ClinVar for Gene (Select 64773) - ClinVar

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

Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +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 2652154	NM_022760.6(PCED1A):c.788C>T (p.Thr263Ile)	LOC130065314, PCED1A (T212I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2514175	NM_022760.6(PCED1A):c.625G>A (p.Asp209Asn)	LOC130065314, PCED1A (D158N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498877	NM_022575.4(VPS16):c.-6C>G	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2480187	NM_022760.6(PCED1A):c.155T>A (p.Leu52His)	PCED1A (L52H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467290	NM_022760.6(PCED1A):c.992C>T (p.Pro331Leu)	PCED1A (P331L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459448	NM_022760.6(PCED1A):c.1282C>T (p.Arg428Trp)	PCED1A (R377W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2396707	NM_022760.6(PCED1A):c.724C>T (p.Arg242Cys)	LOC130065314, PCED1A (R191C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365286	NM_022760.6(PCED1A):c.893A>G (p.His298Arg)	PCED1A (H247R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338403	NM_022760.6(PCED1A):c.1192C>T (p.His398Tyr)	PCED1A (H398Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329495	NM_022760.6(PCED1A):c.1064A>G (p.His355Arg)	PCED1A (H355R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298297	NM_022760.6(PCED1A):c.623G>A (p.Arg208Gln)	LOC130065314, PCED1A (R208Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277396	NM_022760.6(PCED1A):c.1325A>G (p.Asp442Gly)	PCED1A (D391G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267426	NM_022760.6(PCED1A):c.670C>T (p.His224Tyr)	LOC130065314, PCED1A (H173Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257965	NM_022760.6(PCED1A):c.1108C>T (p.Pro370Ser)	PCED1A (P370S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250690	NM_022760.6(PCED1A):c.488G>A (p.Arg163Gln)	PCED1A (R112Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248018	NM_022760.6(PCED1A):c.833A>G (p.Tyr278Cys)	LOC130065314, PCED1A (Y227C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234690	NM_022760.6(PCED1A):c.382C>A (p.Leu128Met)	PCED1A (L128M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225848	NM_022760.6(PCED1A):c.619C>T (p.Arg207Trp)	LOC130065314, PCED1A (R207W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218100	NM_022760.6(PCED1A):c.1058C>A (p.Pro353Gln)	PCED1A (P353Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211623	NM_022575.4(VPS16):c.5A>G (p.Asp2Gly)	PCED1A, VPS16 (D2G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207552	NM_022760.6(PCED1A):c.1012C>G (p.Pro338Ala)	PCED1A (P287A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879531	NM_022575.4(VPS16):c.51C>G (p.Tyr17Ter)	PCED1A, VPS16 (Y17*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1706505	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	SPEF1, UBOX5 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1286534	NM_022575.4(VPS16):c.53+128C>T	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1268336	NM_022575.4(VPS16):c.-21C>T	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1259313	NM_022575.4(VPS16):c.53+55C>T	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1246266	NM_022760.6(PCED1A):c.-309G>A	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 979576	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	OXT, LZTS3 +26 more	Copy number gain	not provided	GUncertain significance
Select item 816106	GRCh37/hg19 20p13(chr20:2806498-4007381)x1	CDC25B, AVP +26 more	Copy number loss	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 685366	GRCh37/hg19 20p13(chr20:2738670-3054217)x3	C20orf141, CPXM1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564615	GRCh37/hg19 20p13(chr20:2802218-2970332)x1	PCED1A, PTPRA +1 more	Copy number loss	not provided	GUncertain significance
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADRA1D +58 more	Copy number loss	See cases	GPathogenic
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	KIF3B, KIZ +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 443254	GRCh37/hg19 20p13(chr20:2802218-4019837)x1	ADAM33, AP5S1 +26 more	Copy number loss	See cases	GUncertain significance
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	ANGPT4, C20orf141 +48 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +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 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 155405	GRCh38/hg38 20p13(chr20:2526755-3081651)x3	C20orf141, CPXM1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065331, LOC130065332 +300 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC130065300, LOC130065301 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +828 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	ADAM33, ADISSP +347 more	Copy number gain	See cases	GPathogenic
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	ADAM33, ADISSP +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	MCM8, MCM8-AS1 +455 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC130065416, LOC130065417 +579 more	Copy number gain	See cases	GPathogenic
Select item 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	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: 62