ClinVar for Gene (Select 5271) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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 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 (3 prime UTR variant +3 more)	not provided	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	GLikely benign
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 (5 prime UTR 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)	SERPINB8-related disorder +1 more	GBenign/Likely 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
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 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 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 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 2060201	NM_002640.4(SERPINB8):c.567+7A>G	SERPINB8	Single nucleotide variant (intron variant)	SERPINB8-related disorder +1 more	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 1951986	NM_002640.4(SERPINB8):c.424+6A>G	SERPINB8	Single nucleotide variant (intron 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 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	LINC01544, LINC01879 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 1631966	NM_002640.4(SERPINB8):c.568-5G>A	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599386	NM_002640.4(SERPINB8):c.254T>G (p.Leu85Trp)	SERPINB8 (L85W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
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 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	BCL2, HMSD +17 more	Deletion	not provided	GPathogenic
Select item 1282685	NM_002640.4(SERPINB8):c.306+307A>T	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 1274369	NM_002640.4(SERPINB8):c.307-118G>A	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268766	NM_002640.4(SERPINB8):c.942C>T (p.Ala314=)	SERPINB8	Single nucleotide variant (3 prime UTR variant +3 more)	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 1262390	NM_002640.4(SERPINB8):c.721-538C>G	SERPINB8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1262057	NM_002640.4(SERPINB8):c.203G>A (p.Arg68Gln)	SERPINB8 (R68Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Peeling skin syndrome 5 +1 more	GBenign
Select item 1261171	NM_002640.4(SERPINB8):c.307-230C>T	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 1250123	NM_002640.4(SERPINB8):c.424+98A>G	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249604	NM_002640.4(SERPINB8):c.720+95T>C	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241636	NM_002640.4(SERPINB8):c.568-292G>A	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234066	NM_002640.4(SERPINB8):c.910A>G (p.Thr304Ala)	SERPINB8 (T122A +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	GBenign
Select item 1224087	NM_002640.4(SERPINB8):c.568-204_568-203dup	SERPINB8	Duplication (intron variant)	not provided	GBenign
Select item 1220688	NM_002640.4(SERPINB8):c.1076A>G (p.His359Arg)	SERPINB8 (H177R +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	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 1178309	NM_002640.4(SERPINB8):c.306+94C>T	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176065	GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	RTTN, ALPK2 +80 more	Copy number loss	not provided	GPathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	LINC01415, LINC01879 +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 778775	NM_002640.4(SERPINB8):c.81C>T (p.Asn27=)	SERPINB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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

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