List of variants reported as uncertain significance for Deficiency of pyrroline-5-carboxylate reductase by Illumina Clinical Services Laboratory,Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 75

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HGVS	dbSNP
NM_003748.4(ALDH4A1):c.*1040C>T
NM_003748.4(ALDH4A1):c.*1041G>A
NM_003748.4(ALDH4A1):c.*1152G>T	rs886045702
NM_003748.4(ALDH4A1):c.*1173C>T	rs115664776
NM_003748.4(ALDH4A1):c.*1182G>C
NM_003748.4(ALDH4A1):c.*1197C>G	rs7419135
NM_003748.4(ALDH4A1):c.*1199A>C	rs886045701
NM_003748.4(ALDH4A1):c.*122T>C	rs2230712
NM_003748.4(ALDH4A1):c.*189G>A	rs11484737
NM_003748.4(ALDH4A1):c.*19C>T
NM_003748.4(ALDH4A1):c.*210C>A	rs886045705
NM_003748.4(ALDH4A1):c.*223G>A	rs553318512
NM_003748.4(ALDH4A1):c.*272C>T	rs41273171
NM_003748.4(ALDH4A1):c.*367C>T
NM_003748.4(ALDH4A1):c.*464G>A	rs536186688
NM_003748.4(ALDH4A1):c.*646G>A	rs567528405
NM_003748.4(ALDH4A1):c.*690G>A	rs886045704
NM_003748.4(ALDH4A1):c.*711C>G
NM_003748.4(ALDH4A1):c.*719C>T	rs778905588
NM_003748.4(ALDH4A1):c.*776C>T
NM_003748.4(ALDH4A1):c.*900G>C
NM_003748.4(ALDH4A1):c.*944C>T	rs886045703
NM_003748.4(ALDH4A1):c.*9C>T	rs138534161
NM_003748.4(ALDH4A1):c.-24G>A	rs886045707
NM_003748.4(ALDH4A1):c.-26G>T	rs536547354
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=)	rs148778436
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg)	rs145243354
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser)	rs763793413
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=)	rs41310410
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg)	rs41306567
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=)	rs147471420
NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp)
NM_003748.4(ALDH4A1):c.1185+10G>A
NM_003748.4(ALDH4A1):c.1186-11G>A
NM_003748.4(ALDH4A1):c.1195C>T (p.Arg399Cys)
NM_003748.4(ALDH4A1):c.1196G>A (p.Arg399His)
NM_003748.4(ALDH4A1):c.1212G>A (p.Leu404=)
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=)	rs111291014
NM_003748.4(ALDH4A1):c.1252G>C (p.Gly418Arg)	rs148586081
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)	rs149414160
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=)	rs147154947
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile)	rs199828375
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)	rs146222625
NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn)	rs377270740
NM_003748.4(ALDH4A1):c.1460+15C>T
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
NM_003748.4(ALDH4A1):c.157-14G>A
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_003748.4(ALDH4A1):c.1580-5C>T
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn)	rs61757683
NM_003748.4(ALDH4A1):c.1624A>G (p.Thr542Ala)
NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=)
NM_003748.4(ALDH4A1):c.1678G>A (p.Ala560Thr)
NM_003748.4(ALDH4A1):c.1681T>A (p.Tyr561Asn)	rs528211463
NM_003748.4(ALDH4A1):c.198C>T (p.Cys66=)
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=)	rs145686117
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)	rs76762510
NM_003748.4(ALDH4A1):c.250-6T>A
NM_003748.4(ALDH4A1):c.298-14C>T
NM_003748.4(ALDH4A1):c.362T>C (p.Ile121Thr)
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu)	rs147600006
NM_003748.4(ALDH4A1):c.381C>G (p.Ile127Met)
NM_003748.4(ALDH4A1):c.397G>T (p.Asp133Tyr)
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)	rs139640415
NM_003748.4(ALDH4A1):c.421G>A (p.Ala141Thr)	rs377259750
NM_003748.4(ALDH4A1):c.446T>A (p.Val149Glu)	rs886045706
NM_003748.4(ALDH4A1):c.487G>A (p.Ala163Thr)	rs201780333
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro)	rs369957092
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=)	rs139340058
NM_003748.4(ALDH4A1):c.678+3G>A	rs138788183
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu)
NM_003748.4(ALDH4A1):c.800C>A (p.Pro267His)	rs141843191
NM_003748.4(ALDH4A1):c.866+1G>A	rs78532707
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=)
NM_003748.4(ALDH4A1):c.974G>A (p.Arg325His)

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