SERPINB2[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 150640	GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	LOC112543433, LOC116276492 +320 more	Copy number loss	See cases	GPathogenic
Select item 153691	GRCh38/hg38 18q21.33-22.1(chr18:63819028-66637566)x1	CDH19, CDH7 +21 more	Copy number loss	See cases	GUncertain significance
Select item 146120	GRCh38/hg38 18q21.33-22.1(chr18:63846473-66558774)x1	CDH19, CDH7 +21 more	Copy number loss	See cases	GPathogenic
Select item 3160406	NM_002575.3(SERPINB2):c.124G>A (p.Val42Ile)	SERPINB2 (V42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160407	NM_002575.3(SERPINB2):c.225C>A (p.Asn75Lys)	SERPINB2 (N75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761655	NM_002575.3(SERPINB2):c.239G>A (p.Gly80Glu)	SERPINB2 (G80E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2370152	NM_002575.3(SERPINB2):c.251A>C (p.Gln84Pro)	SERPINB2 (Q84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454905	NM_002575.3(SERPINB2):c.252G>C (p.Gln84His)	SERPINB2 (Q84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768938	NM_002575.3(SERPINB2):c.279G>A (p.Ala93=)	SERPINB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3317593	NM_002575.3(SERPINB2):c.317C>A (p.Ser106Tyr)	SERPINB2 (S106Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402495	NM_002575.3(SERPINB2):c.322C>T (p.Arg108Cys)	SERPINB2 (R108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744522	NM_002575.3(SERPINB2):c.405G>A (p.Ala135=)	SERPINB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2233935	NM_002575.3(SERPINB2):c.442T>C (p.Tyr148His)	SERPINB2 (Y148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780481	NM_002575.3(SERPINB2):c.536-4G>A	SERPINB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3160408	NM_002575.3(SERPINB2):c.545C>T (p.Pro182Leu)	SERPINB2 (P182L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317595	NM_002575.3(SERPINB2):c.601G>A (p.Ala201Thr)	SERPINB2 (A201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561009	NM_002575.3(SERPINB2):c.668G>A (p.Arg223His)	SERPINB2 (R223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728330	NM_002575.3(SERPINB2):c.686G>A (p.Arg229His)	SERPINB2 (R229H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2521828	NM_002575.3(SERPINB2):c.704T>A (p.Met235Lys)	SERPINB2 (M235K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536307	NM_002575.3(SERPINB2):c.707A>G (p.Tyr236Cys)	SERPINB2 (Y236C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218411	NM_002575.3(SERPINB2):c.712C>T (p.Arg238Cys)	SERPINB2 (R238C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160409	NM_002575.3(SERPINB2):c.713G>A (p.Arg238His)	SERPINB2 (R238H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398937	NM_002575.3(SERPINB2):c.728T>C (p.Ile243Thr)	SERPINB2 (I243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522509	NM_002575.3(SERPINB2):c.736A>G (p.Ile246Val)	SERPINB2 (I246V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716695	NM_002575.3(SERPINB2):c.801G>A (p.Leu267=)	SERPINB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747521	NM_002575.3(SERPINB2):c.819C>T (p.Ala273=)	SERPINB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2454781	NM_002575.3(SERPINB2):c.887G>A (p.Ser296Asn)	SERPINB2 (S296N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317592	NM_002575.3(SERPINB2):c.928C>A (p.Pro310Thr)	SERPINB2 (P310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160405	NM_002575.3(SERPINB2):c.1010G>A (p.Arg337Gln)	SERPINB2 (R337Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616323	NM_002575.3(SERPINB2):c.1046T>C (p.Leu349Pro)	SERPINB2 (L349P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714227	NM_002575.3(SERPINB2):c.1111G>A (p.Ala371Thr)	SERPINB2 (A371T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 786343	NM_002575.3(SERPINB2):c.1121G>C (p.Gly374Ala)	SERPINB2 (G374A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2480398	NM_002575.3(SERPINB2):c.1126G>A (p.Val376Ile)	SERPINB2 (V376I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2618874	NM_002575.3(SERPINB2):c.1153G>C (p.Gly385Arg)	SERPINB2 (G385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204733	NM_002575.3(SERPINB2):c.1204A>G (p.Ile402Val)	SERPINB2 (I402V)	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 1808243	GRCh37/hg19 18q21.33-22.1(chr18:61483089-64304841)x1	CDH19, CDH7 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1807707	GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1	ADNP2, ATP9B +41 more	Copy number loss	not provided	GPathogenic
Select item 1703624	GRCh37/hg19 18q21.33-23(chr18:61289055-78014123)	ADNP2, ATP9B +45 more	Copy number loss	Deletion of long arm of chromosome 18	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	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

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