ClinVar for Gene (Select 8659) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366025	NM_003748.4(ALDH4A1):c.1637TCA[1] (p.Ile547del)	ALDH4A1 (I487del +2 more)	Microsatellite	not provided	GUncertain significance
Select item 3360664	NM_003748.4(ALDH4A1):c.1326del (p.Ile443fs)	ALDH4A1 (I383fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3339642	NM_003748.4(ALDH4A1):c.328C>T (p.Leu110=)	ALDH4A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3337793	NM_003748.4(ALDH4A1):c.194del (p.Pro65fs)	ALDH4A1 (P5fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3283659	NM_003748.4(ALDH4A1):c.878A>G (p.His293Arg)	ALDH4A1 (H233R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283650	NM_003748.4(ALDH4A1):c.1657C>G (p.Pro553Ala)	ALDH4A1 (P493A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247990	NC_000001.10:g.(?_19228936)_(19578003_?)dup	ALDH4A1, EMC1 +2 more	Duplication	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3109729	NM_003748.4(ALDH4A1):c.484G>A (p.Ala162Thr)	ALDH4A1 (A102T +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2 +1 more	GUncertain significance
Select item 3109713	NM_003748.4(ALDH4A1):c.421G>T (p.Ala141Ser)	ALDH4A1 (A81S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109694	NM_003748.4(ALDH4A1):c.323C>A (p.Ala108Asp)	ALDH4A1 (A108D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109661	NM_003748.4(ALDH4A1):c.1468G>T (p.Val490Leu)	ALDH4A1 (V439L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109643	NM_003748.4(ALDH4A1):c.109G>A (p.Val37Ile)	ALDH4A1 (V37I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 3053996	NM_003748.4(ALDH4A1):c.679-7C>T	ALDH4A1	Single nucleotide variant (intron variant)	ALDH4A1-related disorder	GLikely benign
Select item 3053449	NM_003748.4(ALDH4A1):c.87C>T (p.Ser29=)	ALDH4A1	Single nucleotide variant (5 prime UTR variant +1 more)	ALDH4A1-related disorder	GLikely benign
Select item 3052513	NM_003748.4(ALDH4A1):c.*10G>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	ALDH4A1-related disorder	GLikely benign
Select item 3047006	NM_003748.4(ALDH4A1):c.453+10T>G	ALDH4A1	Single nucleotide variant (intron variant)	ALDH4A1-related disorder	GLikely benign
Select item 3036753	NM_003748.4(ALDH4A1):c.453+10_453+13del	ALDH4A1	Deletion (intron variant)	ALDH4A1-related disorder	GLikely benign
Select item 3031069	NM_003748.4(ALDH4A1):c.1488G>A (p.Val496=)	ALDH4A1	Single nucleotide variant (synonymous variant)	ALDH4A1-related disorder	GLikely benign
Select item 3011359	NM_003748.4(ALDH4A1):c.596G>C (p.Gly199Ala)	ALDH4A1 (G199A +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 3010284	NM_003748.4(ALDH4A1):c.903C>T (p.Asn301=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2994571	NM_003748.4(ALDH4A1):c.1460+16G>C	ALDH4A1, LOC120893116	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2916705	NM_003748.4(ALDH4A1):c.1219G>T (p.Ala407Ser)	ALDH4A1 (A347S +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 2909680	NM_003748.4(ALDH4A1):c.561C>T (p.Ser187=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2908535	NM_003748.4(ALDH4A1):c.1551G>A (p.Gln517=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2903964	NM_003748.4(ALDH4A1):c.1368C>T (p.Tyr456=)	ALDH4A1, LOC120893116	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2897290	NM_003748.4(ALDH4A1):c.604-18C>T	ALDH4A1, MIR4695	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 2893564	NM_003748.4(ALDH4A1):c.105G>A (p.Glu35=)	ALDH4A1	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 2892028	NM_003748.4(ALDH4A1):c.828A>T (p.Ser276=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2878184	NM_003748.4(ALDH4A1):c.1A>G (p.Met1Val)	ALDH4A1, LOC129929550 (M1V)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 2797725	NM_003748.4(ALDH4A1):c.1674C>T (p.Ser558=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2758233	NM_003748.4(ALDH4A1):c.1563G>C (p.Gly521=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2755149	NM_003748.4(ALDH4A1):c.1641C>T (p.Ile547=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2741010	NM_003748.4(ALDH4A1):c.453+16G>C	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2712669	NM_003748.4(ALDH4A1):c.1236C>A (p.Ser412Arg)	ALDH4A1 (S412R +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638408	NM_003748.4(ALDH4A1):c.12G>T (p.Pro4=)	ALDH4A1, LOC129929550	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638407	NM_003748.4(ALDH4A1):c.948C>T (p.Gly316=)	ALDH4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627894	NM_003748.4(ALDH4A1):c.240C>G (p.Tyr80Ter)	ALDH4A1 (Y20* +1 more)	Single nucleotide variant (nonsense)	Hyperprolinemia type 2	GLikely pathogenic
Select item 2627268	NM_003748.4(ALDH4A1):c.1567del (p.Ala523fs)	ALDH4A1 (A463fs +2 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2610458	NM_003748.4(ALDH4A1):c.392C>T (p.Ala131Val)	ALDH4A1 (A131V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582852	NM_003748.4(ALDH4A1):c.1347C>T (p.Phe449=)	ALDH4A1, LOC120893116	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2581184	NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)	ALDH4A1 (G442D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2549799	NM_003748.4(ALDH4A1):c.317T>C (p.Ile106Thr)	ALDH4A1 (I46T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538514	NM_003748.4(ALDH4A1):c.1156A>C (p.Thr386Pro)	ALDH4A1 (T386P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523703	NM_003748.4(ALDH4A1):c.25C>T (p.Arg9Cys)	ALDH4A1, LOC129929550 (R9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480469	NM_003748.4(ALDH4A1):c.1390A>G (p.Lys464Glu)	ALDH4A1, LOC120893116 (K464E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478221	NM_003748.4(ALDH4A1):c.1121G>A (p.Arg374Gln)	ALDH4A1 (R314Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458958	NM_003748.4(ALDH4A1):c.224C>G (p.Thr75Arg)	ALDH4A1 (T75R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2424756	NC_000001.10:g.(?_19199339)_(19201095_?)del	ALDH4A1	Deletion	Hyperprolinemia type 2	GPathogenic
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2417427	NM_003748.4(ALDH4A1):c.1137+13G>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2396990	NM_003748.4(ALDH4A1):c.1012C>T (p.Arg338Cys)	ALDH4A1 (R338C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355048	NM_003748.4(ALDH4A1):c.610G>A (p.Val204Met)	ALDH4A1 (V144M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325013	NM_003748.4(ALDH4A1):c.134C>T (p.Pro45Leu)	ALDH4A1 (P45L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2285132	NM_003748.4(ALDH4A1):c.97G>A (p.Ala33Thr)	ALDH4A1 (A33T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2268275	NM_003748.4(ALDH4A1):c.1678G>T (p.Ala560Ser)	ALDH4A1 (A560S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2250568	NM_003748.4(ALDH4A1):c.44G>A (p.Arg15His)	ALDH4A1, LOC129929550 (R15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236871	NM_003748.4(ALDH4A1):c.1222C>T (p.Arg408Cys)	ALDH4A1 (R348C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219386	NM_003748.4(ALDH4A1):c.491C>T (p.Ala164Val)	ALDH4A1 (A104V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209339	NM_003748.4(ALDH4A1):c.227C>T (p.Ser76Leu)	ALDH4A1 (S16L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201073	NM_003748.4(ALDH4A1):c.1379_1380delinsGC (p.Asp460Gly)	ALDH4A1, LOC120893116 (D460G +2 more)	Indel (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2194695	NM_003748.4(ALDH4A1):c.1339-12C>T	ALDH4A1, LOC120893116	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2194171	NM_003748.4(ALDH4A1):c.645C>T (p.Ile215=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2 +1 more	GLikely benign
Select item 2193419	NM_003748.4(ALDH4A1):c.88C>T (p.Leu30=)	ALDH4A1	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 2191176	NM_003748.4(ALDH4A1):c.1464C>T (p.Asp488=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2184539	NM_003748.4(ALDH4A1):c.1503C>T (p.Ala501=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2182569	NM_003748.4(ALDH4A1):c.1618C>T (p.Arg540Cys)	ALDH4A1 (R480C +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2180540	NM_003748.4(ALDH4A1):c.414G>A (p.Pro138=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GBenign
Select item 2172146	NM_003748.4(ALDH4A1):c.712G>A (p.Ala238Thr)	ALDH4A1 (A238T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2161516	NM_003748.4(ALDH4A1):c.454-17G>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2160205	NM_003748.4(ALDH4A1):c.1048G>T (p.Ala350Ser)	ALDH4A1 (A350S +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2154008	NM_003748.4(ALDH4A1):c.1281C>T (p.Tyr427=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 2150108	NM_003748.4(ALDH4A1):c.353T>C (p.Leu118Pro)	ALDH4A1 (L58P +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2147657	NM_003748.4(ALDH4A1):c.123G>A (p.Thr41=)	ALDH4A1	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 2140045	NM_003748.4(ALDH4A1):c.479T>C (p.Ile160Thr)	ALDH4A1 (I100T +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2138817	NM_003748.4(ALDH4A1):c.684C>T (p.Asn228=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2110375	NM_003748.4(ALDH4A1):c.514T>C (p.Phe172Leu)	ALDH4A1 (F172L +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2099481	NM_003748.4(ALDH4A1):c.156+6G>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2090869	NM_003748.4(ALDH4A1):c.1265A>G (p.Asp422Gly)	ALDH4A1 (D362G +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 2089034	NM_003748.4(ALDH4A1):c.615G>C (p.Ala205=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2082273	NM_003748.4(ALDH4A1):c.1338+19C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2079565	NM_003748.4(ALDH4A1):c.1134C>T (p.Gly378=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2051174	NM_003748.4(ALDH4A1):c.1547G>A (p.Gly516Asp)	ALDH4A1 (G516D +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2006046	NM_003748.4(ALDH4A1):c.239A>G (p.Tyr80Cys)	ALDH4A1 (Y80C +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1985618	NM_003748.4(ALDH4A1):c.940+16C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1980634	NM_003748.4(ALDH4A1):c.1299C>T (p.Ile433=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 1974330	NM_003748.4(ALDH4A1):c.1239C>T (p.Leu413=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 1959256	NM_003748.4(ALDH4A1):c.1005G>T (p.Gly335=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1945790	NM_003748.4(ALDH4A1):c.43C>T (p.Arg15Cys)	ALDH4A1, LOC129929550 (R15C)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1944795	NM_003748.4(ALDH4A1):c.1085C>A (p.Pro362Gln)	ALDH4A1 (P362Q +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1924775	NM_003748.4(ALDH4A1):c.1479C>T (p.Ala493=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1899844	NM_003748.4(ALDH4A1):c.42C>G (p.Ser14=)	ALDH4A1, LOC129929550	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1898869	NM_003748.4(ALDH4A1):c.1602C>T (p.Gly534=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1809608	NM_003748.4(ALDH4A1):c.363_370dup (p.Arg124fs)	ALDH4A1 (R124fs +1 more)	Duplication (frameshift variant)	Hyperprolinemia type 2	GLikely pathogenic

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