"GeneDx"[submitter] AND "ALDH3A2"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60134	GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3	AKAP10, ALDH3A1 +91 more	Copy number gain	See cases	GUncertain significance
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
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 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 1184628	NM_000382.3(ALDH3A2):c.153+39C>T	ALDH3A2	Single nucleotide variant (intron variant)	Sjögren-Larsson syndrome +1 more	GBenign
Select item 1302060	NM_000382.3(ALDH3A2):c.153+223C>G	ALDH3A2, LOC130060467	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296737	NM_000382.3(ALDH3A2):c.153+282A>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265458	NM_000382.3(ALDH3A2):c.191T>A (p.Val64Asp)	ALDH3A2 (V64D)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1302604	NM_000382.3(ALDH3A2):c.202A>G (p.Ile68Val)	ALDH3A2 (I68V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 891948	NM_000382.3(ALDH3A2):c.287A>G (p.Tyr96Cys)	ALDH3A2 (Y96C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 265029	NM_000382.3(ALDH3A2):c.374_378del (p.Ala125fs)	ALDH3A2 (A125fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1232758	NM_000382.3(ALDH3A2):c.386-135A>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 322208	NM_000382.3(ALDH3A2):c.386-6A>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 265030	NM_000382.3(ALDH3A2):c.386-2A>T	ALDH3A2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1184629	NM_000382.3(ALDH3A2):c.471+31T>C	ALDH3A2	Single nucleotide variant (intron variant)	Sjögren-Larsson syndrome +1 more	GBenign
Select item 1245701	NM_000382.3(ALDH3A2):c.471+246_471+247del	ALDH3A2	Microsatellite (intron variant)	not provided	GBenign
Select item 1245895	NM_000382.3(ALDH3A2):c.472-211A>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245396	NM_000382.3(ALDH3A2):c.472-150G>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184630	NM_000382.3(ALDH3A2):c.472-56G>A	ALDH3A2	Single nucleotide variant (intron variant)	Sjögren-Larsson syndrome +1 more	GBenign
Select item 545956	NM_000382.3(ALDH3A2):c.480T>G (p.Tyr160Ter)	ALDH3A2 (Y160*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 265027	NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)	ALDH3A2 (R177*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188768	NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)	ALDH3A2 (T184M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1019552	NM_000382.3(ALDH3A2):c.554G>A (p.Gly185Glu)	ALDH3A2 (G185E)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 322210	NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val)	ALDH3A2 (A188V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 280660	NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs)	ALDH3A2 (I192fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1878338	NM_000382.3(ALDH3A2):c.680+1G>A	ALDH3A2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1264651	NM_000382.3(ALDH3A2):c.681-206A>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1331151	NM_000382.3(ALDH3A2):c.681-159C>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188866	NM_000382.3(ALDH3A2):c.681-37_681-30del	ALDH3A2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 449458	NM_000382.3(ALDH3A2):c.681-14T>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 556574	NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)	ALDH3A2 (R228C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 265459	NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)	ALDH3A2 (D245N +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 804419	NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter)	ALDH3A2 (W66* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1643	NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn)	ALDH3A2 (K266N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1264127	NM_000382.3(ALDH3A2):c.798+254T>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238378	NM_000382.3(ALDH3A2):c.798+259A>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430161	NM_000382.3(ALDH3A2):c.835T>A (p.Tyr279Asn)	ALDH3A2 (Y279N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1184631	NM_000382.3(ALDH3A2):c.940+53C>G	ALDH3A2	Single nucleotide variant (intron variant)	Sjögren-Larsson syndrome +1 more	GBenign/Likely benign
Select item 1262855	NM_000382.3(ALDH3A2):c.940+232C>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1640	NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)	ALDH3A2 (P315S +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 432183	NM_000382.3(ALDH3A2):c.1069A>T (p.Lys357Ter)	ALDH3A2 (K357* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2503148	NM_000382.3(ALDH3A2):c.1097A>G (p.His366Arg)	ALDH3A2 (H173R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321531	NM_000382.3(ALDH3A2):c.1107+208C>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 370452	NM_000382.3(ALDH3A2):c.1108-1G>C	ALDH3A2	Single nucleotide variant (splice acceptor variant)	Sjögren-Larsson syndrome +1 more	GPathogenic
Select item 390465	NM_000382.3(ALDH3A2):c.1144G>A (p.Gly382Ser)	ALDH3A2 (G382S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379490	NM_000382.3(ALDH3A2):c.1202G>A (p.Gly401Glu)	ALDH3A2 (G401E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1188867	NM_000382.3(ALDH3A2):c.1207+130del	ALDH3A2	Deletion (intron variant)	Sjögren-Larsson syndrome +1 more	GBenign
Select item 1641	NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)	ALDH3A2 (E240fs +1 more)	Microsatellite (frameshift variant +1 more)	Sjögren-Larsson syndrome +1 more	GPathogenic
Select item 619024	NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter)	ALDH3A2 (K437* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1229702	NM_000382.3(ALDH3A2):c.1443+1009C>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256833	NM_000382.3(ALDH3A2):c.1443+1022T>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268954	NM_000382.3(ALDH3A2):c.1443+1400del	ALDH3A2	Deletion (intron variant)	not provided	GBenign
Select item 1182258	NM_000382.3(ALDH3A2):c.1443+1440del	ALDH3A2	Deletion (intron variant)	not provided	GBenign
Select item 1288092	NM_000382.3(ALDH3A2):c.1444-225T>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281174	NM_000382.3(ALDH3A2):c.1444-131del	ALDH3A2	Deletion (intron variant)	not provided	GBenign
Select item 322219	NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=)	ALDH3A2 (R404*)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 322220	NM_000382.3(ALDH3A2):c.*36G>A	ALDH3A2 (E420K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 253750	GRCh37/hg19 17p11.2(chr17:19566664-19845308)x3	SLC47A2, ALDH3A2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253648	GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	See cases	GPathogenic
Select item 253426	GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1	EPN2, EVPLL +45 more	Copy number loss	See cases	GPathogenic

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Items: 62