List of variants in gene ATR reported as uncertain significance for Seckel syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

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HGVS	dbSNP
NM_001184.4(ATR):c.*102C>T	rs0
NM_001184.4(ATR):c.*72T>G	rs750327573
NM_001184.4(ATR):c.1006C>T (p.Arg336Trp)	rs886058056
NM_001184.4(ATR):c.1318C>T (p.Pro440Ser)	rs535140939
NM_001184.4(ATR):c.1350-3T>C	rs587783323
NM_001184.4(ATR):c.1411G>C (p.Glu471Gln)	rs371350410
NM_001184.4(ATR):c.1439G>T (p.Ser480Ile)	rs0
NM_001184.4(ATR):c.152-9T>C	rs748613519
NM_001184.4(ATR):c.1620C>T (p.Tyr540=)	rs0
NM_001184.4(ATR):c.1764A>G (p.Glu588=)	rs0
NM_001184.4(ATR):c.1784C>T (p.Ser595Leu)	rs747451103
NM_001184.4(ATR):c.1883A>G (p.Tyr628Cys)	rs0
NM_001184.4(ATR):c.1885+7G>A	rs74282951
NM_001184.4(ATR):c.1903C>T (p.Arg635Ter)	rs1378333855
NM_001184.4(ATR):c.1904G>A (p.Arg635Gln)	rs0
NM_001184.4(ATR):c.190A>G (p.Thr64Ala)	rs35306038
NM_001184.4(ATR):c.2162T>C (p.Met721Thr)	rs0
NM_001184.4(ATR):c.2205C>T (p.His735=)	rs148955716
NM_001184.4(ATR):c.2226T>C (p.Cys742=)	rs147895945
NM_001184.4(ATR):c.225C>T (p.Ile75=)	rs886058059
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu)	rs77208665
NM_001184.4(ATR):c.2305C>A (p.Leu769Ile)	rs1489808838
NM_001184.4(ATR):c.2493A>G (p.Ile831Met)	rs0
NM_001184.4(ATR):c.2503T>C (p.Leu835=)	rs377134163
NM_001184.4(ATR):c.2532+4G>A	rs190596919
NM_001184.4(ATR):c.2532+8A>G	rs0
NM_001184.4(ATR):c.260G>T (p.Ser87Ile)	rs200407265
NM_001184.4(ATR):c.2634-1G>A	rs372271245
NM_001184.4(ATR):c.2653G>A (p.Val885Ile)	rs141606250
NM_001184.4(ATR):c.2678T>C (p.Leu893Ser)	rs0
NM_001184.4(ATR):c.2688G>A (p.Leu896=)	rs117926957
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro)	rs146202702
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu)	rs141783863
NM_001184.4(ATR):c.292+15T>G	rs886058058
NM_001184.4(ATR):c.2946C>T (p.Phe982=)	rs0
NM_001184.4(ATR):c.3069C>A (p.Val1023=)	rs0
NM_001184.4(ATR):c.3161A>G (p.His1054Arg)	rs0
NM_001184.4(ATR):c.3241C>T (p.Leu1081=)	rs139173669
NM_001184.4(ATR):c.324G>A (p.Leu108=)	rs0
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly)	rs149008479
NM_001184.4(ATR):c.3457A>G (p.Asn1153Asp)	rs0
NM_001184.4(ATR):c.3497A>C (p.His1166Pro)	rs201438783
NM_001184.4(ATR):c.3549A>G (p.Arg1183=)	rs0
NM_001184.4(ATR):c.3642T>C (p.His1214=)	rs139078985
NM_001184.4(ATR):c.3646A>G (p.Ile1216Val)	rs0
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile)	rs377689383
NM_001184.4(ATR):c.3820-4A>G	rs0
NM_001184.4(ATR):c.4153-15T>G	rs0
NM_001184.4(ATR):c.4306A>G (p.Asn1436Asp)	rs587783328
NM_001184.4(ATR):c.431T>G (p.Val144Gly)	rs749942139
NM_001184.4(ATR):c.4323A>G (p.Gln1441=)	rs56100509
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp)	rs148064542
NM_001184.4(ATR):c.4382+6T>C	rs758074436
NM_001184.4(ATR):c.4407C>T (p.Thr1469=)	rs201300027
NM_001184.4(ATR):c.4490A>G (p.Tyr1497Cys)	rs0
NM_001184.4(ATR):c.4576A>G (p.Ile1526Val)	rs34124242
NM_001184.4(ATR):c.4592A>G (p.His1531Arg)	rs0
NM_001184.4(ATR):c.4641+15C>T	rs200619976
NM_001184.4(ATR):c.4677C>T (p.Asp1559=)	rs112726878
NM_001184.4(ATR):c.489T>C (p.Asn163=)	rs886058057
NM_001184.4(ATR):c.5004T>C (p.Asn1668=)	rs0
NM_001184.4(ATR):c.5052T>C (p.His1684=)	rs150810277
NM_001184.4(ATR):c.5257A>G (p.Ile1753Val)	rs143806447
NM_001184.4(ATR):c.5286C>G (p.Asn1762Lys)	rs0
NM_001184.4(ATR):c.5349G>T (p.Gln1783His)	rs886058055
NM_001184.4(ATR):c.539G>A (p.Ser180Asn)	rs0
NM_001184.4(ATR):c.5572T>C (p.Cys1858Arg)	rs367898142
NM_001184.4(ATR):c.5642T>C (p.Leu1881Pro)	rs0
NM_001184.4(ATR):c.5732A>G (p.Asn1911Ser)	rs587783334
NM_001184.4(ATR):c.5739-14G>T	rs587783335
NM_001184.4(ATR):c.59+4G>A	rs758046042
NM_001184.4(ATR):c.5971C>A (p.Pro1991Thr)	rs0
NM_001184.4(ATR):c.6023G>A (p.Arg2008Gln)	rs0
NM_001184.4(ATR):c.6078+10T>C	rs762754313
NM_001184.4(ATR):c.6079-14G>A	rs886058053
NM_001184.4(ATR):c.6079-6T>A	rs0
NM_001184.4(ATR):c.6090G>A (p.Ala2030=)	rs201988169
NM_001184.4(ATR):c.6197G>A (p.Arg2066Gln)	rs886058052
NM_001184.4(ATR):c.6198G>C (p.Arg2066=)	rs0
NM_001184.4(ATR):c.6221+3G>A	rs200980335
NM_001184.4(ATR):c.6226C>G (p.Leu2076Val)	rs372864251
NM_001184.4(ATR):c.6259A>G (p.Met2087Val)	rs757353909
NM_001184.4(ATR):c.6595A>G (p.Asn2199Asp)	rs0
NM_001184.4(ATR):c.6675G>T (p.Leu2225Phe)	rs0
NM_001184.4(ATR):c.6896T>C (p.Met2299Thr)	rs145119827
NM_001184.4(ATR):c.6960G>A (p.Lys2320=)	rs752654793
NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu)	rs587783338
NM_001184.4(ATR):c.6G>T (p.Gly2=)	rs0
NM_001184.4(ATR):c.7041+4G>C	rs113544835
NM_001184.4(ATR):c.7041+8G>A	rs201106004
NM_001184.4(ATR):c.7349+2T>C	rs0
NM_001184.4(ATR):c.7399G>A (p.Val2467Ile)	rs0
NM_001184.4(ATR):c.7408A>G (p.Ile2470Val)	rs0
NM_001184.4(ATR):c.7471G>A (p.Val2491Ile)	rs556313656
NM_001184.4(ATR):c.7725G>A (p.Ala2575=)	rs587783340
NM_001184.4(ATR):c.7817G>A (p.Arg2606Gln)	rs0
NM_001184.4(ATR):c.7864T>C (p.Tyr2622His)	rs0

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