Related gene-specific medical variations for Gene (Select 224) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243116	NC_000017.10:g.(?_19559882)_(19560846_?)del	ALDH3A2	Deletion	not provided	GLikely pathogenic
Select item 3239679	NM_000382.3(ALDH3A2):c.901del (p.Ala301fs)	ALDH3A2 (A108fs +1 more)	Deletion (frameshift variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 3233377	NM_000382.3(ALDH3A2):c.385+1G>C	ALDH3A2	Single nucleotide variant (splice donor variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 3065983	NM_000382.3(ALDH3A2):c.1350G>A (p.Trp450Ter)	ALDH3A2 (W257* +1 more)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 2440904	NM_000382.3(ALDH3A2):c.341C>T (p.Pro114Leu)	ALDH3A2 (P114L)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
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 1323874	NM_000382.3(ALDH3A2):c.776G>A (p.Trp259Ter)	ALDH3A2 (W259* +1 more)	Single nucleotide variant (nonsense)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 1322996	NM_000382.3(ALDH3A2):c.639_640del (p.Cys214fs)	ALDH3A2 (C214fs +1 more)	Deletion (frameshift variant)	Sjögren-Larsson syndrome	GPathogenic
Select item 1302060	NM_000382.3(ALDH3A2):c.153+223C>G	ALDH3A2, LOC130060467	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 990022	NM_000382.3(ALDH3A2):c.352A>G (p.Thr118Ala)	ALDH3A2 (T118A)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome	GUncertain significance
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 443131	GRCh37/hg19 17p11.2(chr17:19494823-19563018)x0	ALDH3A2	Copy number loss	See cases	GPathogenic
Select item 438272	NM_000382.3(ALDH3A2):c.901G>C (p.Ala301Pro)	ALDH3A2 (A301P +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 438271	NM_000382.3(ALDH3A2):c.906del (p.Phe302fs)	ALDH3A2 (F109fs +1 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant