ClinVar for Gene (Select 51126) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171436	NM_016100.5(NAA20):c.475G>A (p.Asp159Asn)	NAA20 (D147N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171431	NM_016100.5(NAA20):c.403A>G (p.Ile135Val)	NAA20 (I123V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171420	NM_016100.5(NAA20):c.191C>T (p.Ser64Leu)	NAA20 (S52L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148932	GRCh37/hg19 20p11.23(chr20:19135948-20372082)x3	CFAP61, CRNKL1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 3068499	Single allele	CFAP61, CRNKL1 +10 more	Complex	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068496	NC_000020.10:g.19434987_22528253del	CFAP61, CRNKL1 +10 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	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 2462717	NM_016100.5(NAA20):c.16G>A (p.Ala6Thr)	LOC130065488, NAA20 (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375282	NM_016100.5(NAA20):c.340G>A (p.Val114Ile)	NAA20 (V102I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275785	NM_016100.5(NAA20):c.257T>C (p.Leu86Pro)	NAA20 (L74P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259613	NM_016100.5(NAA20):c.290A>T (p.Glu97Val)	NAA20 (E97V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526686	GRCh37/hg19 20p11.23-11.22(chr20:19292925-22187397)	CFAP61, CRNKL1 +10 more	Copy number loss	not specified	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1338748	NM_016100.5(NAA20):c.239C>T (p.Ala80Val)	NAA20 (A80V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 73	GPathogenic
Select item 1338747	NM_016100.5(NAA20):c.160A>G (p.Met54Val)	NAA20 (M54V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 73	GLikely pathogenic
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	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 564623	GRCh37/hg19 20p11.23(chr20:19907775-20236591)x3	RIN2, CFAP61 +2 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
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 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	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 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic
Select item 221545	GRCh37/hg19 20p11.23(chr20:19662569-20003113)x3	NAA20, RIN2 +1 more	Copy number gain	Breast ductal adenocarcinoma	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 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 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 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	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

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Links from Gene

Items: 36