ClinVar for Gene (Select 5275) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 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	LMAN1, MALT1 +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 788137	NM_012397.4(SERPINB13):c.189G>A (p.Thr63=)	LOC126862774, SERPINB13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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
Select item 564566	GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1	ZNF236, TIMM21 +52 more	Copy number loss	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443563	GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 443274	GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	LINC01879, LMAN1 +101 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 more	Copy number gain	See cases	GPathogenic
Select item 442460	GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1	ADNP2, ALPK2 +79 more	Copy number loss	See cases	GPathogenic
Select item 442435	GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1	ADNP2, ATP9B +56 more	Copy number loss	See cases	GPathogenic
Select item 442227	GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1	ADNP2, ATP9B +55 more	Copy number loss	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441859	GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1	ADNP2, ATP9B +58 more	Copy number loss	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 441661	GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	WDR7, ZCCHC2 +109 more	Copy number loss	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 395271	GRCh37/hg19 18q21.33(chr18:61144239-61325868)x3	SERPINB12, SERPINB13 +3 more	Copy number gain	See cases	GUncertain significance
Select item 369836	GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1	ADNP2, ATP9B +57 more	Copy number loss	not provided	GLikely pathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253575	GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3	SOCS6, SERPINB10 +58 more	Copy number gain	See cases	GPathogenic
Select item 253425	GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1	CDH19, CDH7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
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 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +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 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
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 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 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 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	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 151208	GRCh38/hg38 18q21.33-22.1(chr18:63144445-64588458)x3	BCL2, HMSD +56 more	Copy number gain	See cases	GUncertain significance
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	SERPINB13, SERPINB2 +436 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 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	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 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 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

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