57716[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1258460	NC_000019.10:g.40393737C>T	PRX	Single nucleotide variant	not provided	GBenign
Select item 892625	NM_181882.3(PRX):c.*168C>A	PRX	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 329243	NM_181882.3(PRX):c.*152A>G	PRX	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 329244	NM_181882.3(PRX):c.*144C>T	PRX	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4F +1 more	GLikely benign
Select item 892626	NM_181882.3(PRX):c.*45C>T	PRX	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 656287	NC_000019.9:g.(?_40899863)_(40913849_?)dup	LOC130064453, LOC130064454 +2 more	Duplication	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1740169	NM_181882.3(PRX):c.4381G>A (p.Val1461Ile)	PRX (V1556I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1740129	NM_181882.3(PRX):c.4379C>T (p.Ala1460Val)	PRX (A1555V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 699488	NM_181882.3(PRX):c.4377G>A (p.Ala1459=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 329245	NM_181882.3(PRX):c.4376C>T (p.Ala1459Val)	PRX (A1459V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 1693746	NM_181882.3(PRX):c.4366G>T (p.Ala1456Ser)	PRX (A1456S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 543398	NM_181882.3(PRX):c.4366G>C (p.Ala1456Pro)	PRX (A1456P)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 1555047	NM_181882.3(PRX):c.4365G>A (p.Gly1455=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1305911	NM_181882.3(PRX):c.4352C>T (p.Ala1451Val)	PRX (A1451V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1196265	NM_181882.3(PRX):c.4350G>A (p.Pro1450=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 656483	NM_181882.3(PRX):c.4349C>T (p.Pro1450Leu)	PRX (P1450L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2202274	NM_181882.3(PRX):c.4343C>T (p.Pro1448Leu)	PRX (P1543L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 917233	NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)	PRX (A1447fs)	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 2094512	NM_181882.3(PRX):c.4335A>G (p.Thr1445=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1035820	NM_181882.3(PRX):c.4334C>T (p.Thr1445Ile)	PRX (T1445I)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 856549	NM_181882.3(PRX):c.4333A>T (p.Thr1445Ser)	PRX (T1445S)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 476975	NM_181882.3(PRX):c.4333A>G (p.Thr1445Ala)	PRX (T1445A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 1029319	NM_181882.3(PRX):c.4330G>C (p.Glu1444Gln)	PRX (E1444Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 634531	NM_181882.3(PRX):c.4318G>A (p.Val1440Met)	PRX (V1440M)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 more	GUncertain significance
Select item 1019652	NM_181882.3(PRX):c.4317C>A (p.Ser1439Arg)	PRX (S1439R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 416225	NM_181882.3(PRX):c.4317C>T (p.Ser1439=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 more	GConflicting classifications of pathogenicity
Select item 962806	NM_181882.3(PRX):c.4316G>T (p.Ser1439Ile)	PRX (S1439I)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 694910	NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala)	PRX (P1438A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
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 1739585	NM_181882.3(PRX):c.4306C>G (p.Arg1436Gly)	PRX (R1436G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 834204	NM_181882.3(PRX):c.4306C>T (p.Arg1436Trp)	PRX (R1436W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 242186	NM_181882.3(PRX):c.4304T>C (p.Val1435Ala)	PRX (V1435A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1739573	NM_181882.3(PRX):c.4303G>A (p.Val1435Met)	PRX (V1435M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 543420	NM_181882.3(PRX):c.4301G>A (p.Arg1434Gln)	PRX (R1434Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 2152949	NM_181882.3(PRX):c.4300C>T (p.Arg1434Trp)	PRX (R1529W +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 838064	NM_181882.3(PRX):c.4290G>C (p.Glu1430Asp)	PRX (E1430D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1949111	NM_181882.3(PRX):c.4288G>T (p.Glu1430Ter)	PRX (E1430* +1 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1372556	NM_181882.3(PRX):c.4285G>A (p.Glu1429Lys)	PRX (E1429K)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1305050	NM_181882.3(PRX):c.4283A>C (p.Gln1428Pro)	PRX (Q1428P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 893429	NM_181882.3(PRX):c.4279G>T (p.Asp1427Tyr)	PRX (D1427Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 916914	NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr)	PRX (S1425T)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 640692	NM_181882.3(PRX):c.4270G>C (p.Gly1424Arg)	PRX (G1424R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 476974	NM_181882.3(PRX):c.4270G>A (p.Gly1424Arg)	PRX (G1424R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1057401	NM_181882.3(PRX):c.4268G>A (p.Ser1423Asn)	PRX (S1423N)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2531642	NM_181882.3(PRX):c.4267A>G (p.Ser1423Gly)	PRX (S1423G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1376249	NM_181882.3(PRX):c.4267A>C (p.Ser1423Arg)	PRX (S1423R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 661689	NM_181882.3(PRX):c.4265G>A (p.Arg1422Gln)	PRX (R1422Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1510525	NM_181882.3(PRX):c.4253G>A (p.Ser1418Asn)	PRX (S1418N)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2414761	NM_181882.3(PRX):c.4251A>G (p.Leu1417=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 543381	NM_181882.3(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu)	PRX	Duplication (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 1710493	NM_181882.3(PRX):c.4243G>A (p.Val1415Met)	PRX (V1415M +1 more)	Single nucleotide variant (missense variant +1 more)	Dejerine-Sottas disease +1 more	GUncertain significance
Select item 1481100	NM_181882.3(PRX):c.4240A>G (p.Arg1414Gly)	PRX (R1414G)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1442408	NM_181882.3(PRX):c.4232G>A (p.Arg1411His)	PRX (R1411H)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 663881	NM_181882.3(PRX):c.4232G>T (p.Arg1411Leu)	PRX (R1411L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 568888	NM_181882.3(PRX):c.4231C>T (p.Arg1411Cys)	PRX (R1411C)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 543441	NM_181882.3(PRX):c.4224C>G (p.Pro1408=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 246041	NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala)	PRX (S1407A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GUncertain significance
Select item 2020666	NM_181882.3(PRX):c.4217_4218insTGATGCAGCCCCCAAGTCCCCCGTCAGAGAGAA (p.Glu1405_Lys1406insAsnAspAlaAlaProLysSerProValArgGlu)	PRX	Insertion (inframe_indel +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2069280	NM_181882.3(PRX):c.4205_4206dup (p.Val1403fs)	PRX (V1403fs)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 476973	NM_181882.3(PRX):c.4207G>A (p.Val1403Ile)	PRX (V1403I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 383597	NM_181882.3(PRX):c.4206C>T (p.Pro1402=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 700306	NM_181882.3(PRX):c.4200G>A (p.Lys1400=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 916826	NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg)	PRX (K1400R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 543397	NM_181882.3(PRX):c.4196C>T (p.Pro1399Leu)	PRX (P1399L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 694911	NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn)	PRX (D1396N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1995075	NM_181882.3(PRX):c.4185C>T (p.Gly1395=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1992849	NM_181882.3(PRX):c.4183G>A (p.Gly1395Ser)	PRX (G1395S +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 917241	NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys)	PRX (E1394K)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1921420	NM_181882.3(PRX):c.4176G>A (p.Gly1392=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2166282	NM_181882.3(PRX):c.4173G>A (p.Arg1391=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1685045	NM_181882.3(PRX):c.4172G>A (p.Arg1391Gln)	PRX (R1391Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1019032	NM_181882.3(PRX):c.4172G>C (p.Arg1391Pro)	PRX (R1391P)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 476972	NM_181882.3(PRX):c.4171C>T (p.Arg1391Trp)	PRX (R1391W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 242185	NM_181882.3(PRX):c.4171C>G (p.Arg1391Gly)	PRX (R1391G)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 more	GUncertain significance
Select item 1717129	NM_181882.3(PRX):c.4169C>G (p.Ser1390Cys)	PRX (S1390C +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 864606	NM_181882.3(PRX):c.4165G>A (p.Ala1389Thr)	PRX (A1389T)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1738301	NM_181882.3(PRX):c.4157C>G (p.Pro1386Arg)	PRX (P1386R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 329246	NM_181882.3(PRX):c.4157C>A (p.Pro1386His)	PRX (P1386H)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 more	GUncertain significance
Select item 389318	NM_181882.3(PRX):c.4152G>A (p.Ala1384=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1061285	NM_181882.3(PRX):c.4151C>T (p.Ala1384Val)	PRX (A1384V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 917177	NM_181882.3(PRX):c.4146C>T (p.Gly1382=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GLikely benign
Select item 1738131	NM_181882.3(PRX):c.4139G>A (p.Arg1380His)	PRX (R1380H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 476971	NM_181882.3(PRX):c.4138C>T (p.Arg1380Cys)	PRX (R1380C)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 1636088	NM_181882.3(PRX):c.4134G>A (p.Leu1378=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2623334	NM_181882.3(PRX):c.4133T>C (p.Leu1378Ser)	PRX (L1473S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1089012	NM_181882.3(PRX):c.4131C>A (p.Arg1377=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 645608	NM_181882.3(PRX):c.4119GGTCCG[3] (p.1374VR[3])	PRX	Microsatellite (inframe_insertion +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 583179	NM_181882.3(PRX):c.4130G>A (p.Arg1377His)	PRX (R1377H)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 245902	NM_181882.3(PRX):c.4129C>T (p.Arg1377Cys)	PRX (R1377C)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 2090032	NM_181882.3(PRX):c.4124G>T (p.Arg1375Leu)	PRX (R1470L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1482662	NM_181882.3(PRX):c.4124G>A (p.Arg1375Gln)	PRX (R1375Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1446472	NM_181882.3(PRX):c.4123C>T (p.Arg1375Trp)	PRX (R1375W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1987913	NM_181882.3(PRX):c.4109GCCGGG[3] (p.Arg1373_Val1374insGlyArg)	PRX	Microsatellite (inframe_indel +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 476970	NM_181882.3(PRX):c.4121T>G (p.Val1374Gly)	PRX (V1374G)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 329247	NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln)	PRX (R1373Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 more	GUncertain significance
Select item 1444498	NM_181882.3(PRX):c.4102_4117del (p.Ser1368fs)	PRX (S1368fs)	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 476969	NM_181882.3(PRX):c.4117C>T (p.Arg1373Trp)	PRX (R1373W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

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