"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 864586	NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp)	ALDH4A1, LOC129929550 (A20D)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 471330	NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu)	ALDH4A1, LOC129929550 (P16L)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2 +1 more	GBenign/Likely benign
Select item 1945790	NM_003748.4(ALDH4A1):c.43C>T (p.Arg15Cys)	ALDH4A1, LOC129929550 (R15C)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1399400	NM_003748.4(ALDH4A1):c.43C>G (p.Arg15Gly)	ALDH4A1, LOC129929550 (R15G)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1899844	NM_003748.4(ALDH4A1):c.42C>G (p.Ser14=)	ALDH4A1, LOC129929550	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1400040	NM_003748.4(ALDH4A1):c.12_17del (p.4PA[1])	ALDH4A1, LOC129929550	Deletion (inframe_deletion)	Hyperprolinemia type 2	GUncertain significance
Select item 846391	NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)	ALDH4A1, LOC129929550 (P6S)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2878184	NM_003748.4(ALDH4A1):c.1A>G (p.Met1Val)	ALDH4A1, LOC129929550 (M1V)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity