"Ambry Genetics"[submitter] AND "LRRTM1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2321328	NM_178839.5(LRRTM1):c.1402C>T (p.Arg468Cys)	LRRTM1, CTNNA2 (R468C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537741	NM_178839.5(LRRTM1):c.1376A>G (p.Gln459Arg)	LRRTM1, CTNNA2 (Q459R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346378	NM_178839.5(LRRTM1):c.1357T>C (p.Phe453Leu)	LRRTM1, CTNNA2 (F453L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393822	NM_178839.5(LRRTM1):c.1300G>A (p.Ala434Thr)	CTNNA2, LRRTM1 (A434T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458560	NM_178839.5(LRRTM1):c.1249G>A (p.Glu417Lys)	CTNNA2, LRRTM1 (E417K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513653	NM_178839.5(LRRTM1):c.1225G>A (p.Ala409Thr)	CTNNA2, LRRTM1 (A409T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282736	NM_178839.5(LRRTM1):c.1210G>C (p.Gly404Arg)	LRRTM1, CTNNA2 (G404R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524255	NM_178839.5(LRRTM1):c.1199G>C (p.Gly400Ala)	CTNNA2, LRRTM1 (G400A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353589	NM_178839.5(LRRTM1):c.1183G>A (p.Ala395Thr)	LRRTM1, CTNNA2 (A395T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309658	NM_178839.5(LRRTM1):c.1156C>A (p.Pro386Thr)	CTNNA2, LRRTM1 (P386T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233075	NM_178839.5(LRRTM1):c.1104G>C (p.Glu368Asp)	CTNNA2, LRRTM1 (E368D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529752	NM_178839.5(LRRTM1):c.1092G>C (p.Glu364Asp)	CTNNA2, LRRTM1 (E364D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557544	NM_178839.5(LRRTM1):c.1048G>A (p.Gly350Ser)	CTNNA2, LRRTM1 (G350S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205683	NM_178839.5(LRRTM1):c.1003C>T (p.Arg335Cys)	LRRTM1, CTNNA2 (R335C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283071	NM_178839.5(LRRTM1):c.977C>T (p.Ala326Val)	LRRTM1, CTNNA2 (A326V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487571	NM_178839.5(LRRTM1):c.794G>A (p.Gly265Asp)	CTNNA2, LRRTM1 (G265D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591000	NM_178839.5(LRRTM1):c.500A>G (p.His167Arg)	CTNNA2, LRRTM1 (H167R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569377	NM_178839.5(LRRTM1):c.385C>G (p.Pro129Ala)	CTNNA2, LRRTM1 (P129A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2237507	NM_178839.5(LRRTM1):c.233C>T (p.Ser78Leu)	CTNNA2, LRRTM1 (S78L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance