ClinVar for Gene (Select 5271) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4851223	GRCh37/hg19 18q21.1-22.1(chr18:47267634-61639548)x1	ACAA2, ALPK2 +63 more	Copy number loss	not specified	GPathogenic
Select item 4851164	GRCh37/hg19 18q21.33-22.1(chr18:61195659-64583219)x1	SERPINB13, SERPINB2 +10 more	Copy number loss	not specified	GUncertain significance
Select item 4850398	NM_002640.4(SERPINB8):c.721-2A>G	SERPINB8	Single nucleotide variant (intron variant +1 more)	Peeling skin syndrome 5	GLikely pathogenic
Select item 4820275	NC_000018.10:g.(15400000_21500000)_80373285dup	LOC129390965, LOC129390966 +1276 more	Duplication	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 4820056	Multiple alleles	LOC129390965, LOC129390966 +1276 more	Deletion	Partial 18p monosomy with 18q trisomy	GPathogenic
Select item 4803967	NM_002640.4(SERPINB8):c.342A>G (p.Ala114=)	SERPINB8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 4798212	NM_002640.4(SERPINB8):c.823G>A (p.Glu275Lys)	SERPINB8 (E275K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 4796208	GRCh38/hg38 18q11.1-23(chr18:20966775-80255845)x3	LOC130062441, LOC130062442 +1275 more	Copy number gain	not provided	GLikely pathogenic
Select item 4796107	GRCh38/hg38 18q21.33-23(chr18:62873887-80255845)x1	LOC132090517, LOC132090518 +380 more	Copy number loss	not provided	GLikely pathogenic
Select item 4780013	NM_002640.4(SERPINB8):c.720+16_720+18del	SERPINB8	Deletion (intron variant)	not provided	GLikely benign
Select item 4776843	NM_002640.4(SERPINB8):c.168+9G>T	SERPINB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4762411	NM_002640.4(SERPINB8):c.599A>C (p.Glu200Ala)	SERPINB8 (E18A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4742016	NM_002640.4(SERPINB8):c.926C>G (p.Pro309Arg)	SERPINB8 (P127R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 4732824	NM_002640.4(SERPINB8):c.606G>A (p.Lys202=)	SERPINB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 4698502	NM_002640.4(SERPINB8):c.571A>T (p.Lys191Ter)	SERPINB8 (K191* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 4682956	GRCh37/hg19 18q21.33-22.1(chr18:60643748-64474178)x3	BCL2, CDH19 +15 more	Copy number gain	not provided	GUncertain significance
Select item 4682943	GRCh37/hg19 18q21.33-22.1(chr18:61460244-62040101)x3	HMSD, SERPINB10 +3 more	Copy number gain	not provided	GUncertain significance
Select item 4682938	GRCh37/hg19 18q21.33-22.1(chr18:60440410-64199966)x1	BCL2, CDH19 +15 more	Copy number loss	not provided	GUncertain significance
Select item 4682936	GRCh37/hg19 18q21.2-22.2(chr18:52640210-68070259)x4	SERPINB4, SERPINB5 +52 more	Copy number gain	not provided	GPathogenic
Select item 4682934	GRCh37/hg19 18q21.2-23(chr18:53564430-74587425)x1	ALPK2, ATP8B1 +67 more	Copy number loss	not provided	GPathogenic
Select item 4582614	NM_002640.4(SERPINB8):c.346C>A (p.Leu116Met)	SERPINB8 (L116M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 4582613	NM_002640.4(SERPINB8):c.430A>G (p.Ile144Val)	SERPINB8 (I144V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 4582612	NM_002640.4(SERPINB8):c.461A>G (p.Asp154Gly)	SERPINB8 (D154G)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 4582611	NM_002640.4(SERPINB8):c.242G>A (p.Gly81Asp)	SERPINB8 (G81D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 4432476	NM_002640.4(SERPINB8):c.568-35A>T	SERPINB8	Single nucleotide variant (intron variant)	Not Specified
Select item 4432475	NM_002640.4(SERPINB8):c.428A>G (p.Lys143Arg)	SERPINB8 (K143R)	Single nucleotide variant (missense variant +3 more)	Not Specified
Select item 4432474	NM_002640.4(SERPINB8):c.168+103G>T	SERPINB8	Single nucleotide variant (intron variant)	Not Specified
Select item 4432473	NM_002640.4(SERPINB8):c.-11+247C>T	LOC130062688, SERPINB8	Single nucleotide variant (intron variant)	Not Specified
Select item 4432472	NM_002640.4(SERPINB8):c.-11+1G>C	SERPINB8	Single nucleotide variant (5 prime UTR variant +1 more)	Not Specified
Select item 4279397	GRCh37/hg19 18q21.33-22.1(chr18:60802235-61648719)x3	BCL2, HMSD +12 more	Copy number gain	not specified	GUncertain significance
Select item 4279297	GRCh37/hg19 18q21.32-23(chr18:57452202-78014123)x1	ADNP2, ATP9B +60 more	Copy number loss	not specified	GPathogenic
Select item 4162917	NM_002640.4(SERPINB8):c.718G>A (p.Val240Met)	SERPINB8 (V240M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4162916	NM_002640.4(SERPINB8):c.397A>C (p.Asn133His)	SERPINB8 (N133H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 4162915	NM_002640.4(SERPINB8):c.661G>A (p.Val221Met)	SERPINB8 (V221M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4075922	GRCh37/hg19 18q21.33-22.1(chr18:61388177-62025124)x1	HMSD, SERPINB10 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3952673	NM_002640.4(SERPINB8):c.742G>A (p.Glu248Lys)	SERPINB8 (E248K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3952671	NM_002640.4(SERPINB8):c.82G>A (p.Val28Ile)	SERPINB8 (V28I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3952670	NM_002640.4(SERPINB8):c.433T>C (p.Ser145Pro)	SERPINB8 (S145P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3952669	NM_002640.4(SERPINB8):c.724G>A (p.Glu242Lys)	SERPINB8 (E242K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3794491	NM_002640.4(SERPINB8):c.89T>A (p.Phe30Tyr)	SERPINB8 (F30Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3794490	NM_002640.4(SERPINB8):c.534G>C (p.Lys178Asn)	SERPINB8 (K178N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3780595	NM_002640.4(SERPINB8):c.820G>T (p.Glu274Ter)	SERPINB8 (E274* +3 more)	Single nucleotide variant (nonsense +3 more)	Peeling skin syndrome 5	GLikely pathogenic
Select item 3682493	NM_002640.4(SERPINB8):c.54A>T (p.Ile18=)	SERPINB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3619878	NM_002640.4(SERPINB8):c.1043G>A (p.Cys348Tyr)	SERPINB8 (C166Y +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3607413	NM_002640.4(SERPINB8):c.424+14A>G	SERPINB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3603348	NM_002640.4(SERPINB8):c.721-16G>A	SERPINB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3440047	NM_002640.4(SERPINB8):c.520C>A (p.Gln174Lys)	SERPINB8 (Q174K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3440046	NM_002640.4(SERPINB8):c.631G>A (p.Val211Ile)	SERPINB8 (V211I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3440045	NM_002640.4(SERPINB8):c.1016G>A (p.Arg339Gln)	SERPINB8 (R157Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3440044	NM_002640.4(SERPINB8):c.133G>A (p.Gly45Arg)	SERPINB8 (G45R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3440043	NM_002640.4(SERPINB8):c.335A>G (p.Tyr112Cys)	SERPINB8 (Y112C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3440041	NM_002640.4(SERPINB8):c.274C>G (p.Leu92Val)	SERPINB8 (L92V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3392183	GRCh37/hg19 18q21.33-22.1(chr18:60802235-61642539)x3	BCL2, HMSD +12 more	Copy number gain	not provided	GUncertain significance
Select item 3391862	GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3	ACAA2, ADNP2 +195 more	Copy number gain	not provided	GPathogenic
Select item 3391825	GRCh37/hg19 18q21.31-23(chr18:56102873-74360560)x3	ALPK2, BCL2 +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 3350466	NM_002640.4(SERPINB8):c.623C>T (p.Ala208Val)	SERPINB8 (A208V +2 more)	Single nucleotide variant (missense variant +1 more)	SERPINB8-related disorder	GLikely benign
Select item 3160452	NM_002640.4(SERPINB8):c.935A>G (p.Lys312Arg)	SERPINB8 (K132R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3160451	NM_002640.4(SERPINB8):c.868G>C (p.Asp290His)	SERPINB8 (D110H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3160450	NM_002640.4(SERPINB8):c.851G>T (p.Arg284Leu)	SERPINB8 (R102L +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3160449	NM_002640.4(SERPINB8):c.809G>C (p.Arg270Thr)	SERPINB8 (R88T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160448	NM_002640.4(SERPINB8):c.790G>T (p.Val264Phe)	SERPINB8 (V84F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160446	NM_002640.4(SERPINB8):c.547A>G (p.Met183Val)	SERPINB8 (M183V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3160445	NM_002640.4(SERPINB8):c.130A>G (p.Met44Val)	SERPINB8 (M44V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160444	NM_002640.4(SERPINB8):c.1022G>T (p.Ser341Ile)	SERPINB8 (S159I +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	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	PHLPP1, PIGN +90 more	Copy number loss	not specified	GPathogenic
Select item 3062371	GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3	CD226, CDH19 +30 more	Copy number gain	not specified	GLikely pathogenic
Select item 3047665	NM_002640.4(SERPINB8):c.708G>A (p.Thr236=)	SERPINB8	Single nucleotide variant (synonymous variant +1 more)	SERPINB8-related disorder	GLikely benign
Select item 3046352	NM_002640.4(SERPINB8):c.564C>T (p.Asn188=)	SERPINB8	Single nucleotide variant (synonymous variant +2 more)	SERPINB8-related disorder	GLikely benign
Select item 2916309	NM_002640.4(SERPINB8):c.1088A>G (p.Asn363Ser)	SERPINB8 (N181S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 2906963	NM_002640.4(SERPINB8):c.1035A>C (p.Pro345=)	SERPINB8	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2864642	NM_002640.4(SERPINB8):c.561C>G (p.Thr187=)	SERPINB8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2726873	NM_002640.4(SERPINB8):c.86T>C (p.Phe29Ser)	SERPINB8 (F29S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 2622428	NM_002640.4(SERPINB8):c.613A>G (p.Met205Val)	SERPINB8 (M25V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2585175	NM_002640.4(SERPINB8):c.270del (p.Asn90fs)	SERPINB8 (N90fs)	Deletion (frameshift variant +2 more)	Peeling skin syndrome 5	GLikely pathogenic
Select item 2551361	NM_002640.4(SERPINB8):c.362T>G (p.Phe121Cys)	SERPINB8 (F121C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494412	NM_002640.4(SERPINB8):c.625G>C (p.Asp209His)	SERPINB8 (D27H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483657	NM_002640.4(SERPINB8):c.35C>G (p.Ala12Gly)	SERPINB8 (A12G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482531	NM_002640.4(SERPINB8):c.1093A>G (p.Ile365Val)	SERPINB8 (I185V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2454888	NM_002640.4(SERPINB8):c.796G>A (p.Val266Ile)	SERPINB8 (V266I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365538	NM_002640.4(SERPINB8):c.197T>C (p.Ile66Thr)	SERPINB8 (I66T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351064	NM_002640.4(SERPINB8):c.851G>A (p.Arg284Gln)	SERPINB8 (R102Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2343092	NM_002640.4(SERPINB8):c.659A>G (p.Tyr220Cys)	SERPINB8 (Y220C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333197	NM_002640.4(SERPINB8):c.1015C>T (p.Arg339Trp)	SERPINB8 (R159W +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2321817	NM_002640.4(SERPINB8):c.685A>T (p.Ile229Phe)	SERPINB8 (I47F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293132	NM_002640.4(SERPINB8):c.918G>T (p.Lys306Asn)	SERPINB8 (K124N +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2285243	NM_002640.4(SERPINB8):c.866T>C (p.Ile289Thr)	SERPINB8 (I107T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2283304	NM_002640.4(SERPINB8):c.973G>A (p.Gly325Ser)	SERPINB8 (G145S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2272340	NM_002640.4(SERPINB8):c.973G>T (p.Gly325Cys)	SERPINB8 (G143C +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2269515	NM_002640.4(SERPINB8):c.766T>G (p.Ser256Ala)	SERPINB8 (S256A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261027	NM_002640.4(SERPINB8):c.695C>G (p.Pro232Arg)	SERPINB8 (P50R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240845	NM_002640.4(SERPINB8):c.1078C>T (p.His360Tyr)	SERPINB8 (H180Y +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2239783	NM_002640.4(SERPINB8):c.288G>C (p.Lys96Asn)	SERPINB8 (K96N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230302	NM_002640.4(SERPINB8):c.535T>C (p.Tyr179His)	SERPINB8 (Y179H)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2223443	NM_002640.4(SERPINB8):c.839A>G (p.Glu280Gly)	SERPINB8 (E280G +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2222288	NM_002640.4(SERPINB8):c.1109G>A (p.Arg370Lys)	SERPINB8 (R188K +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2167824	NM_002640.4(SERPINB8):c.355T>A (p.Leu119Met)	SERPINB8 (L119M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2152859	NM_002640.4(SERPINB8):c.1017G>A (p.Arg339=)	SERPINB8	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2152790	NM_002640.4(SERPINB8):c.988G>A (p.Ala330Thr)	SERPINB8 (A150T +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance

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