"Ambry Genetics"[submitter] AND "LOC130064454"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1774592	NM_181882.3(PRX):c.152C>T (p.Ser51Leu)	LOC130064454, PRX (S146L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1062705	NM_181882.3(PRX):c.148G>T (p.Asp50Tyr)	LOC130064454, PRX (D50Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 961704	NM_181882.3(PRX):c.138G>C (p.Glu46Asp)	LOC130064454, PRX (E46D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 448135	NM_181882.3(PRX):c.134G>A (p.Arg45Gln)	LOC130064454, PRX (R45Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2364460	NM_181882.3(PRX):c.116A>G (p.Lys39Arg)	LOC130064454, PRX (K134R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 513758	NM_181882.3(PRX):c.108C>A (p.Gly36=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 1014853	NM_181882.3(PRX):c.104C>T (p.Ala35Val)	LOC130064454, PRX (A35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 805246	NM_181882.3(PRX):c.104C>A (p.Ala35Glu)	LOC130064454, PRX (A35E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2281796	NM_181882.3(PRX):c.103G>A (p.Ala35Thr)	LOC130064454, PRX (A35T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 512272	NM_181882.3(PRX):c.102A>C (p.Val34=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 1768879	NM_181882.3(PRX):c.99C>G (p.Asn33Lys)	LOC130064454, PRX (N33K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 246066	NM_181882.3(PRX):c.85G>A (p.Val29Ile)	LOC130064454, PRX (V29I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 543484	NM_181882.3(PRX):c.75G>A (p.Ala25=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign