"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1208 - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 656833	NC_000001.10:g.(?_19199319)_(19204126_?)dup	ALDH4A1, LOC120893116	Duplication	Hyperprolinemia type 2	GUncertain significance
Select item 2994571	NM_003748.4(ALDH4A1):c.1460+16G>C	ALDH4A1, LOC120893116	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 876152	NM_003748.4(ALDH4A1):c.1460+15C>T	ALDH4A1, LOC120893116	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 471328	NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu)	ALDH4A1, LOC120893116 (G480E +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1378145	NM_003748.4(ALDH4A1):c.1435A>T (p.Thr479Ser)	LOC120893116, ALDH4A1 (T428S +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294366	NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala)	ALDH4A1, LOC120893116 (T473A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 294367	NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile)	ALDH4A1, LOC120893116 (V470I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 703507	NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr)	ALDH4A1, LOC120893116 (K411T +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GLikely benign
Select item 2201073	NM_003748.4(ALDH4A1):c.1379_1380delinsGC (p.Asp460Gly)	ALDH4A1, LOC120893116 (D460G +2 more)	Indel (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294369	NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=)	ALDH4A1, LOC120893116	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2 +1 more	GBenign
Select item 294370	NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)	ALDH4A1, LOC120893116	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 2903964	NM_003748.4(ALDH4A1):c.1368C>T (p.Tyr456=)	ALDH4A1, LOC120893116	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 971226	NM_003748.4(ALDH4A1):c.1348G>A (p.Gly450Arg)	ALDH4A1, LOC120893116 (G390R +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2194695	NM_003748.4(ALDH4A1):c.1339-12C>T	ALDH4A1, LOC120893116	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign