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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 371604	NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs)	ALDH3A2 (K51fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370913	NM_000382.3(ALDH3A2):c.153+2T>G	ALDH3A2	Single nucleotide variant (splice donor variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 550860	NM_000382.2(ALDH3A2):c.154_155delAG	ALDH3A2	Microsatellite	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 370301	NM_000382.3(ALDH3A2):c.231del (p.Glu77fs)	ALDH3A2 (E77fs)	Deletion (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 370209	NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)	ALDH3A2 (W78*)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 554945	NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)	ALDH3A2 (K86del)	Microsatellite (inframe_deletion +1 more)	Sjögren-Larsson syndrome	GUncertain significance
Select item 370430	NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)	ALDH3A2 (A95fs)	Duplication (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 556629	NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer)	ALDH3A2	Deletion (nonsense +1 more)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 189163	NM_000382.3(ALDH3A2):c.471+1del	ALDH3A2	Deletion (splice donor variant)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 554843	NM_000382.3(ALDH3A2):c.471+2T>G	ALDH3A2	Single nucleotide variant (splice donor variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 554479	NM_000382.3(ALDH3A2):c.472-2A>G	ALDH3A2	Single nucleotide variant (splice acceptor variant)	Sjögren-Larsson syndrome	GPathogenic/Likely pathogenic
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 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 370896	NM_000382.3(ALDH3A2):c.577del (p.Val193fs)	ALDH3A2 (V193fs)	Deletion (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
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 371336	NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)	ALDH3A2 (I64fs +1 more)	Duplication (frameshift variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 371195	NM_000382.3(ALDH3A2):c.798+1del	ALDH3A2	Deletion (splice donor variant)	Sjögren-Larsson syndrome +1 more	GPathogenic
Select item 371540	NM_000382.3(ALDH3A2):c.798+1_798+6del	ALDH3A2	Deletion (splice donor variant)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 371446	NM_000382.3(ALDH3A2):c.798+1G>A	ALDH3A2	Single nucleotide variant (splice donor variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 189079	NM_000382.3(ALDH3A2):c.798+5G>A	ALDH3A2	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370813	NM_000382.3(ALDH3A2):c.824_825del (p.Glu275fs)	ALDH3A2 (E275fs +1 more)	Microsatellite (frameshift variant)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 189187	NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)	ALDH3A2 (A108fs +1 more)	Indel (frameshift variant)	Sjögren-Larsson syndrome	GPathogenic/Likely pathogenic
Select item 557168	NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)	ALDH3A2	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552094	NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)	ALDH3A2 (M328I +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 552611	NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del)	ALDH3A2 (E331del +1 more)	Microsatellite (inframe_deletion)	Sjögren-Larsson syndrome +1 more	GUncertain significance
Select item 371221	NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)	ALDH3A2 (S365L +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 189010	NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)	ALDH3A2 (N174fs +1 more)	Deletion (frameshift variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 370751	NM_000382.3(ALDH3A2):c.1108-2A>G	ALDH3A2	Single nucleotide variant (splice acceptor variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 558054	NM_000382.3(ALDH3A2):c.1108-1G>A	ALDH3A2	Single nucleotide variant (splice acceptor variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 370471	NM_000382.3(ALDH3A2):c.1108-1G>T	ALDH3A2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1644	NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)	ALDH3A2 (N386S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557412	NM_000382.3(ALDH3A2):c.1207+1G>A	ALDH3A2	Single nucleotide variant (splice donor variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 551105	NM_000382.3(ALDH3A2):c.1212del (p.Ser405fs)	ALDH3A2 (S405fs +1 more)	Deletion (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 556359	NM_000382.3(ALDH3A2):c.1258dup (p.Ser420fs)	ALDH3A2 (S420fs +1 more)	Duplication (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 552750	NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)	ALDH3A2 (L426* +1 more)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 371472	NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)	ALDH3A2 (A242fs +1 more)	Duplication (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1642	NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs)	ALDH3A2 (L438fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 551965	NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)	ALDH3A2 (R439fs +1 more)	Duplication (frameshift variant +1 more)	Sjögren-Larsson syndrome	GUncertain significance
Select item 552218	NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)	ALDH3A2	Deletion (nonsense +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 552790	NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)	ALDH3A2 (L456* +1 more)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 555455	NM_000382.3(ALDH3A2):c.1443+1G>A	ALDH3A2	Single nucleotide variant (splice donor variant +1 more)	Sjögren-Larsson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 556695	NM_000382.3(ALDH3A2):c.1443+1222del	ALDH3A2 (A491fs)	Deletion (frameshift variant +1 more)	Sjögren-Larsson syndrome	GLikely benign
Select item 550147	NM_000382.3(ALDH3A2):c.1443+1273_1443+1275delinsGG	ALDH3A2 (R508fs)	Indel (frameshift variant +1 more)	Sjögren-Larsson syndrome	GUncertain significance
Select item 371097	NM_000382.3(ALDH3A2):c.1444-1G>T	ALDH3A2	Single nucleotide variant (splice acceptor variant)	Sjögren-Larsson syndrome	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55