogenic
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 783855	NM_153269.3(C20orf96):c.183A>G (p.Gln61=)	C20orf96	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685822	GRCh37/hg19 20p13(chr20:61568-491171)x1	C20orf96, CSNK2A1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 635902	NC_000020.10:g.157772_706326dup	C20orf96, CSNK2A1 +12 more	Duplication	Neurodevelopmental disorder	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 443775	GRCh37/hg19 20p13(chr20:61568-619400)x1	C20orf96, CSNK2A1 +13 more	Copy number loss	See cases	GUncertain significance
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 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 442856	GRCh37/hg19 20p13(chr20:61568-431502)x1	C20orf96, DEFB125 +11 more	Copy number loss	See cases	GPathogenic
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 393750	GRCh37/hg19 20p13(chr20:121521-2073612)x1	ANGPT4, C20orf202 +32 more	Copy number loss	See cases	GPathogenic
Select item 253978	GRCh37/hg19 20p13(chr20:241301-584723)x3	C20orf96, CSNK2A1 +8 more	Copy number gain	See cases	GUncertain significance
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 151035	GRCh38/hg38 20p13(chr20:102451-458699)x3	C20orf96, DEFB126 +34 more	Copy number gain	See cases	GLikely benign
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 150049	GRCh38/hg38 20p13(chr20:80106-702368)x3	C20orf96, CSNK2A1 +51 more	Copy number gain	See cases	GUncertain significance
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 146085	GRCh38/hg38 20p13(chr20:89939-364235)x1	C20orf96, DEFB125 +27 more	Copy number loss	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 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 58941	GRCh38/hg38 20p13(chr20:89939-975656)x1	ANGPT4, C20orf96 +64 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 57307	GRCh38/hg38 20p13(chr20:89939-1028206)x3	ANGPT4, C20orf96 +65 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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 67