ClinVar for Gene (Select 8710) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317615	NM_003784.4(SERPINB7):c.710T>C (p.Met237Thr)	SERPINB7 (M220T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317614	NM_003784.4(SERPINB7):c.301G>A (p.Gly101Arg)	SERPINB7 (G101R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317612	NM_003784.4(SERPINB7):c.621G>A (p.Met207Ile)	SERPINB7 (M207I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317611	NM_003784.4(SERPINB7):c.424A>G (p.Ile142Val)	SERPINB7 (I125V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 3160437	NM_003784.4(SERPINB7):c.1058C>T (p.Thr353Met)	SERPINB7 (T336M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3049966	NM_003784.4(SERPINB7):c.54_55del (p.Glu18fs)	SERPINB7 (E18fs)	Microsatellite (frameshift variant)	SERPINB7-related disorder	GLikely pathogenic
Select item 3046405	NM_003784.4(SERPINB7):c.597+8G>A	SERPINB7	Single nucleotide variant (intron variant)	SERPINB7-related disorder	GLikely benign
Select item 3038662	NM_003784.4(SERPINB7):c.24T>C (p.Asn8=)	SERPINB7	Single nucleotide variant (synonymous variant)	SERPINB7-related disorder	GLikely benign
Select item 2957516	NM_003784.4(SERPINB7):c.1045C>T (p.Leu349Phe)	SERPINB7 (L332F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883354	NM_003784.4(SERPINB7):c.360A>G (p.Lys120=)	SERPINB7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865310	NM_003784.4(SERPINB7):c.744+9C>T	SERPINB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2760355	NM_003784.4(SERPINB7):c.132G>A (p.Leu44=)	SERPINB7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726253	NM_003784.4(SERPINB7):c.169-8G>C	SERPINB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 2648796	NM_003784.4(SERPINB7):c.108C>T (p.Phe36=)	SERPINB7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 2287996	NM_003784.4(SERPINB7):c.121C>G (p.Leu41Val)	SERPINB7 (L41V)	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 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 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 2186287	NM_003784.4(SERPINB7):c.220T>C (p.Ser74Pro)	SERPINB7 (S57P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 2069410	NM_003784.4(SERPINB7):c.418C>T (p.Arg140Cys)	SERPINB7 (R123C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2050954	NM_003784.4(SERPINB7):c.714C>T (p.Tyr238=)	SERPINB7	Single nucleotide variant (synonymous 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)	not provided	GBenign
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 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 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 1644280	NM_003784.4(SERPINB7):c.337-19A>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 1620068	NM_003784.4(SERPINB7):c.867A>G (p.Gln289=)	SERPINB7	Single nucleotide variant (synonymous 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 1601337	NM_003784.4(SERPINB7):c.803C>T (p.Thr268Ile)	SERPINB7 (T251I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1599095	NM_003784.4(SERPINB7):c.936G>T (p.Ser312=)	SERPINB7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1587684	NM_003784.4(SERPINB7):c.455-7dup	SERPINB7	Duplication (intron variant)	not provided	GBenign
Select item 1563098	NM_003784.4(SERPINB7):c.366C>T (p.Tyr122=)	SERPINB7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1381693	NM_003784.4(SERPINB7):c.1135T>C (p.Cys379Arg)	SERPINB7 (C362R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379009	NM_003784.4(SERPINB7):c.992A>C (p.Glu331Ala)	SERPINB7 (E331A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333198	NM_003784.4(SERPINB7):c.650_653del (p.Ser217fs)	SERPINB7 (S200fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 1291717	NM_003784.4(SERPINB7):c.220-325G>A	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 1287590	NM_003784.4(SERPINB7):c.454+167G>T	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 1278215	NM_003784.4(SERPINB7):c.744+60G>C	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274273	NM_003784.4(SERPINB7):c.169-261G>A	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271911	NM_003784.4(SERPINB7):c.597+44C>T	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 1232822	NM_003784.4(SERPINB7):c.169-211A>G	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225792	NM_003784.4(SERPINB7):c.797G>A (p.Arg266Gln)	SERPINB7 (R249Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1225699	NM_003784.4(SERPINB7):c.597+78T>C	SERPINB7	Single nucleotide variant (intron variant)	not provided	GBenign
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	LMAN1, MALT1 +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 871598	NM_003784.4(SERPINB7):c.986T>G (p.Val329Gly)	SERPINB7 (V329G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 808403	NM_003784.4(SERPINB7):c.1136G>A (p.Cys379Tyr)	SERPINB7 (C362Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic

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