"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ALDH3A2"[g - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495853	NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu)	ALDH3A2 (Q10E)	Single nucleotide variant (missense variant +1 more)	ALDH3A2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 322209	NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 966941	NM_000382.3(ALDH3A2):c.901_909delinsCCTTTGGG (p.Ala301fs)	ALDH3A2 (A108fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1603039	NM_000382.3(ALDH3A2):c.903T>C (p.Ala301=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 438270	NM_000382.3(ALDH3A2):c.909T>G (p.Gly303=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 808244	NM_000382.3(ALDH3A2):c.1189T>C (p.Phe397Leu)	ALDH3A2 (F204L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 890170	NM_000382.3(ALDH3A2):c.1254T>C (p.Thr418=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	Sjögren-Larsson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 283733	NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)	ALDH3A2 (P424S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 733489	NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1084452	NM_000382.3(ALDH3A2):c.1412T>C (p.Phe471Ser)	ALDH3A2 (F278S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	TOP3A, TRIM16L +44 more	Copy number loss	not provided	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 916447	GRCh37/hg19 17p11.2(chr17:19552285-19561175)x1	ALDH3A2	Copy number loss	not provided	GPathogenic