ALDH3A2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 150743	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58110	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 58113	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	LOC130060442, LOC130060443 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	MYO15A, NT5M +252 more	Copy number gain	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 152261	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 148912	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	AKAP10, ALDH3A1 +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	LOC130060419, LOC130060420 +248 more	Copy number gain	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 146755	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	LOC130060406, LOC130060407 +248 more	Copy number gain	See cases	GPathogenic
Select item 147821	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 147756	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58127	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 60437	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	AKAP10, ALDH3A1 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	AKAP10, ALDH3A1 +250 more	Copy number gain	See cases	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	DRC3, LOC130060351 +248 more	Duplication	Autism	GPathogenic
Select item 60455	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 58132	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 58131	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	AKAP10, ALDH3A1 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	AKAP10, ALDH3A1 +244 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 150319	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 149203	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 145065	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	LOC130060411, LOC130060412 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	AKAP10, ALDH3A1 +245 more	Copy number loss	See cases	GPathogenic
Select item 60456	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	SLC5A10, SMCR2 +242 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 57034	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 146753	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 58134	GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	AKAP10, ALDH3A1 +241 more	Copy number gain	See cases	GPathogenic
Select item 150379	GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	AKAP10, ALDH3A1 +226 more	Copy number loss	See cases	GPathogenic
Select item 152568	GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	AKAP10, ALDH3A1 +220 more	Copy number loss	See cases	GPathogenic
Select item 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 60134	GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3	AKAP10, ALDH3A1 +91 more	Copy number gain	See cases	GUncertain significance
Select item 31103	NC_000017.11:g.(?_18856298)_(20402192_?)del	AKAP10, ALDH3A1 +87 more	Deletion	Meckel syndrome, type 9	GPathogenic
Select item 148929	GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 144242	GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GPathogenic
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 153249	GRCh38/hg38 17p11.2(chr17:19533508-19751472)x1	ALDH3A1, ALDH3A2 +8 more	Copy number loss	See cases	GLikely benign
Select item 1343035	NM_001369137.2(ALDH3A2):c.-38+334G>C	ALDH3A2, LOC130060466	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326534	NM_001369137.2(ALDH3A2):c.-37-196T>C	ALDH3A2, LOC130060466	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 890699	NM_000382.3(ALDH3A2):c.-215C>T	ALDH3A2, LOC130060466	Single nucleotide variant (5 prime UTR variant +1 more)	Sjögren-Larsson syndrome	GUncertain significance
Select item 322203	NM_000382.3(ALDH3A2):c.-154G>A	ALDH3A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 322204	NM_000382.3(ALDH3A2):c.-149C>G	ALDH3A2	Single nucleotide variant (5 prime UTR variant +1 more)	Sjögren-Larsson syndrome	GLikely benign
Select item 322205	NM_000382.3(ALDH3A2):c.-97G>A	ALDH3A2	Single nucleotide variant (5 prime UTR variant +1 more)	Sjögren-Larsson syndrome	GUncertain significance
Select item 890700	NM_000382.3(ALDH3A2):c.-67C>T	ALDH3A2	Single nucleotide variant (5 prime UTR variant +1 more)	Sjögren-Larsson syndrome	GUncertain significance
Select item 891946	NM_000382.3(ALDH3A2):c.-11A>G	ALDH3A2	Single nucleotide variant (5 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 662844	NC_000017.11:g.(?_19648962)_(19675582_?)del	ALDH3A2, LOC130060467	Deletion	not provided	GPathogenic
Select item 322206	NM_000382.3(ALDH3A2):c.-3G>A	ALDH3A2	Single nucleotide variant (5 prime UTR variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 551722	NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)	ALDH3A2 (M1V)	Single nucleotide variant (missense variant +2 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 551717	NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)	ALDH3A2 (M1L)	Single nucleotide variant (missense variant +2 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 552666	NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)	ALDH3A2 (M1K)	Single nucleotide variant (missense variant +2 more)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 552722	NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)	ALDH3A2 (M1I)	Single nucleotide variant (missense variant +2 more)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 551714	NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)	ALDH3A2 (M1I)	Single nucleotide variant (missense variant +2 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 996694	NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)	ALDH3A2 (E4*)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 2857705	NM_000382.3(ALDH3A2):c.15C>G (p.Val5=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2422073	NM_000382.3(ALDH3A2):c.16C>T (p.Arg6Trp)	ALDH3A2 (R6W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 371103	NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)	ALDH3A2 (R9fs)	Deletion (frameshift variant +1 more)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1370055	NM_000382.3(ALDH3A2):c.28_29dup (p.Gln10fs)	ALDH3A2 (Q10fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 798709	NM_000382.3(ALDH3A2):c.27A>T (p.Arg9=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 495853	NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu)	ALDH3A2 (Q10E)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 188833	NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)	ALDH3A2 (Q10*)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2523023	NM_000382.3(ALDH3A2):c.29A>T (p.Gln10Leu)	ALDH3A2 (Q10L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1562953	NM_000382.3(ALDH3A2):c.36C>T (p.Phe12=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002476	NM_000382.3(ALDH3A2):c.37C>T (p.Leu13=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1528833	NM_000382.3(ALDH3A2):c.42C>T (p.Ser14=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 799673	NM_000382.3(ALDH3A2):c.45C>A (p.Gly15=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 816625	NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter)	ALDH3A2 (S17*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2181227	NM_000382.3(ALDH3A2):c.62G>A (p.Arg21Gln)	ALDH3A2 (R21Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1606255	NM_000382.3(ALDH3A2):c.63G>T (p.Arg21=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1426070	NM_000382.3(ALDH3A2):c.65T>C (p.Phe22Ser)	ALDH3A2 (F22S)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome +1 more	GUncertain significance
Select item 2859498	NM_000382.3(ALDH3A2):c.69G>A (p.Arg23=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 554435	NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter)	ALDH3A2 (Q25*)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1620280	NM_000382.3(ALDH3A2):c.75G>A (p.Gln25=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1986955	NM_000382.3(ALDH3A2):c.78G>T (p.Gln26His)	ALDH3A2 (Q26H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2074354	NM_000382.3(ALDH3A2):c.81G>A (p.Leu27=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 322207	NM_000382.3(ALDH3A2):c.86C>T (p.Ala29Val)	ALDH3A2 (A29V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1126027	NM_000382.3(ALDH3A2):c.87C>T (p.Ala29=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 891947	NM_000382.3(ALDH3A2):c.87C>G (p.Ala29=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	Sjögren-Larsson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1154535	NM_000382.3(ALDH3A2):c.88C>T (p.Leu30=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803205	NM_000382.3(ALDH3A2):c.90G>A (p.Leu30=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2844865	NM_000382.3(ALDH3A2):c.93G>A (p.Arg31=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1672751	NM_000382.3(ALDH3A2):c.94A>C (p.Arg32=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870114	NM_000382.3(ALDH3A2):c.96G>A (p.Arg32=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1027597	NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)	ALDH3A2 (Q35fs)	Deletion (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic

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