"Ambry Genetics"[submitter] AND "LIMS1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2518887	NM_001193483.3(LIMS1):c.33-4472G>A	LIMS1 (R20Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2546164	NM_001193483.3(LIMS1):c.33-4433A>G	LIMS1 (E33G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410604	NM_001193483.3(LIMS1):c.33-4413A>C	LIMS1 (K40Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356896	NM_001193483.3(LIMS1):c.33-4403G>T	LIMS1 (R43L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335449	NM_001193483.3(LIMS1):c.33-4401A>G	LIMS1 (R44G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531033	NM_001193483.3(LIMS1):c.33-4389G>A	LIMS1 (V48M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488960	NM_001193483.3(LIMS1):c.33-4355C>T	LIMS1 (A59V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326823	NM_001193483.3(LIMS1):c.61A>G (p.Thr21Ala)	LIMS1 (T21A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462214	NM_001193483.3(LIMS1):c.67G>A (p.Glu23Lys)	LIMS1 (E15K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357852	NM_001193483.3(LIMS1):c.70C>T (p.Arg24Cys)	LIMS1 (R49C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343262	NM_001193483.3(LIMS1):c.94G>A (p.Ala32Thr)	LIMS1 (A57T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357210	NM_001193483.3(LIMS1):c.211T>C (p.Cys71Arg)	LIMS1 (C121R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356116	NM_001193483.3(LIMS1):c.436A>G (p.Ile146Val)	LIMS1 (I146V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260808	NM_001193483.3(LIMS1):c.475C>G (p.Leu159Val)	LIMS1 (L151V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229861	NM_001193483.3(LIMS1):c.535G>C (p.Glu179Gln)	LIMS1 (E167Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229862	NM_001193483.3(LIMS1):c.536A>T (p.Glu179Val)	LIMS1 (E174V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274125	NM_001193483.3(LIMS1):c.626G>A (p.Arg209Gln)	LIMS1 (R201Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223879	NM_001193483.3(LIMS1):c.944G>A (p.Cys315Tyr)	LIMS1 (C315Y +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance