"Ambry Genetics"[submitter] AND "LAS1L"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2246253	NM_031206.7(LAS1L):c.2170C>A (p.Leu724Met)	LAS1L (L707M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552311	NM_031206.7(LAS1L):c.2117G>A (p.Cys706Tyr)	LAS1L (C688Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2488775	NM_031206.7(LAS1L):c.2021A>G (p.Tyr674Cys)	LAS1L (Y673C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328893	NM_031206.7(LAS1L):c.1894G>A (p.Ala632Thr)	LAS1L (A573T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 464823	NM_031206.7(LAS1L):c.1892G>C (p.Gly631Ala)	LAS1L (G631A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1690406	NM_031206.7(LAS1L):c.1871G>A (p.Arg624Lys)	LAS1L (R305K +3 more)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GUncertain significance
Select item 649903	NM_031206.7(LAS1L):c.1705A>G (p.Lys569Glu)	LAS1L (K552E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2241630	NM_031206.7(LAS1L):c.1433C>G (p.Pro478Arg)	LAS1L (P461R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 208745	NM_031206.7(LAS1L):c.1430G>A (p.Ser477Asn)	LAS1L (S477N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1334035	NM_031206.7(LAS1L):c.1298C>T (p.Thr433Ile)	LAS1L (T114I +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome +1 more	GUncertain significance
Select item 577687	NM_031206.7(LAS1L):c.715G>T (p.Asp239Tyr)	LAS1L (D239Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2303937	NM_031206.7(LAS1L):c.709G>A (p.Glu237Lys)	LAS1L (E195K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1699481	NM_031206.7(LAS1L):c.663C>A (p.Asp221Glu)	LAS1L (D179E +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome +1 more	GUncertain significance
Select item 3117925	NM_031206.7(LAS1L):c.407T>C (p.Val136Ala)	LAS1L (V136A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 521744	NM_031206.7(LAS1L):c.347G>C (p.Gly116Ala)	LAS1L (G116A)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 2399734	NM_031206.7(LAS1L):c.42G>C (p.Gln14His)	LAS1L (Q14H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 704102	NM_031206.7(LAS1L):c.5C>T (p.Ser2Leu)	LAS1L (S2L)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity