PCED1A[gene] - ClinVar

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Items: 72

	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 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 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 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 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
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 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 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 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 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 3305077	NM_022760.6(PCED1A):c.1345T>G (p.Ser449Ala)	PCED1A (S398A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277396	NM_022760.6(PCED1A):c.1325A>G (p.Asp442Gly)	PCED1A (D391G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459448	NM_022760.6(PCED1A):c.1282C>T (p.Arg428Trp)	PCED1A (R377W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305078	NM_022760.6(PCED1A):c.1278G>T (p.Arg426Ser)	PCED1A (R375S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210147	NM_022760.6(PCED1A):c.1268G>A (p.Gly423Glu)	PCED1A (G372E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305076	NM_022760.6(PCED1A):c.1249C>G (p.His417Asp)	PCED1A (H366D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210146	NM_022760.6(PCED1A):c.1225C>T (p.Arg409Cys)	PCED1A (R358C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338403	NM_022760.6(PCED1A):c.1192C>T (p.His398Tyr)	PCED1A (H398Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257965	NM_022760.6(PCED1A):c.1108C>T (p.Pro370Ser)	PCED1A (P370S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329495	NM_022760.6(PCED1A):c.1064A>G (p.His355Arg)	PCED1A (H355R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218100	NM_022760.6(PCED1A):c.1058C>A (p.Pro353Gln)	PCED1A (P353Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207552	NM_022760.6(PCED1A):c.1012C>G (p.Pro338Ala)	PCED1A (P287A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467290	NM_022760.6(PCED1A):c.992C>T (p.Pro331Leu)	PCED1A (P331L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210152	NM_022760.6(PCED1A):c.931C>T (p.Leu311Phe)	PCED1A (L260F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365286	NM_022760.6(PCED1A):c.893A>G (p.His298Arg)	PCED1A (H247R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210151	NM_022760.6(PCED1A):c.873T>A (p.Asn291Lys)	PCED1A (N240K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210149	NM_022760.6(PCED1A):c.860G>C (p.Trp287Ser)	PCED1A (W287S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248018	NM_022760.6(PCED1A):c.833A>G (p.Tyr278Cys)	LOC130065314, PCED1A (Y227C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2396707	NM_022760.6(PCED1A):c.724C>T (p.Arg242Cys)	LOC130065314, PCED1A (R191C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267426	NM_022760.6(PCED1A):c.670C>T (p.His224Tyr)	LOC130065314, PCED1A (H173Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514175	NM_022760.6(PCED1A):c.625G>A (p.Asp209Asn)	LOC130065314, PCED1A (D158N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298297	NM_022760.6(PCED1A):c.623G>A (p.Arg208Gln)	LOC130065314, PCED1A (R208Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225848	NM_022760.6(PCED1A):c.619C>T (p.Arg207Trp)	LOC130065314, PCED1A (R207W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250690	NM_022760.6(PCED1A):c.488G>A (p.Arg163Gln)	PCED1A (R112Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234690	NM_022760.6(PCED1A):c.382C>A (p.Leu128Met)	PCED1A (L128M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210148	NM_022760.6(PCED1A):c.344G>A (p.Arg115His)	PCED1A (R115H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480187	NM_022760.6(PCED1A):c.155T>A (p.Leu52His)	PCED1A (L52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1246266	NC_000020.11:g.2840498C>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 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 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 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 1259313	NM_022575.4(VPS16):c.53+55C>T	VPS16, PCED1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
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	PTPRA, RAD21L1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	MIR1292, MRPS26 +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 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	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 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, ADISSP +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	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 443254	GRCh37/hg19 20p13(chr20:2802218-4019837)x1	ADAM33, ADISSP +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	NSFL1C, PCED1A +48 more	Copy number gain	See cases	GUncertain significance
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 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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Items: 72