5271[geneid] - 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 254199	NM_002640.4(SERPINB8):c.2T>C (p.Met1Thr)	SERPINB8 (M1T)	Single nucleotide variant (missense variant +2 more)	Peeling skin syndrome 5	GPathogenic
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 778775	NM_002640.4(SERPINB8):c.81C>T (p.Asn27=)	SERPINB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 1262057	NM_002640.4(SERPINB8):c.203G>A (p.Arg68Gln)	SERPINB8 (R68Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1599386	NM_002640.4(SERPINB8):c.254T>G (p.Leu85Trp)	SERPINB8 (L85W)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 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 2061790	NM_002640.4(SERPINB8):c.304C>T (p.Pro102Ser)	SERPINB8 (P102S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1178309	NM_002640.4(SERPINB8):c.306+94C>T	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282685	NM_002640.4(SERPINB8):c.306+307A>T	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261171	NM_002640.4(SERPINB8):c.307-230C>T	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274369	NM_002640.4(SERPINB8):c.307-118G>A	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2146949	NM_002640.4(SERPINB8):c.390G>A (p.Lys130=)	SERPINB8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1951986	NM_002640.4(SERPINB8):c.424+6A>G	SERPINB8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1250123	NM_002640.4(SERPINB8):c.424+98A>G	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263303	NM_002640.4(SERPINB8):c.477G>A (p.Leu159=)	SERPINB8	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GBenign
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 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 2864642	NM_002640.4(SERPINB8):c.561C>G (p.Thr187=)	SERPINB8	Single nucleotide variant (synonymous variant +2 more)	not provided	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 1591231	NM_002640.4(SERPINB8):c.565G>A (p.Glu189Lys)	SERPINB8 (E189K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2060201	NM_002640.4(SERPINB8):c.567+7A>G	SERPINB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241636	NM_002640.4(SERPINB8):c.568-292G>A	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256825	NM_002640.4(SERPINB8):c.568-203dup	SERPINB8	Duplication (intron variant)	not provided	GBenign
Select item 1224087	NM_002640.4(SERPINB8):c.568-204_568-203dup	SERPINB8	Duplication (intron variant)	not provided	GBenign
Select item 1631966	NM_002640.4(SERPINB8):c.568-5G>A	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2056235	NM_002640.4(SERPINB8):c.624G>A (p.Ala208=)	SERPINB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2075683	NM_002640.4(SERPINB8):c.658T>C (p.Tyr220His)	SERPINB8 (Y220H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 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 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 2070207	NM_002640.4(SERPINB8):c.715G>A (p.Ala239Thr)	SERPINB8 (A57T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1249604	NM_002640.4(SERPINB8):c.720+95T>C	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275916	NM_002640.4(SERPINB8):c.720+240T>G	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262390	NM_002640.4(SERPINB8):c.721-538C>G	SERPINB8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 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 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 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 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 254200	NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter)	SERPINB8 (R284* +2 more)	Single nucleotide variant (nonsense +3 more)	Peeling skin syndrome 5 +1 more	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 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 2285243	NM_002640.4(SERPINB8):c.866T>C (p.Ile289Thr)	SERPINB8 (I107T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
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 1234066	NM_002640.4(SERPINB8):c.910A>G (p.Thr304Ala)	SERPINB8 (T122A +2 more)	Single nucleotide variant (missense variant +3 more)	Peeling skin syndrome 5 +1 more	GBenign
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 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 1268766	NM_002640.4(SERPINB8):c.942C>T (p.Ala314=)	SERPINB8	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 254198	NM_002640.4(SERPINB8):c.947del (p.Lys316fs)	SERPINB8 (K136fs +2 more)	Deletion (frameshift variant +3 more)	Peeling skin syndrome 5	GPathogenic

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