C2931835[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294333	NM_003748.4(ALDH4A1):c.*1275A>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GBenign
Select item 294334	NM_003748.4(ALDH4A1):c.*1239G>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GBenign
Select item 294335	NM_003748.4(ALDH4A1):c.*1199A>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294336	NM_003748.4(ALDH4A1):c.*1198A>G	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GBenign
Select item 294337	NM_003748.4(ALDH4A1):c.*1197C>G	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 874208	NM_003748.4(ALDH4A1):c.*1182G>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294338	NM_003748.4(ALDH4A1):c.*1173C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294339	NM_003748.4(ALDH4A1):c.*1152G>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 875131	NM_003748.4(ALDH4A1):c.*1041G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 875132	NM_003748.4(ALDH4A1):c.*1040C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294340	NM_003748.4(ALDH4A1):c.*944C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294341	NM_003748.4(ALDH4A1):c.*925C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294342	NM_003748.4(ALDH4A1):c.*921G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294343	NM_003748.4(ALDH4A1):c.*903C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 876092	NM_003748.4(ALDH4A1):c.*900G>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 876093	NM_003748.4(ALDH4A1):c.*776C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294344	NM_003748.4(ALDH4A1):c.*763T>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294345	NM_003748.4(ALDH4A1):c.*719C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294346	NM_003748.4(ALDH4A1):c.*712C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 876094	NM_003748.4(ALDH4A1):c.*711C>G	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294347	NM_003748.4(ALDH4A1):c.*702C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294348	NM_003748.4(ALDH4A1):c.*690G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294350	NM_003748.4(ALDH4A1):c.*646G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294351	NM_003748.4(ALDH4A1):c.*502A>G	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294352	NM_003748.4(ALDH4A1):c.*464G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294353	NM_003748.4(ALDH4A1):c.*444T>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 877047	NM_003748.4(ALDH4A1):c.*367C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294354	NM_003748.4(ALDH4A1):c.*272C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294355	NM_003748.4(ALDH4A1):c.*223G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294356	NM_003748.4(ALDH4A1):c.*210C>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294357	NM_003748.4(ALDH4A1):c.*189G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294358	NM_003748.4(ALDH4A1):c.*122T>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294359	NM_003748.4(ALDH4A1):c.*118G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294360	NM_003748.4(ALDH4A1):c.*35C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GLikely benign
Select item 874262	NM_003748.4(ALDH4A1):c.*19C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294362	NM_003748.4(ALDH4A1):c.*9C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294363	NM_003748.4(ALDH4A1):c.1681T>A (p.Tyr561Asn)	ALDH4A1 (Y561N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 875189	NM_003748.4(ALDH4A1):c.1678G>A (p.Ala560Thr)	ALDH4A1 (A500T +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 875190	NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294364	NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu)	ALDH4A1 (P544L +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GBenign/Likely benign
Select item 875191	NM_003748.4(ALDH4A1):c.1624A>G (p.Thr542Ala)	ALDH4A1 (T542A +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 471329	NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn)	ALDH4A1 (T528N +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 875192	NM_003748.4(ALDH4A1):c.1580-5C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GUncertain significance
Select item 813795	NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)	ALDH4A1 (R473Q +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294365	NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GBenign
Select item 876152	NM_003748.4(ALDH4A1):c.1460+15C>T	ALDH4A1, LOC120893116	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 294366	NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala)	ALDH4A1, LOC120893116 (T473A +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GBenign
Select item 294367	NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile)	ALDH4A1, LOC120893116 (V470I +2 more)	Single nucleotide variant (missense variant)	ALDH4A1-related condition +1 more	GBenign
Select item 294368	NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn)	LOC120893116, ALDH4A1 (D461N +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294369	NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=)	ALDH4A1, LOC120893116	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GBenign
Select item 294370	NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)	ALDH4A1, LOC120893116	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 294371	NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile)	ALDH4A1, LOC120893116 (V457I +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294372	NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)	ALDH4A1 (C421R +1 more)	Single nucleotide variant (missense variant +1 more)	ALDH4A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 294373	NM_003748.4(ALDH4A1):c.1252G>C (p.Gly418Arg)	ALDH4A1 (G418R +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294374	NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 294375	NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2 +1 more	GBenign
Select item 294376	NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 702171	NM_003748.4(ALDH4A1):c.1218C>T (p.His406=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 874318	NM_003748.4(ALDH4A1):c.1212G>A (p.Leu404=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 874319	NM_003748.4(ALDH4A1):c.1196G>A (p.Arg399His)	ALDH4A1 (R339H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 874320	NM_003748.4(ALDH4A1):c.1195C>T (p.Arg399Cys)	ALDH4A1 (R339C +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 874321	NM_003748.4(ALDH4A1):c.1186-11G>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GUncertain significance
Select item 874322	NM_003748.4(ALDH4A1):c.1185+10G>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 294377	NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu)	ALDH4A1 (F388L +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GBenign/Likely benign
Select item 874323	NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp)	ALDH4A1 (R307W +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294378	NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 702767	NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg)	ALDH4A1 (G366R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 471326	NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GBenign/Likely benign
Select item 294379	NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 294380	NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser)	ALDH4A1 (W361S +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294381	NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg)	ALDH4A1 (H358R +1 more)	Single nucleotide variant (missense variant)	ALDH4A1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 294382	NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GBenign
Select item 876206	NM_003748.4(ALDH4A1):c.974G>A (p.Arg325His)	ALDH4A1 (R265H +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 876207	NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 438800	NM_003748.4(ALDH4A1):c.866+1G>A	ALDH4A1	Single nucleotide variant (splice donor variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 294383	NM_003748.4(ALDH4A1):c.800C>A (p.Pro267His)	ALDH4A1 (P267H +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 702099	NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GBenign/Likely benign
Select item 876208	NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu)	ALDH4A1 (R187L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 294384	NM_003748.4(ALDH4A1):c.678+3G>A	ALDH4A1	Single nucleotide variant (intron variant)	ALDH4A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 294385	NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 876209	NM_003748.4(ALDH4A1):c.603+14G>A	ALDH4A1, MIR4695	Single nucleotide variant (intron variant +1 more)	Hyperprolinemia type 2	GBenign/Likely benign
Select item 294386	NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met)	ALDH4A1 (T195M +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GBenign/Likely benign
Select item 294387	NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro)	ALDH4A1 (A164P +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 806075	NM_003748.4(ALDH4A1):c.487G>A (p.Ala163Thr)	ALDH4A1 (A163T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 294388	NM_003748.4(ALDH4A1):c.446T>A (p.Val149Glu)	ALDH4A1 (V149E +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294389	NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr)	ALDH4A1 (A145T +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GBenign/Likely benign
Select item 294390	NM_003748.4(ALDH4A1):c.421G>A (p.Ala141Thr)	ALDH4A1 (A141T +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294391	NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)	ALDH4A1 (P138L +1 more)	Single nucleotide variant (missense variant)	ALDH4A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 876343	NM_003748.4(ALDH4A1):c.397G>T (p.Asp133Tyr)	ALDH4A1 (D73Y +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 874376	NM_003748.4(ALDH4A1):c.381C>G (p.Ile127Met)	ALDH4A1 (I127M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 294392	NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu)	ALDH4A1 (D123E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874377	NM_003748.4(ALDH4A1):c.362T>C (p.Ile121Thr)	ALDH4A1 (I121T +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 874378	NM_003748.4(ALDH4A1):c.298-14C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 874379	NM_003748.4(ALDH4A1):c.250-6T>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GUncertain significance
Select item 697665	NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)	ALDH4A1 (V82M +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 697959	NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=)	ALDH4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874380	NM_003748.4(ALDH4A1):c.198C>T (p.Cys66=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GUncertain significance
Select item 875298	NM_003748.4(ALDH4A1):c.157-14G>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GUncertain significance
Select item 875299	NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)	ALDH4A1	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 294393	NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=)	ALDH4A1	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity

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