"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 543355	NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)	PRX (R1436Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +5 more	GUncertain significance
Select item 329250	NM_181882.3(PRX):c.4044G>C (p.Gly1348=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 329253	NM_181882.3(PRX):c.3846G>A (p.Ser1282=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 543486	NM_181882.3(PRX):c.3838G>C (p.Glu1280Gln)	PRX (E1280Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 476966	NM_181882.3(PRX):c.3708G>A (p.Ala1236=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 994142	NM_181882.3(PRX):c.3646G>A (p.Val1216Met)	PRX (V1216M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 329256	NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
Select item 216835	NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)	PRX (P1166S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 245663	NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)	PRX (G1125S)	Single nucleotide variant (3 prime UTR variant +1 more)	Tip-toe gait +6 more	GConflicting classifications of pathogenicity
Select item 916919	NM_181882.3(PRX):c.3239G>A (p.Arg1080His)	PRX (R1080H)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 329259	NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly)	PRX (E1073G)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 245910	NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)	PRX (K1062N)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +5 more	GConflicting classifications of pathogenicity
Select item 596634	NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly)	PRX (E1037G)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 378435	NM_181882.3(PRX):c.2469G>A (p.Ala823=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 216834	NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)	PRX (E752K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1330927	NM_181882.3(PRX):c.2230G>A (p.Glu744Lys)	PRX (E744K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 215545	NM_181882.3(PRX):c.1483G>C (p.Glu495Gln)	PRX (E495Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 410600	NM_181882.3(PRX):c.1391G>A (p.Arg464Gln)	PRX (R464Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 580375	NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)	PRX (R464*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 329277	NM_181882.3(PRX):c.1281C>T (p.Ile427=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 1105904	NM_181882.3(PRX):c.1251G>T (p.Leu417=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 220724	NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)	PRX (A406T)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 220690	NM_181882.3(PRX):c.1051C>T (p.Pro351Ser)	PRX (P351S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 216837	NM_181882.3(PRX):c.994A>G (p.Thr332Ala)	PRX (T332A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1330464	NM_181882.3(PRX):c.993G>T (p.Pro331=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1330994	NM_181882.3(PRX):c.862G>A (p.Val288Met)	PRX (V288M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 216836	NM_181882.3(PRX):c.823C>A (p.Leu275Ile)	PRX (L275I)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +6 more	GConflicting classifications of pathogenicity
Select item 138817	NM_181882.3(PRX):c.731C>T (p.Ala244Val)	PRX (A244V)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +4 more	GBenign/Likely benign
Select item 2428601	NM_181882.3(PRX):c.381+41G>A	PRX (S141N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 388951	NM_181882.3(PRX):c.354G>A (p.Lys118=)	PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +3 more	GLikely benign
Select item 2921066	NM_181882.3(PRX):c.7G>A (p.Ala3Thr)	PRX (A98T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31