8710[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	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 150640	GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	ADNP2, ATP9B +320 more	Copy number loss	See cases	GPathogenic
Select item 3038662	NM_003784.4(SERPINB7):c.24T>C (p.Asn8=)	SERPINB7	Single nucleotide variant (synonymous variant)	SERPINB7-related condition	GLikely benign
Select item 3049966	NM_003784.4(SERPINB7):c.54_55del (p.Glu18fs)	SERPINB7 (E18fs)	Microsatellite (frameshift variant)	SERPINB7-related condition	GLikely pathogenic
Select item 2648796	NM_003784.4(SERPINB7):c.108C>T (p.Phe36=)	SERPINB7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287996	NM_003784.4(SERPINB7):c.121C>G (p.Leu41Val)	SERPINB7 (L41V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2760355	NM_003784.4(SERPINB7):c.132G>A (p.Leu44=)	SERPINB7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1323576	NM_003784.4(SERPINB7):c.157C>T (p.Gln53Ter)	SERPINB7 (Q53*)	Single nucleotide variant (nonsense)	Palmoplantar keratoderma, Nagashima type	GPathogenic
Select item 2182230	NM_003784.4(SERPINB7):c.168G>T (p.Lys56Asn)	SERPINB7 (K56N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274273	NM_003784.4(SERPINB7):c.169-261G>A	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232822	NM_003784.4(SERPINB7):c.169-211A>G	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2726253	NM_003784.4(SERPINB7):c.169-8G>C	SERPINB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2044929	NM_003784.4(SERPINB7):c.181A>G (p.Asn61Asp)	SERPINB7 (N61D)	Single nucleotide variant (missense variant +1 more)	SERPINB7-related condition +1 more	GBenign/Likely benign
Select item 3160438	NM_003784.4(SERPINB7):c.185C>G (p.Thr62Ser)	SERPINB7 (T62S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358783	NM_003784.4(SERPINB7):c.205T>C (p.Ser69Pro)	SERPINB7 (S69P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2849140	NM_003784.4(SERPINB7):c.213T>A (p.Asn71Lys)	SERPINB7 (N71K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 102447	NM_003784.4(SERPINB7):c.218_219delinsTAAACTTTACCT (p.Gln73fs)	SERPINB7 (Q73fs)	Indel (frameshift variant +1 more)	Palmoplantar keratoderma, Nagashima type	GPathogenic
Select item 1291717	NM_003784.4(SERPINB7):c.220-325G>A	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235353	NM_003784.4(SERPINB7):c.220-109A>T	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2186287	NM_003784.4(SERPINB7):c.220T>C (p.Ser74Pro)	SERPINB7 (S57P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3160439	NM_003784.4(SERPINB7):c.223G>A (p.Gly75Arg)	SERPINB7 (G75R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530188	NM_003784.4(SERPINB7):c.310G>C (p.Ala104Pro)	SERPINB7 (A87P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1644280	NM_003784.4(SERPINB7):c.337-19A>G	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2883354	NM_003784.4(SERPINB7):c.360A>G (p.Lys120=)	SERPINB7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563098	NM_003784.4(SERPINB7):c.366C>T (p.Tyr122=)	SERPINB7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2393005	NM_003784.4(SERPINB7):c.389A>T (p.Asp130Val)	SERPINB7 (D113V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307533	NM_003784.4(SERPINB7):c.416G>C (p.Arg139Thr)	SERPINB7 (R122T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069410	NM_003784.4(SERPINB7):c.418C>T (p.Arg140Cys)	SERPINB7 (R123C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1287590	NM_003784.4(SERPINB7):c.454+167G>T	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287753	NM_003784.4(SERPINB7):c.455-28A>G	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1633883	NM_003784.4(SERPINB7):c.455-17A>T	SERPINB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1587684	NM_003784.4(SERPINB7):c.455-7dup	SERPINB7	Duplication (intron variant)	not provided	GBenign
Select item 102448	NM_003784.4(SERPINB7):c.455-1G>A	SERPINB7	Single nucleotide variant (splice acceptor variant)	Palmoplantar keratoderma, Nagashima type	GPathogenic
Select item 157566	NM_003784.4(SERPINB7):c.522dup (p.Val175fs)	SERPINB7 (V175fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 3160441	NM_003784.4(SERPINB7):c.533A>G (p.Lys178Arg)	SERPINB7 (K161R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1932649	NM_003784.4(SERPINB7):c.563G>A (p.Ser188Asn)	SERPINB7 (S188N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2381843	NM_003784.4(SERPINB7):c.565G>A (p.Glu189Lys)	SERPINB7 (E189K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046405	NM_003784.4(SERPINB7):c.597+8G>A	SERPINB7	Single nucleotide variant (intron variant)	SERPINB7-related condition	GLikely benign
Select item 1271911	NM_003784.4(SERPINB7):c.597+44C>T	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225699	NM_003784.4(SERPINB7):c.597+78T>C	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281854	NM_003784.4(SERPINB7):c.598-15T>A	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2320499	NM_003784.4(SERPINB7):c.611C>G (p.Ala204Gly)	SERPINB7 (A187G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269513	NM_003784.4(SERPINB7):c.625C>A (p.His209Asn)	SERPINB7 (H192N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263402	NM_003784.4(SERPINB7):c.634C>G (p.Arg212Gly)	SERPINB7 (R195G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2071513	NM_003784.4(SERPINB7):c.634C>T (p.Arg212Trp)	SERPINB7 (R212W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2222538	NM_003784.4(SERPINB7):c.637A>G (p.Lys213Glu)	SERPINB7 (K213E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523754	NM_003784.4(SERPINB7):c.639G>T (p.Lys213Asn)	SERPINB7 (K196N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333198	NM_003784.4(SERPINB7):c.650_653del (p.Ser217fs)	SERPINB7 (S200fs +1 more)	Deletion (frameshift variant)	Palmoplantar keratoderma, Nagashima type +1 more	GPathogenic
Select item 2050954	NM_003784.4(SERPINB7):c.714C>T (p.Tyr238=)	SERPINB7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157238	NM_003784.4(SERPINB7):c.715G>A (p.Val239Ile)	SERPINB7 (V222I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865310	NM_003784.4(SERPINB7):c.744+9C>T	SERPINB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278215	NM_003784.4(SERPINB7):c.744+60G>C	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1619107	NM_003784.4(SERPINB7):c.745-19C>G	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 102446	NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter)	SERPINB7 (R266* +1 more)	Single nucleotide variant (nonsense)	SERPINB7-related condition +2 more	GPathogenic
Select item 1225792	NM_003784.4(SERPINB7):c.797G>A (p.Arg266Gln)	SERPINB7 (R249Q +1 more)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, Nagashima type +1 more	GBenign
Select item 1601337	NM_003784.4(SERPINB7):c.803C>T (p.Thr268Ile)	SERPINB7 (T251I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2169434	NM_003784.4(SERPINB7):c.833A>G (p.Gln278Arg)	SERPINB7 (Q261R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1620068	NM_003784.4(SERPINB7):c.867A>G (p.Gln289=)	SERPINB7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2151342	NM_003784.4(SERPINB7):c.877G>T (p.Ala293Ser)	SERPINB7 (A276S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258584	NM_003784.4(SERPINB7):c.931G>A (p.Ala311Thr)	SERPINB7 (A311T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1599095	NM_003784.4(SERPINB7):c.936G>T (p.Ser312=)	SERPINB7	Single nucleotide variant (synonymous variant)	SERPINB7-related condition +1 more	GBenign
Select item 2093351	NM_003784.4(SERPINB7):c.949T>C (p.Tyr317His)	SERPINB7 (Y300H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871598	NM_003784.4(SERPINB7):c.986T>G (p.Val329Gly)	SERPINB7 (V329G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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