FBXO38[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 705

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
Select item 1024303	NM_205836.3(FBXO38):c.1A>G (p.Met1Val)	FBXO38 (M1V)	Single nucleotide variant (missense variant +1 more)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 946497	NM_205836.3(FBXO38):c.4G>A (p.Gly2Arg)	FBXO38 (G2R)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2 +1 more	GUncertain significance
Select item 541015	NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln)	FBXO38 (R4Q)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2D +2 more	GConflicting classifications of pathogenicity
Select item 1719364	NM_205836.3(FBXO38):c.13A>C (p.Lys5Gln)	FBXO38 (K5Q)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1980385	NM_205836.3(FBXO38):c.17A>G (p.Lys6Arg)	FBXO38 (K6R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2039101	NM_205836.3(FBXO38):c.22G>A (p.Val8Met)	FBXO38 (V8M)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 762806	NM_205836.3(FBXO38):c.27A>G (p.Lys9=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1379553	NM_205836.3(FBXO38):c.34A>G (p.Ile12Val)	FBXO38 (I12V)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 2907522	NM_205836.3(FBXO38):c.37A>T (p.Met13Leu)	FBXO38 (M13L)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1739550	NM_205836.3(FBXO38):c.42T>G (p.Asn14Lys)	FBXO38 (N14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1093062	NM_205836.3(FBXO38):c.45T>C (p.Asn15=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 3358464	NM_205836.3(FBXO38):c.51T>G (p.Ile17Met)	FBXO38 (I17M)	Single nucleotide variant (missense variant)	FBXO38-related disorder	GUncertain significance
Select item 541025	NM_205836.3(FBXO38):c.51T>C (p.Ile17=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1124282	NM_205836.3(FBXO38):c.54A>G (p.Pro18=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 809816	NM_205836.3(FBXO38):c.61A>G (p.Met21Val)	FBXO38 (M21V)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2 +1 more	GUncertain significance
Select item 2708291	NM_205836.3(FBXO38):c.62T>C (p.Met21Thr)	FBXO38 (M21T)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 706594	NM_205836.3(FBXO38):c.69A>G (p.Ala23=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 2164801	NM_205836.3(FBXO38):c.71A>G (p.Asp24Gly)	FBXO38 (D24G)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1491278	NM_205836.3(FBXO38):c.86A>G (p.Tyr29Cys)	FBXO38 (Y29C)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 473962	NM_205836.3(FBXO38):c.87T>C (p.Tyr29=)	FBXO38	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1045555	NM_205836.3(FBXO38):c.91A>C (p.Asn31His)	FBXO38 (N31H)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1671752	NM_205836.3(FBXO38):c.117C>T (p.Cys39=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1908401	NM_205836.3(FBXO38):c.128+6A>G	FBXO38	Single nucleotide variant (intron variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1668322	NM_205836.3(FBXO38):c.128+9G>T	FBXO38	Single nucleotide variant (intron variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 2848970	NM_205836.3(FBXO38):c.128+19G>A	FBXO38	Single nucleotide variant (intron variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1237618	NM_205836.3(FBXO38):c.128+195T>G	FBXO38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294580	NM_205836.3(FBXO38):c.128+239T>G	FBXO38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317466	NM_205836.3(FBXO38):c.129-310dup	FBXO38	Duplication (intron variant)	not provided	GLikely benign
Select item 1706282	NM_205836.3(FBXO38):c.129-66A>G	FBXO38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841966	NM_205836.3(FBXO38):c.129-17T>C	FBXO38	Single nucleotide variant (intron variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 2721677	NM_205836.3(FBXO38):c.135C>G (p.Leu45=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1359559	NM_205836.3(FBXO38):c.137C>T (p.Pro46Leu)	FBXO38 (P46L)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1028903	NM_205836.3(FBXO38):c.155G>A (p.Cys52Tyr)	FBXO38 (C52Y)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2D	GUncertain significance
Select item 2098443	NM_205836.3(FBXO38):c.157A>T (p.Met53Leu)	FBXO38 (M53L)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1693902	NM_205836.3(FBXO38):c.157A>G (p.Met53Val)	FBXO38 (M53V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2999220	NM_205836.3(FBXO38):c.172C>T (p.Arg58Trp)	FBXO38 (R58W)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1932794	NM_205836.3(FBXO38):c.173G>T (p.Arg58Leu)	FBXO38 (R58L)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1488978	NM_205836.3(FBXO38):c.173G>A (p.Arg58Gln)	FBXO38 (R58Q)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1985298	NM_205836.3(FBXO38):c.183G>T (p.Lys61Asn)	FBXO38 (K61N)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1519218	NM_205836.3(FBXO38):c.188C>T (p.Ala63Val)	FBXO38 (A63V)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 2326533	NM_205836.3(FBXO38):c.190G>A (p.Val64Met)	FBXO38 (V64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1100793	NM_205836.3(FBXO38):c.192G>A (p.Val64=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 2850397	NM_205836.3(FBXO38):c.193A>G (p.Thr65Ala)	FBXO38 (T65A)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 473951	NM_205836.3(FBXO38):c.198A>G (p.Leu66=)	FBXO38	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1015340	NM_205836.3(FBXO38):c.199T>A (p.Tyr67Asn)	FBXO38 (Y67N)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1352158	NM_205836.3(FBXO38):c.206G>A (p.Arg69Gln)	FBXO38 (R69Q)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 2829057	NM_205836.3(FBXO38):c.209T>C (p.Val70Ala)	FBXO38 (V70A)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1636371	NM_205836.3(FBXO38):c.216A>G (p.Arg72=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1023704	NM_205836.3(FBXO38):c.218_247del (p.Val73_Trp82del)	FBXO38	Deletion (inframe_deletion)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 2717846	NM_205836.3(FBXO38):c.228C>T (p.Leu76=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1541513	NM_205836.3(FBXO38):c.234A>G (p.Ala78=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 2200029	NM_205836.3(FBXO38):c.238C>T (p.Arg80Trp)	FBXO38 (R80W)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 473955	NM_205836.3(FBXO38):c.239G>A (p.Arg80Gln)	FBXO38 (R80Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2756418	NM_205836.3(FBXO38):c.247G>A (p.Glu83Lys)	FBXO38 (E83K)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 2886004	NM_205836.3(FBXO38):c.261T>A (p.Ser87Arg)	FBXO38 (S87R)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1103754	NM_205836.3(FBXO38):c.262+7G>A	FBXO38	Single nucleotide variant (intron variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1294998	NM_205836.3(FBXO38):c.262+223G>A	FBXO38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327222	NM_205836.3(FBXO38):c.263-319A>G	FBXO38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917422	NM_205836.3(FBXO38):c.263-13C>G	FBXO38	Single nucleotide variant (intron variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1088081	NM_205836.3(FBXO38):c.263-8C>T	FBXO38	Single nucleotide variant (intron variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 2120087	NM_205836.3(FBXO38):c.274G>T (p.Ala92Ser)	FBXO38 (A92S)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 640185	NM_205836.3(FBXO38):c.286A>G (p.Thr96Ala)	FBXO38 (T96A)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 541031	NM_205836.3(FBXO38):c.291A>G (p.Leu97=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 2895996	NM_205836.3(FBXO38):c.310G>A (p.Val104Ile)	FBXO38 (V104I)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1505800	NM_205836.3(FBXO38):c.326G>A (p.Gly109Asp)	FBXO38 (G109D)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 2128338	NM_205836.3(FBXO38):c.333C>T (p.His111=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 565670	NM_205836.3(FBXO38):c.337C>T (p.Arg113Ter)	FBXO38 (R113*)	Single nucleotide variant (nonsense)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1375158	NM_205836.3(FBXO38):c.338G>A (p.Arg113Gln)	FBXO38 (R113Q)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 572073	NM_205836.3(FBXO38):c.340T>C (p.Tyr114His)	FBXO38 (Y114H)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 939027	NM_205836.3(FBXO38):c.341A>G (p.Tyr114Cys)	FBXO38 (Y114C)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 2102199	NM_205836.3(FBXO38):c.345T>G (p.Leu115=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1523775	NM_205836.3(FBXO38):c.358G>T (p.Val120Leu)	FBXO38 (V120L)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 2196298	NM_205836.3(FBXO38):c.373G>A (p.Ala125Thr)	FBXO38 (A125T)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2 +1 more	GUncertain significance
Select item 2882980	NM_205836.3(FBXO38):c.376T>C (p.Phe126Leu)	FBXO38 (F126L)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 2028199	NM_205836.3(FBXO38):c.396A>G (p.Leu132=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 2764751	NM_205836.3(FBXO38):c.405G>T (p.Leu135Phe)	FBXO38 (L135F)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 645520	NM_205836.3(FBXO38):c.409G>A (p.Ala137Thr)	FBXO38 (A137T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1257849	NM_205836.3(FBXO38):c.426+24T>G	FBXO38	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2148914	NM_205836.3(FBXO38):c.427-18T>C	FBXO38	Single nucleotide variant (intron variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1643687	NM_205836.3(FBXO38):c.432G>A (p.Val144=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1158383	NM_205836.3(FBXO38):c.438T>C (p.Thr146=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 2915553	NM_205836.3(FBXO38):c.448G>A (p.Glu150Lys)	FBXO38 (E150K)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1634068	NM_205836.3(FBXO38):c.451T>C (p.Leu151=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 541029	NM_205836.3(FBXO38):c.456A>G (p.Val152=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1151851	NM_205836.3(FBXO38):c.465T>C (p.Ile155=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 2759723	NM_205836.3(FBXO38):c.473dup (p.Tyr158Ter)	FBXO38 (Y158*)	Duplication (nonsense)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1467078	NM_205836.3(FBXO38):c.474T>A (p.Tyr158Ter)	FBXO38 (Y158*)	Single nucleotide variant (nonsense)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1078597	NM_205836.3(FBXO38):c.474T>C (p.Tyr158=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GLikely benign
Select item 1742878	NM_205836.3(FBXO38):c.475A>G (p.Met159Val)	FBXO38 (M159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2075679	NM_205836.3(FBXO38):c.481C>T (p.His161Tyr)	FBXO38 (H161Y)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1449843	NM_205836.3(FBXO38):c.484G>T (p.Val162Phe)	FBXO38 (V162F)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1396751	NM_205836.3(FBXO38):c.497G>A (p.Gly166Glu)	FBXO38 (G166E)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 1165905	NM_205836.3(FBXO38):c.504T>C (p.Phe168=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2	GBenign
Select item 2838680	NM_205836.3(FBXO38):c.505C>T (p.Arg169Cys)	FBXO38 (R169C)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2	GUncertain significance
Select item 842631	NM_205836.3(FBXO38):c.506G>A (p.Arg169His)	FBXO38 (R169H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

<< First< Prev

Page of 8