ClinVar for Gene (Select 57716) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367707	NM_181882.3(PRX):c.1974G>T (p.Gln658His)	PRX (Q658H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362759	NM_181882.3(PRX):c.1088C>T (p.Pro363Leu)	PRX (P363L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 3349662	NM_181882.3(PRX):c.382-9_382-6del	PRX	Microsatellite (3 prime UTR variant +1 more)	PRX-related disorder	GLikely benign
Select item 3340557	NM_181882.3(PRX):c.2646G>A (p.Val882=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3310793	NM_181882.3(PRX):c.208G>A (p.Val70Met)	PRX (V165M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3310792	NM_181882.3(PRX):c.1958A>C (p.His653Pro)	PRX (H653P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251689	NM_181882.3(PRX):c.1371G>A (p.Glu457=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3251091	NM_181882.3(PRX):c.3001del (p.His1001fs)	PRX (H1001fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3250673	NM_181882.3(PRX):c.1569G>C (p.Leu523=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3248510	NC_000019.9:g.(?_40913793)_(40913839_?)del	PRX	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3236419	NM_181882.3(PRX):c.3197T>G (p.Phe1066Cys)	PRX (F1066C +1 more)	Single nucleotide variant (missense variant +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 3220076	NM_181882.3(PRX):c.430G>A (p.Ala144Thr)	PRX (A239T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3220075	NM_181882.3(PRX):c.4280A>G (p.Asp1427Gly)	PRX (D1522G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3220073	NM_181882.3(PRX):c.3944G>A (p.Arg1315Gln)	PRX (R1315Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3220072	NM_181882.3(PRX):c.3943C>T (p.Arg1315Trp)	PRX (R1315W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3220071	NM_181882.3(PRX):c.3938T>C (p.Leu1313Pro)	PRX (L1313P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3220069	NM_181882.3(PRX):c.3754G>A (p.Ala1252Thr)	PRX (A1347T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3220067	NM_181882.3(PRX):c.3349G>A (p.Ala1117Thr)	PRX (A1117T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3220066	NM_181882.3(PRX):c.3247C>T (p.Pro1083Ser)	PRX (P1178S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3220065	NM_181882.3(PRX):c.3189G>A (p.Met1063Ile)	PRX (M1063I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3220064	NM_181882.3(PRX):c.3092G>A (p.Arg1031Gln)	PRX (R1126Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3220063	NM_181882.3(PRX):c.2948C>T (p.Ala983Val)	PRX (A983V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3220060	NM_181882.3(PRX):c.1021G>A (p.Gly341Ser)	PRX (G436S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064376	NM_181882.3(PRX):c.3397C>T (p.Gln1133Ter)	PRX (Q1133* +1 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3060444	NM_181882.3(PRX):c.1168del (p.Arg390fs)	PRX (R390fs +1 more)	Deletion (frameshift variant +1 more)	PRX-related disorder	GLikely pathogenic
Select item 3043317	NM_181882.3(PRX):c.-237C>T	PRX (R17W)	Single nucleotide variant (missense variant +1 more)	PRX-related disorder	GLikely benign
Select item 3027231	NM_181882.3(PRX):c.2499del (p.Leu834fs)	PRX (L834fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3026101	NM_181882.3(PRX):c.3558G>C (p.Gln1186His)	PRX (Q1186H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3019999	NM_181882.3(PRX):c.3801G>C (p.Gly1267=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3018157	NM_181882.3(PRX):c.1001_1022del (p.Gly334fs)	PRX (G334fs +1 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3017957	NM_181882.3(PRX):c.1344T>C (p.Pro448=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3015293	NM_181882.3(PRX):c.2374G>T (p.Ala792Ser)	PRX (A792S +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2998798	NM_181882.3(PRX):c.3729G>A (p.Leu1243=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2995408	NM_181882.3(PRX):c.2241G>A (p.Leu747=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2994106	NM_181882.3(PRX):c.888G>A (p.Glu296=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2990365	NM_181882.3(PRX):c.320T>G (p.Leu107Arg)	PRX (L107R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2988060	NM_181882.3(PRX):c.1767G>A (p.Lys589=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2982870	NM_181882.3(PRX):c.3264G>A (p.Glu1088=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2962963	NM_181882.3(PRX):c.2247A>G (p.Lys749=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2961712	NM_181882.3(PRX):c.1467G>T (p.Val489=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2954640	NM_181882.3(PRX):c.1404G>A (p.Val468=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2954639	NM_181882.3(PRX):c.1410C>G (p.Leu470=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2954638	NM_181882.3(PRX):c.1416G>A (p.Lys472=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	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
Select item 2919063	NM_181882.3(PRX):c.184+11C>T	PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2916899	NM_181882.3(PRX):c.81C>G (p.Thr27=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2901223	NM_181882.3(PRX):c.381+16C>G	PRX (P133A)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2897164	NM_181882.3(PRX):c.381+15C>T	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2896784	NM_181882.3(PRX):c.3900C>T (p.Ala1300=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2892660	NM_181882.3(PRX):c.819T>C (p.Leu273=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2890231	NM_181882.3(PRX):c.1155G>A (p.Arg385=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2885406	NM_181882.3(PRX):c.2637A>G (p.Gly879=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2882444	NM_181882.3(PRX):c.3834C>T (p.Asp1278=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2879767	NM_181882.3(PRX):c.2202G>A (p.Glu734=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2871034	NM_181882.3(PRX):c.3810T>C (p.Arg1270=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2851657	NM_181882.3(PRX):c.1999del (p.Leu667fs)	PRX (L762fs +1 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2851365	NM_181882.3(PRX):c.2301del (p.Leu768fs)	PRX (L768fs +1 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2826988	NM_181882.3(PRX):c.4035T>A (p.Thr1345=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2826737	NM_181882.3(PRX):c.116_131del (p.Lys39fs)	LOC130064454, PRX (K39fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2824123	NM_181882.3(PRX):c.3681A>G (p.Leu1227=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2823989	NM_181882.3(PRX):c.3371C>G (p.Ser1124Ter)	PRX (S1124* +1 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2813333	NM_181882.3(PRX):c.3445_3446insAGATGCCACCTGTG (p.Gly1149fs)	PRX (G1244fs +1 more)	Microsatellite (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 2806966	NM_181882.3(PRX):c.1657del (p.Glu553fs)	PRX (E553fs +1 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2804742	NM_181882.3(PRX):c.2032G>T (p.Val678Phe)	PRX (V678F +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2803049	NM_181882.3(PRX):c.3275del (p.Val1092fs)	PRX (V1187fs +1 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2789577	NM_181882.3(PRX):c.27+15G>A	PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2787432	NM_181882.3(PRX):c.1552_1562delinsT (p.Pro518fs)	PRX (P518fs +1 more)	Indel (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2783943	NM_181882.3(PRX):c.3133T>C (p.Leu1045=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2781134	NM_181882.3(PRX):c.2928G>A (p.Glu976=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2779576	NM_181882.3(PRX):c.1404_1481del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])	PRX	Deletion (inframe_deletion +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2777990	NM_181882.3(PRX):c.2180_2181del (p.Ile727fs)	PRX (I822fs +1 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2775924	NM_181882.3(PRX):c.2331C>T (p.Pro777=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2771383	NM_181882.3(PRX):c.1482A>G (p.Val494=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2757614	NM_181882.3(PRX):c.3120A>C (p.Pro1040=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2754834	NM_181882.3(PRX):c.744C>A (p.Val248=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2752080	NM_181882.3(PRX):c.105G>A (p.Ala35=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2742525	NM_181882.3(PRX):c.382-19C>T	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2741786	NM_181882.3(PRX):c.28-4G>A	LOC130064454, PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2739580	NM_181882.3(PRX):c.768T>G (p.Ala256=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2735665	NM_181882.3(PRX):c.382-20C>T	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2733666	NM_181882.3(PRX):c.3916G>A (p.Val1306Ile)	PRX (V1306I +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2731069	NM_181882.3(PRX):c.822G>T (p.Gly274=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2729304	NM_181882.3(PRX):c.4056C>T (p.Pro1352=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2727758	NM_181882.3(PRX):c.642C>G (p.Pro214=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2726401	NM_181882.3(PRX):c.847G>T (p.Val283Leu)	PRX (V378L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2724344	NM_181882.3(PRX):c.876C>T (p.Val292=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2722629	NM_181882.3(PRX):c.185-13A>T	PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2720663	NM_181882.3(PRX):c.3036C>T (p.Ala1012=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2720568	NM_181882.3(PRX):c.1617G>A (p.Pro539=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2716305	NM_181882.3(PRX):c.144C>T (p.Arg48=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2711978	NM_181882.3(PRX):c.1473T>C (p.Leu491=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2703425	NM_181882.3(PRX):c.2362A>T (p.Lys788Ter)	PRX (K883* +1 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2696298	NM_181882.3(PRX):c.227A>G (p.Lys76Arg)	PRX (K171R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2689834	NM_181882.3(PRX):c.232_233delinsAC (p.Glu78Thr)	PRX (E173T +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2684316	NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)	PRX (E1240K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2684315	NM_181882.3(PRX):c.2404_2412del (p.Pro802_Met804del)	PRX	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2684314	NM_181882.3(PRX):c.1791G>A (p.Glu597=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2684313	NM_181882.3(PRX):c.1134C>T (p.Ala378=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2683501	NM_181882.3(PRX):c.3705G>C (p.Glu1235Asp)	PRX (E1235D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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