"Ambry Genetics"[submitter] AND "LKAAEAR1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2613601	NM_001353425.2(LKAAEAR1):c.*12A>C	LKAAEAR1, OPRL1 (S229R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355415	NM_001353425.2(LKAAEAR1):c.*11G>C	LKAAEAR1, OPRL1 (E228D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389483	NM_001353425.2(LKAAEAR1):c.525+19A>G	LKAAEAR1, OPRL1 (R182G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621366	NM_001353425.2(LKAAEAR1):c.525+17G>C	LKAAEAR1, OPRL1 (G181A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351165	NM_001353425.2(LKAAEAR1):c.525+14C>T	LKAAEAR1, OPRL1 (P180L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612648	NM_001353425.2(LKAAEAR1):c.523G>A (p.Glu175Lys)	LKAAEAR1, OPRL1 (E175K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119135	NM_001353425.2(LKAAEAR1):c.503C>T (p.Pro168Leu)	LKAAEAR1, OPRL1 (P168L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358663	NM_001353425.2(LKAAEAR1):c.452C>A (p.Ala151Asp)	LKAAEAR1, OPRL1 (A151D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119134	NM_001353425.2(LKAAEAR1):c.434A>G (p.Gln145Arg)	LKAAEAR1, OPRL1 (Q145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377283	NM_001353425.2(LKAAEAR1):c.424A>T (p.Ile142Phe)	LKAAEAR1, OPRL1 (I142F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606084	NM_001353425.2(LKAAEAR1):c.411G>C (p.Glu137Asp)	LKAAEAR1, OPRL1 (E137D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119133	NM_001353425.2(LKAAEAR1):c.310G>A (p.Ala104Thr)	LKAAEAR1, OPRL1 (A104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262211	NM_001353425.2(LKAAEAR1):c.298C>A (p.Leu100Ile)	LKAAEAR1, OPRL1 (L100I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119132	NM_001353425.2(LKAAEAR1):c.274G>A (p.Asp92Asn)	LKAAEAR1, OPRL1 (D92N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599214	NM_001353425.2(LKAAEAR1):c.266G>T (p.Arg89Leu)	LKAAEAR1, OPRL1 (R89L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604425	NM_001353425.2(LKAAEAR1):c.257C>T (p.Pro86Leu)	LKAAEAR1, OPRL1 (P86L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2224211	NM_001353425.2(LKAAEAR1):c.227C>A (p.Ala76Asp)	LKAAEAR1, OPRL1 (A76D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119131	NM_001353425.2(LKAAEAR1):c.155C>T (p.Ala52Val)	LKAAEAR1, OPRL1 (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357335	NM_001353425.2(LKAAEAR1):c.115C>T (p.Pro39Ser)	LKAAEAR1, OPRL1 (P39S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290846	NM_001353425.2(LKAAEAR1):c.5C>G (p.Pro2Arg)	LKAAEAR1, OPRL1 (P2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 20