List of variants reported as uncertain significance for Schimke immuno-osseous dysplasia

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Total variants: 98

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HGVS	dbSNP
NC_000002.12:g.(?_216416237)_(216416327_?)del
NC_000002.12:g.216412428T>C
NC_000002.12:g.216412444G>C
NC_000002.12:g.216412482C>G
NM_014140.3(SMARCAL1):c.*13G>T	rs760333596
NM_014140.3(SMARCAL1):c.-114G>A	rs561221026
NM_014140.3(SMARCAL1):c.-141G>A	rs542884297
NM_014140.3(SMARCAL1):c.-164G>A	rs767342189
NM_014140.3(SMARCAL1):c.-170C>T	rs886055614
NM_014140.3(SMARCAL1):c.-48C>A	rs576450027
NM_014140.3(SMARCAL1):c.-82T>C	rs886055615
NM_014140.3(SMARCAL1):c.1001G>A (p.Arg334Gln)	rs138575228
NM_014140.3(SMARCAL1):c.1030G>A (p.Glu344Lys)	rs370663120
NM_014140.3(SMARCAL1):c.1064C>T (p.Ala355Val)	rs772913825
NM_014140.3(SMARCAL1):c.1069T>A (p.Phe357Ile)	rs369180164
NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met)	rs139872089
NM_014140.3(SMARCAL1):c.1251G>A (p.Thr417=)	rs372331472
NM_014140.3(SMARCAL1):c.1297G>A (p.Val433Met)	rs374696042
NM_014140.3(SMARCAL1):c.1317T>G (p.Phe439Leu)	rs771757954
NM_014140.3(SMARCAL1):c.1375G>A (p.Asp459Asn)	rs1574456732
NM_014140.3(SMARCAL1):c.1407C>T (p.Ile469=)	rs750621192
NM_014140.3(SMARCAL1):c.1413C>T (p.Ile471=)	rs149599324
NM_014140.3(SMARCAL1):c.1414G>A (p.Ala472Thr)	rs571392819
NM_014140.3(SMARCAL1):c.1427G>A (p.Arg476Gln)	rs142164846
NM_014140.3(SMARCAL1):c.1453G>T (p.Val485Leu)	rs1574456834
NM_014140.3(SMARCAL1):c.1485+8G>A	rs886055617
NM_014140.3(SMARCAL1):c.1553G>A (p.Arg518His)	rs774075396
NM_014140.3(SMARCAL1):c.1594C>T (p.Leu532Phe)	rs968239393
NM_014140.3(SMARCAL1):c.1727T>C (p.Ile576Thr)	rs138819354
NM_014140.3(SMARCAL1):c.1762G>A (p.Ala588Thr)	rs769553029
NM_014140.3(SMARCAL1):c.1786G>A (p.Ala596Thr)	rs143100109
NM_014140.3(SMARCAL1):c.179A>C (p.Glu60Ala)	rs766086132
NM_014140.3(SMARCAL1):c.1851+5G>A	rs2066514
NM_014140.3(SMARCAL1):c.1993G>T (p.Ala665Ser)	rs768868466
NM_014140.3(SMARCAL1):c.2009A>G (p.Asn670Ser)	rs752621052
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile)	rs200644381
NM_014140.3(SMARCAL1):c.2141T>C (p.Ile714Thr)	rs372158077
NM_014140.3(SMARCAL1):c.2225C>T (p.Thr742Met)	rs2271336
NM_014140.3(SMARCAL1):c.2260C>T (p.Arg754Cys)	rs1226816517
NM_014140.3(SMARCAL1):c.2290C>T (p.Arg764Trp)	rs1480919035
NM_014140.3(SMARCAL1):c.2401T>G (p.Phe801Val)	rs200679534
NM_014140.3(SMARCAL1):c.2497G>A (p.Val833Met)	rs756015461
NM_014140.3(SMARCAL1):c.2528+15G>A	rs200879397
NM_014140.3(SMARCAL1):c.2600C>T (p.Thr867Ile)	rs752153044
NM_014140.3(SMARCAL1):c.2641A>C (p.Lys881Gln)	rs190386780
NM_014140.3(SMARCAL1):c.2658_2659delinsTT (p.Gln887Ter)	rs1559140275
NM_014140.3(SMARCAL1):c.2735C>T (p.Ser912Leu)	rs763670564
NM_014140.3(SMARCAL1):c.2765T>C (p.Met922Thr)	rs200431186
NM_014140.3(SMARCAL1):c.2768G>A (p.Gly923Glu)	rs1559140332
NM_014140.3(SMARCAL1):c.488C>A (p.Thr163Asn)	rs748188404
NM_014140.3(SMARCAL1):c.506A>G (p.Lys169Arg)	rs777999697
NM_014140.3(SMARCAL1):c.565A>G (p.Lys189Glu)	rs754147208
NM_014140.3(SMARCAL1):c.600G>A (p.Ser200=)	rs530505647
NM_014140.3(SMARCAL1):c.734G>A (p.Gly245Asp)	rs1574443795
NM_014140.3(SMARCAL1):c.735C>T (p.Gly245=)	rs149510554
NM_014140.3(SMARCAL1):c.76G>A (p.Glu26Lys)	rs886055616
NM_014140.3(SMARCAL1):c.776T>C (p.Ile259Thr)	rs750671325
NM_014140.3(SMARCAL1):c.812-15T>C	rs375588610
NM_014140.3(SMARCAL1):c.836T>C (p.Phe279Ser)	rs775057827
NM_014140.3(SMARCAL1):c.863-9C>G	rs188833040
NM_014140.3(SMARCAL1):c.922A>G (p.Ser308Gly)	rs1312214950
NM_014140.3(SMARCAL1):c.927C>T (p.Ser309=)	rs139949668
NM_014140.4(SMARCAL1):c.1031A>G (p.Glu344Gly)
NM_014140.4(SMARCAL1):c.1147+8G>A	rs759562755
NM_014140.4(SMARCAL1):c.1160G>A (p.Arg387His)
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu)
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His)
NM_014140.4(SMARCAL1):c.1552C>T (p.Arg518Cys)
NM_014140.4(SMARCAL1):c.1622C>A (p.Thr541Asn)
NM_014140.4(SMARCAL1):c.1642A>G (p.Ile548Val)
NM_014140.4(SMARCAL1):c.1699C>A (p.Pro567Thr)
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=)	rs145825654
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=)	rs752241342
NM_014140.4(SMARCAL1):c.2083A>C (p.Lys695Gln)
NM_014140.4(SMARCAL1):c.2243A>T (p.Lys748Met)
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val)
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=)
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=)
NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met)
NM_014140.4(SMARCAL1):c.236C>T (p.Ser79Leu)
NM_014140.4(SMARCAL1):c.2389G>A (p.Asp797Asn)
NM_014140.4(SMARCAL1):c.2425G>A (p.Gly809Arg)
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln)
NM_014140.4(SMARCAL1):c.364A>G (p.Ile122Val)
NM_014140.4(SMARCAL1):c.379G>C (p.Ala127Pro)
NM_014140.4(SMARCAL1):c.422A>G (p.Tyr141Cys)
NM_014140.4(SMARCAL1):c.532G>T (p.Ala178Ser)
NM_014140.4(SMARCAL1):c.549G>T (p.Gln183His)
NM_014140.4(SMARCAL1):c.677C>T (p.Ser226Leu)
NM_014140.4(SMARCAL1):c.67C>T (p.Arg23Cys)
NM_014140.4(SMARCAL1):c.693A>C (p.Gln231His)
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile)
NM_014140.4(SMARCAL1):c.748G>C (p.Val250Leu)
NM_014140.4(SMARCAL1):c.767C>T (p.Ala256Val)
NM_014140.4(SMARCAL1):c.863-4G>T
NM_014140.4(SMARCAL1):c.866A>C (p.Lys289Thr)
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=)
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)

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