"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ALDH1L1 - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 784021	NM_012190.4(ALDH1L1):c.2503G>T (p.Ala835Ser)	ALDH1L1, ALDH1L1-AS1 (A845S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 713087	NM_012190.4(ALDH1L1):c.2453+6G>A	ALDH1L1, ALDH1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780408	NM_012190.4(ALDH1L1):c.2334G>A (p.Gln778=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 722832	NM_012190.4(ALDH1L1):c.1335C>T (p.Thr445=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775905	NM_012190.4(ALDH1L1):c.1225G>A (p.Val409Met)	ALDH1L1 (V308M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 727614	NM_012190.4(ALDH1L1):c.1192G>C (p.Asp398His)	ALDH1L1 (D398H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 775906	NM_012190.4(ALDH1L1):c.1152T>C (p.Phe384=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 711884	NM_012190.4(ALDH1L1):c.729A>G (p.Thr243=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 728734	NM_012190.4(ALDH1L1):c.631-5C>T	ALDH1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 795917	NM_012190.4(ALDH1L1):c.477C>T (p.Thr159=)	ALDH1L1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 733685	NM_012190.4(ALDH1L1):c.441G>T (p.Leu147=)	ALDH1L1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 734456	NM_012190.4(ALDH1L1):c.234C>T (p.Ala78=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 790543	NM_012190.4(ALDH1L1):c.128-9G>A	ALDH1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784601	NM_012190.4(ALDH1L1):c.68G>A (p.Gly23Asp)	ALDH1L1 (G23D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	MBD4, MCM2 +109 more	Deletion	Alkaptonuria	GPathogenic