SERPINB13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	CTDP1-DT, CYB5A +450 more	Copy number loss	See cases	GPathogenic
Select item 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	SERPINB13, SERPINB2 +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	LOC130062750, LOC130062751 +430 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 146258	GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	ADNP2, ATP9B +426 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	ADNP2, ATP9B +373 more	Copy number loss	See cases	GPathogenic
Select item 151208	GRCh38/hg38 18q21.33-22.1(chr18:63144445-64588458)x3	BCL2, HMSD +56 more	Copy number gain	See cases	GUncertain significance
Select item 58784	GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3	ADNP2, ATP9B +348 more	Copy number gain	See cases	GPathogenic
Select item 146574	GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1	ADNP2, ATP9B +347 more	Copy number loss	See cases	GPathogenic
Select item 2524859	NM_012397.4(SERPINB13):c.106A>T (p.Thr36Ser)	LOC126862774, SERPINB13 (T36S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612574	NM_012397.4(SERPINB13):c.148G>T (p.Ala50Ser)	LOC126862774, SERPINB13 (A50S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232142	NM_012397.4(SERPINB13):c.148G>C (p.Ala50Pro)	LOC126862774, SERPINB13 (A50P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348378	NM_012397.4(SERPINB13):c.188C>T (p.Thr63Met)	LOC126862774, SERPINB13 (T63M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788137	NM_012397.4(SERPINB13):c.189G>A (p.Thr63=)	LOC126862774, SERPINB13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2366958	NM_012397.4(SERPINB13):c.221A>T (p.Glu74Val)	LOC126862774, SERPINB13 (E74V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395969	NM_012397.4(SERPINB13):c.251A>T (p.Gln84Leu)	SERPINB13 (Q84L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2295671	NM_012397.4(SERPINB13):c.335A>G (p.Lys112Arg)	SERPINB13 (K121R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517852	NM_012397.4(SERPINB13):c.380A>G (p.Tyr127Cys)	SERPINB13 (Y136C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160400	NM_012397.4(SERPINB13):c.395T>C (p.Leu132Pro)	SERPINB13 (L132P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337005	NM_012397.4(SERPINB13):c.407A>G (p.Asp136Gly)	SERPINB13 (D145G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160401	NM_012397.4(SERPINB13):c.514T>C (p.Ser172Pro)	SERPINB13 (S172P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254993	NM_012397.4(SERPINB13):c.553G>A (p.Gly185Arg)	SERPINB13 (G194R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473330	NM_012397.4(SERPINB13):c.584A>G (p.Asn195Ser)	SERPINB13 (N204S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339957	NM_012397.4(SERPINB13):c.597G>T (p.Glu199Asp)	SERPINB13 (E20D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160402	NM_012397.4(SERPINB13):c.601T>C (p.Phe201Leu)	SERPINB13 (F210L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492707	NM_012397.4(SERPINB13):c.647A>G (p.Gln216Arg)	SERPINB13 (Q37R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216311	NM_012397.4(SERPINB13):c.666C>G (p.Phe222Leu)	SERPINB13 (F222L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230634	NM_012397.4(SERPINB13):c.691A>C (p.Lys231Gln)	SERPINB13 (K231Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483180	NM_012397.4(SERPINB13):c.700G>A (p.Gly234Arg)	SERPINB13 (G55R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160403	NM_012397.4(SERPINB13):c.721G>A (p.Asp241Asn)	SERPINB13 (D241N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293615	NM_012397.4(SERPINB13):c.788G>A (p.Ser263Asn)	SERPINB13 (S84N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533408	NM_012397.4(SERPINB13):c.837A>T (p.Arg279Ser)	SERPINB13 (R143S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160404	NM_012397.4(SERPINB13):c.839A>G (p.Lys280Arg)	SERPINB13 (K101R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322565	NM_012397.4(SERPINB13):c.883G>A (p.Asp295Asn)	SERPINB13 (D116N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219298	NM_012397.4(SERPINB13):c.893C>T (p.Ala298Val)	SERPINB13 (A298V +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2598387	NM_012397.4(SERPINB13):c.917G>A (p.Gly306Asp)	SERPINB13 (G170D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310509	NM_012397.4(SERPINB13):c.956T>C (p.Met319Thr)	SERPINB13 (M140T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483723	NM_012397.4(SERPINB13):c.958T>C (p.Ser320Pro)	SERPINB13 (S320P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468015	NM_012397.4(SERPINB13):c.1034C>G (p.Ala345Gly)	SERPINB13 (A345G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620030	NM_012397.4(SERPINB13):c.1082A>G (p.His361Arg)	SERPINB13 (H182R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317591	NM_012397.4(SERPINB13):c.1083T>G (p.His361Gln)	SERPINB13 (H225Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3062371	GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3	BCL2, CBLN2 +30 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 1808639	GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	ADNP2, ALPK2 +80 more	Copy number loss	not provided	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526630	GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)	FBXO15, SLC66A2 +57 more	Copy number loss	not specified	GPathogenic
Select item 1526628	GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)	PHLPP1, PIGN +58 more	Copy number loss	not specified	GPathogenic
Select item 1526627	GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	SERPINB3, ZCCHC2 +81 more	Copy number loss	not specified	GPathogenic
Select item 1526624	GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526623	GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526622	GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526620	GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)	ALPK2, ATP8B1 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1514710	NC_000018.9:g.(?_59713089)_(61654512_?)dup	BCL2, HMSD +17 more	Duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1403561	NC_000018.9:g.(?_59713089)_(61654512_?)del	PHLPP1, PIGN +17 more	Deletion	not provided	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 1176065	GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	LINC-ROR, LINC00683 +80 more	Copy number loss	not provided	GPathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	PARD6G, PHLPP1 +85 more	Copy number gain	Global developmental delay	GPathogenic
Select item 816053	GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1	TXNL4A, CYB5A +53 more	Copy number loss	not provided	GPathogenic
Select item 816052	GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1	ZNF236, CYB5A +66 more	Copy number loss	not provided	GPathogenic
Select item 816051	GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1	PHLPP1, MC4R +72 more	Copy number loss	not provided	GPathogenic
Select item 816050	GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	BOD1L2, SALL3 +90 more	Copy number loss	not provided	GPathogenic
Select item 686410	GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	ACAA2, ALPK2 +66 more	Copy number gain	not provided	GPathogenic
Select item 626290	Single allele	ADNP2, ATP9B +59 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
Select item 564570	GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1	PMAIP1, GALR1 +72 more	Copy number loss	not provided	GPathogenic
Select item 564569	GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1	DIPK1C, SLC66A2 +64 more	Copy number loss	not provided	GPathogenic
Select item 564567	GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1	CDH7, DOK6 +55 more	Copy number loss	not provided	GPathogenic

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