SERPINB4[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	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	ACAA2, ADNP2 +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	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC125371434, LOC125371435 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	ACAA2, ADNP2 +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	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	LOC130062661, LOC130062662 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC130062755, LOC130062756 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062777, LOC130062778 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC130062712, LOC130062713 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC110121390, LOC111365201 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	ADNP2, ALPK2 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	ADNP2, ALPK2 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	ADNP2, ATP9B +450 more	Copy number loss	See cases	GPathogenic
Select item 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	BCL2, CBLN2 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	ADNP2, ATP9B +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LINC01544, LINC01879 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	TSHZ1, TXNL4A +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	KCNG2, KDSR +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	LOC110121330, LOC112543432 +347 more	Copy number loss	See cases	GPathogenic
Select item 2285122	NM_002974.4(SERPINB4):c.1127A>G (p.Asn376Ser)	SERPINB4 (N355S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332504	NM_002974.4(SERPINB4):c.1119A>G (p.Ile373Met)	SERPINB4 (I352M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597570	NM_002974.4(SERPINB4):c.1090T>C (p.Cys364Arg)	SERPINB4 (C364R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354283	NM_002974.4(SERPINB4):c.917A>G (p.Asn306Ser)	SERPINB4 (N285S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160427	NM_002974.4(SERPINB4):c.916A>G (p.Asn306Asp)	SERPINB4 (N306D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160426	NM_002974.4(SERPINB4):c.916A>C (p.Asn306His)	SERPINB4 (N306H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390877	NM_002974.4(SERPINB4):c.893C>G (p.Thr298Arg)	SERPINB4 (T298R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331557	NM_002974.4(SERPINB4):c.667T>A (p.Leu223Met)	SERPINB4 (L223M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160425	NM_002974.4(SERPINB4):c.660T>A (p.Asn220Lys)	SERPINB4 (N220K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483181	NM_002974.4(SERPINB4):c.636G>T (p.Met212Ile)	SERPINB4 (M212I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160424	NM_002974.4(SERPINB4):c.635T>C (p.Met212Thr)	SERPINB4 (M212T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468856	NM_002974.4(SERPINB4):c.603G>C (p.Trp201Cys)	SERPINB4 (W201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468855	NM_002974.4(SERPINB4):c.602G>T (p.Trp201Leu)	SERPINB4 (W201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311921	NM_002974.4(SERPINB4):c.583A>G (p.Thr195Ala)	SERPINB4 (T195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558392	NM_002974.4(SERPINB4):c.569T>C (p.Phe190Ser)	SERPINB4 (F190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217251	NM_002974.4(SERPINB4):c.563A>G (p.Asn188Ser)	SERPINB4 (N188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332201	NM_002974.4(SERPINB4):c.532A>C (p.Asn178His)	SERPINB4 (N178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207385	NM_002974.4(SERPINB4):c.515C>T (p.Thr172Met)	SERPINB4 (T172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160423	NM_002974.4(SERPINB4):c.503T>C (p.Ile168Thr)	SERPINB4 (I168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521343	NM_002974.4(SERPINB4):c.490C>A (p.Pro164Thr)	SERPINB4 (P164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216456	NM_002974.4(SERPINB4):c.485T>C (p.Leu162Pro)	SERPINB4 (L162P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161604	NM_002974.4(SERPINB4):c.476T>A (p.Ile159Asn)	SERPINB4 (I159N)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3160422	NM_002974.4(SERPINB4):c.361G>A (p.Asp121Asn)	LOC126862775, SERPINB4 (D121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160421	NM_002974.4(SERPINB4):c.325G>A (p.Gly109Arg)	LOC126862775, SERPINB4 (G109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160420	NM_002974.4(SERPINB4):c.289G>A (p.Asp97Asn)	LOC126862775, SERPINB4 (D97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160419	NM_002974.4(SERPINB4):c.229A>G (p.Arg77Gly)	LOC126862775, SERPINB4 (R77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363478	NM_002974.4(SERPINB4):c.203A>G (p.Glu68Gly)	SERPINB4 (E68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294983	NM_002974.4(SERPINB4):c.80T>C (p.Ile27Thr)	SERPINB4 (I27T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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	BCL2, HMSD +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	PTGR3, RAX +80 more	Copy number loss	not provided	GPathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	LINC01415, LINC01879 +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
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

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