ClinVar for Gene (Select 26353) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360726	NM_014365.3(HSPB8):c.278G>A (p.Gly93Glu)	HSPB8 (G93E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353249	NM_014365.3(HSPB8):c.475T>A (p.Ser159Thr)	HSPB8 (S159T)	Single nucleotide variant (missense variant)	HSPB8-related disorder	GUncertain significance
Select item 3284964	NM_014365.3(HSPB8):c.509A>C (p.Gln170Pro)	HSPB8 (Q170P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107379	NM_014365.3(HSPB8):c.227C>T (p.Thr76Ile)	HSPB8 (T76I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 3036743	NM_014365.3(HSPB8):c.297T>C (p.Cys99=)	HSPB8	Single nucleotide variant (synonymous variant)	HSPB8-related disorder	GLikely benign
Select item 3030400	NM_014365.3(HSPB8):c.*881C>T	HSPB8	Single nucleotide variant (3 prime UTR variant)	HSPB8-related disorder	GLikely benign
Select item 3015421	NM_014365.3(HSPB8):c.388C>G (p.Gln130Glu)	HSPB8 (Q130E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 3013847	NM_014365.3(HSPB8):c.27_28delinsGG (p.Cys10Gly)	HSPB8 (C10G)	Indel (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2977685	NM_014365.3(HSPB8):c.364T>C (p.Ser122Pro)	HSPB8 (S122P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2961064	NM_014365.3(HSPB8):c.87C>A (p.Arg29=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2900907	NM_014365.3(HSPB8):c.273C>T (p.Phe91=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2899367	NM_014365.3(HSPB8):c.498C>T (p.Ile166=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2889280	NM_014365.3(HSPB8):c.483G>A (p.Glu161=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2871403	NM_014365.3(HSPB8):c.511G>A (p.Val171Ile)	HSPB8 (V171I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2867650	NM_014365.3(HSPB8):c.228C>A (p.Thr76=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2865308	NM_014365.3(HSPB8):c.510G>C (p.Gln170His)	HSPB8 (Q170H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2856907	NM_014365.3(HSPB8):c.50G>C (p.Arg17Pro)	HSPB8 (R17P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2839390	NM_014365.3(HSPB8):c.95A>G (p.Asp32Gly)	HSPB8 (D32G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2820619	NM_014365.3(HSPB8):c.210C>A (p.Pro70=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2804231	NM_014365.3(HSPB8):c.26C>T (p.Ser9Phe)	HSPB8 (S9F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2786234	NM_014365.3(HSPB8):c.501A>G (p.Glu167=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2768507	NM_014365.3(HSPB8):c.185G>A (p.Gly62Asp)	HSPB8 (G62D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2763892	NM_014365.3(HSPB8):c.215G>A (p.Gly72Asp)	HSPB8 (G72D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2743073	NM_014365.3(HSPB8):c.431+14A>T	HSPB8	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2742361	NM_014365.3(HSPB8):c.32A>C (p.His11Pro)	HSPB8 (H11P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2723033	NM_014365.3(HSPB8):c.166C>A (p.Leu56Ile)	HSPB8 (L56I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2718584	NM_014365.3(HSPB8):c.312C>T (p.Ser104=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2712641	NM_014365.3(HSPB8):c.431+8A>G	HSPB8	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2708328	NM_014365.3(HSPB8):c.523T>C (p.Ser175Pro)	HSPB8 (S175P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2694539	NM_014365.3(HSPB8):c.239G>C (p.Gly80Ala)	HSPB8 (G80A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2662969	NM_014365.3(HSPB8):c.52C>G (p.Arg18Gly)	HSPB8 (R18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661917	NM_014365.3(HSPB8):c.91C>A (p.Leu31Met)	HSPB8 (L31M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432542	NM_014365.3(HSPB8):c.539G>A (p.Ser180Asn)	HSPB8 (S180N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425950	NC_000012.11:g.(?_119631484)_(119631663_?)dup	HSPB8	Duplication	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2425949	NC_000012.11:g.(?_119617118)_(119624913_?)dup	HSPB8	Duplication	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2425948	NC_000012.11:g.(?_119624810)_(119624913_?)del	HSPB8	Deletion	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2269020	NM_014365.3(HSPB8):c.157C>G (p.Leu53Val)	HSPB8 (L53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264612	NM_014365.3(HSPB8):c.527C>A (p.Thr176Lys)	HSPB8 (T176K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201804	NM_014365.3(HSPB8):c.431+14A>C	HSPB8	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2176265	NM_014365.3(HSPB8):c.508C>A (p.Gln170Lys)	HSPB8 (Q170K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2176161	NM_014365.3(HSPB8):c.581C>A (p.Thr194Asn)	HSPB8 (T194N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2174596	NM_014365.3(HSPB8):c.243G>A (p.Val81=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2160895	NM_014365.3(HSPB8):c.540C>G (p.Ser180Arg)	HSPB8 (S180R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2154725	NM_014365.3(HSPB8):c.228C>T (p.Thr76=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2145889	NM_014365.3(HSPB8):c.317A>G (p.Lys106Arg)	HSPB8 (K106R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2113777	NM_014365.3(HSPB8):c.351A>T (p.Gly117=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2081257	NM_014365.3(HSPB8):c.281A>G (p.Glu94Gly)	HSPB8 (E94G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2038841	NM_014365.3(HSPB8):c.95A>C (p.Asp32Ala)	HSPB8 (D32A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 2033560	NM_014365.3(HSPB8):c.372A>G (p.Lys124=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2026936	NM_014365.3(HSPB8):c.39A>G (p.Pro13=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2011319	NM_014365.3(HSPB8):c.432-8T>C	HSPB8	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 2006912	NM_014365.3(HSPB8):c.218C>T (p.Pro73Leu)	HSPB8 (P73L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1991832	NM_014365.3(HSPB8):c.432-15G>A	HSPB8	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 1986098	NM_014365.3(HSPB8):c.566A>G (p.Asp189Gly)	HSPB8 (D189G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1984126	NM_014365.3(HSPB8):c.439G>A (p.Ala147Thr)	HSPB8 (A147T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1976676	NM_014365.3(HSPB8):c.204G>A (p.Met68Ile)	HSPB8 (M68I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1966461	NM_014365.3(HSPB8):c.51C>T (p.Arg17=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 1956927	NM_014365.3(HSPB8):c.266del (p.Pro89fs)	HSPB8 (P89fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1930560	NM_014365.3(HSPB8):c.432-10T>C	HSPB8	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1899845	NM_014365.3(HSPB8):c.50G>A (p.Arg17His)	HSPB8 (R17H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1897842	NM_014365.3(HSPB8):c.86G>A (p.Arg29His)	HSPB8 (R29H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1806992	NM_014365.3(HSPB8):c.175G>A (p.Ala59Thr)	HSPB8 (A59T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806991	NM_014365.3(HSPB8):c.138C>T (p.Ala46=)	HSPB8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1805628	NM_014365.3(HSPB8):c.508del (p.Gln170fs)	HSPB8 (Q170fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2L	GPathogenic
Select item 1803504	NM_014365.3(HSPB8):c.143G>A (p.Trp48Ter)	HSPB8 (W48*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1793776	NM_014365.3(HSPB8):c.260C>T (p.Thr87Ile)	HSPB8 (T87I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1773750	NM_014365.3(HSPB8):c.148G>A (p.Asp50Asn)	HSPB8 (D50N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 1739613	NM_014365.3(HSPB8):c.430C>G (p.Gln144Glu)	HSPB8 (Q144E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 1735662	NM_014365.3(HSPB8):c.386A>C (p.Gln129Pro)	HSPB8 (Q129P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1732564	NM_014365.3(HSPB8):c.354C>G (p.Tyr118Ter)	HSPB8 (Y118*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 1709856	NM_014365.3(HSPB8):c.508_509del (p.Gln170fs)	HSPB8 (Q170fs)	Deletion (frameshift variant)	Myopathy, autophagic vacuolar, infantile-onset +1 more	GPathogenic/Likely pathogenic
Select item 1706923	NC_000012.12:g.119194797T>C	HSPB8	Single nucleotide variant	not provided	GLikely benign
Select item 1683878	NM_014365.3(HSPB8):c.446T>C (p.Val149Ala)	HSPB8 (V149A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670015	NM_014365.3(HSPB8):c.264C>A (p.Pro88=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 1636369	NM_014365.3(HSPB8):c.431+15G>A	HSPB8	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 1592220	NM_014365.3(HSPB8):c.367+18G>A	HSPB8	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 1561083	NM_014365.3(HSPB8):c.431+19T>C	HSPB8	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 1560530	NM_014365.3(HSPB8):c.93G>C (p.Leu31=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 1556518	NM_014365.3(HSPB8):c.147C>G (p.Pro49=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1513303	NM_014365.3(HSPB8):c.518C>T (p.Pro173Leu)	HSPB8 (P173L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1498635	NM_014365.3(HSPB8):c.374A>G (p.His125Arg)	HSPB8 (H125R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1450811	NM_014365.3(HSPB8):c.52C>T (p.Arg18Ter)	HSPB8 (R18*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1425385	NM_014365.3(HSPB8):c.559C>T (p.Pro187Ser)	HSPB8 (P187S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1423219	NM_014365.3(HSPB8):c.255C>T (p.Gly85=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 1415772	NM_014365.3(HSPB8):c.121C>T (p.Pro41Ser)	HSPB8 (P41S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1402294	NM_014365.3(HSPB8):c.397G>A (p.Gly133Ser)	HSPB8 (G133S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1398834	NM_014365.3(HSPB8):c.11G>A (p.Gly4Asp)	HSPB8 (G4D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1388452	NM_014365.3(HSPB8):c.212G>A (p.Arg71Gln)	HSPB8 (R71Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1385402	NM_014365.3(HSPB8):c.391G>A (p.Glu131Lys)	HSPB8 (E131K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1368257	NM_014365.3(HSPB8):c.142T>C (p.Trp48Arg)	HSPB8 (W48R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1365569	NM_014365.3(HSPB8):c.150C>A (p.Asp50Glu)	HSPB8 (D50E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1365464	NM_014365.3(HSPB8):c.451C>T (p.Pro151Ser)	HSPB8 (P151S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1359615	NM_014365.3(HSPB8):c.479C>T (p.Pro160Leu)	HSPB8 (P160L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 1356495	NM_014365.3(HSPB8):c.44G>A (p.Arg15His)	HSPB8 (R15H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1351461	NM_014365.3(HSPB8):c.58C>T (p.Pro20Ser)	HSPB8 (P20S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1283233	NM_014365.3(HSPB8):c.367+93G>T	HSPB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281199	NC_000012.12:g.119194908C>T	HSPB8	Single nucleotide variant	not provided	GBenign

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