ClinVar for Gene (Select 5273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317585	NM_005024.3(SERPINB10):c.1016A>G (p.Lys339Arg)	SERPINB10 (K339R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317583	NM_005024.3(SERPINB10):c.92C>T (p.Ser31Phe)	SERPINB10 (S31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317582	NM_005024.3(SERPINB10):c.254C>T (p.Ser85Leu)	SERPINB10 (S85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317581	NM_005024.3(SERPINB10):c.35C>T (p.Ala12Val)	SERPINB10 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317580	NM_005024.3(SERPINB10):c.989A>G (p.Asn330Ser)	SERPINB10 (N330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160382	NM_005024.3(SERPINB10):c.940G>A (p.Ala314Thr)	SERPINB10 (A314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160380	NM_005024.3(SERPINB10):c.647C>A (p.Pro216Gln)	SERPINB10 (P216Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160379	NM_005024.3(SERPINB10):c.585T>A (p.His195Gln)	SERPINB10 (H195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160378	NM_005024.3(SERPINB10):c.481C>G (p.Gln161Glu)	SERPINB10 (Q161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160377	NM_005024.3(SERPINB10):c.338C>T (p.Ala113Val)	SERPINB10 (A113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160376	NM_005024.3(SERPINB10):c.1182A>T (p.Leu394Phe)	SERPINB10 (L394F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160375	NM_005024.3(SERPINB10):c.1134C>A (p.Phe378Leu)	SERPINB10 (F378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160374	NM_005024.3(SERPINB10):c.1091G>T (p.Arg364Ile)	SERPINB10 (R364I)	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 2525067	NM_005024.3(SERPINB10):c.977C>T (p.Ser326Phe)	SERPINB10 (S326F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512812	NM_005024.3(SERPINB10):c.543G>T (p.Met181Ile)	SERPINB10 (M181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465866	NM_005024.3(SERPINB10):c.251A>G (p.Asn84Ser)	SERPINB10 (N84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374728	NM_005024.3(SERPINB10):c.1112A>G (p.Asn371Ser)	SERPINB10 (N371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268181	NM_005024.3(SERPINB10):c.734G>A (p.Ser245Asn)	SERPINB10 (S245N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219551	NM_005024.3(SERPINB10):c.551T>G (p.Val184Gly)	SERPINB10 (V184G)	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 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 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	CBLN2, HMSD +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 687243	GRCh37/hg19 18q21.33-22.1(chr18:61388176-62052163)x1	HMSD, SERPINB10 +4 more	Copy number loss	not provided	GUncertain significance
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 564544	GRCh37/hg19 18q21.33-22.1(chr18:61486262-64304803)x1	CDH19, CDH7 +4 more	Copy number loss	not provided	GUncertain significance
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 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 221348	Single allele	CDH7, HMSD +5 more	Complex	Breast ductal adenocarcinoma	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 153691	GRCh38/hg38 18q21.33-22.1(chr18:63819028-66637566)x1	CDH19, CDH7 +21 more	Copy number loss	See cases	GUncertain significance
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 150640	GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	LOC112543433, LOC116276492 +320 more	Copy number loss	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
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	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 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 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 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	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 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	LOC130062750, LOC130062751 +430 more	Copy number loss	See cases	GPathogenic

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