HSPB8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 1261712	NC_000012.12:g.119178480T>C	HSPB8	Single nucleotide variant	not provided	GBenign
Select item 1253779	NC_000012.12:g.119178591A>G	HSPB8	Single nucleotide variant	not provided	GBenign
Select item 881961	NM_014365.2(HSPB8):c.-522C>G	HSPB8	Single nucleotide variant	Neuronopathy, distal hereditary motor, type 2A +1 more	GUncertain significance
Select item 307409	NM_014365.2(HSPB8):c.-489G>A	HSPB8	Single nucleotide variant	Neuronopathy, distal hereditary motor, type 2A +1 more	GUncertain significance
Select item 307410	NM_014365.2(HSPB8):c.-480C>G	HSPB8	Single nucleotide variant	Neuronopathy, distal hereditary motor, type 2A +1 more	GUncertain significance
Select item 307411	NM_014365.2(HSPB8):c.-457A>G	HSPB8	Single nucleotide variant	Neuronopathy, distal hereditary motor, type 2A +1 more	GBenign
Select item 883131	NM_014365.2(HSPB8):c.-419A>T	HSPB8	Single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 307412	NM_014365.3(HSPB8):c.-314T>C	HSPB8	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 307413	NM_014365.3(HSPB8):c.-201G>T	HSPB8	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 307414	NM_014365.3(HSPB8):c.-193T>C	HSPB8	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 307415	NM_014365.3(HSPB8):c.-172G>C	HSPB8	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 379936	NM_014365.3(HSPB8):c.-35T>A	HSPB8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 464511	NM_014365.3(HSPB8):c.9C>G (p.Asp3Glu)	HSPB8 (D3E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 834392	NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser)	HSPB8 (G4S)	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 567484	NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)	HSPB8 (Q5R)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 1048978	NM_014365.3(HSPB8):c.17T>C (p.Met6Thr)	HSPB8 (M6T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1155355	NM_014365.3(HSPB8):c.21C>A (p.Pro7=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 694838	NM_014365.3(HSPB8):c.25T>C (p.Ser9Pro)	HSPB8 (S9P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
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 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 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 234519	NM_014365.3(HSPB8):c.32A>G (p.His11Arg)	HSPB8 (H11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 934552	NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys)	HSPB8 (R15C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	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 1080519	NM_014365.3(HSPB8):c.45C>T (p.Arg15=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 950146	NM_014365.3(HSPB8):c.47T>G (p.Leu16Arg)	HSPB8 (L16R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 307416	NM_014365.3(HSPB8):c.48G>A (p.Leu16=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L +2 more	GBenign/Likely benign
Select item 1019441	NM_014365.3(HSPB8):c.49C>T (p.Arg17Cys)	HSPB8 (R17C)	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 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 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 2662969	NM_014365.3(HSPB8):c.52C>G (p.Arg18Gly)	HSPB8 (R18G)	Single nucleotide variant (missense variant)	not provided	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 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 581856	NM_014365.3(HSPB8):c.65G>A (p.Arg22Gln)	HSPB8 (R22Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1100165	NM_014365.3(HSPB8):c.81C>T (p.Ser27=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 943916	NM_014365.3(HSPB8):c.85C>T (p.Arg29Cys)	HSPB8 (R29C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 858430	NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser)	HSPB8 (R29S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	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 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 1105906	NM_014365.3(HSPB8):c.88C>T (p.Leu30=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
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 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 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 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 855097	NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu)	HSPB8 (D38E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +2 more	GConflicting classifications of pathogenicity
Select item 240906	NM_014365.3(HSPB8):c.116C>T (p.Pro39Leu)	HSPB8 (P39L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
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 447532	NM_014365.3(HSPB8):c.125A>G (p.Asp42Gly)	HSPB8 (D42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 847769	NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn)	HSPB8 (D43N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1054940	NM_014365.3(HSPB8):c.134C>G (p.Thr45Arg)	HSPB8 (T45R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 957888	NM_014365.3(HSPB8):c.137C>A (p.Ala46Asp)	HSPB8 (A46D)	Single nucleotide variant (missense variant)	not provided +1 more	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 811267	NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys)	HSPB8 (S47C)	Single nucleotide variant (missense variant)	not specified +1 more	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 1803504	NM_014365.3(HSPB8):c.143G>A (p.Trp48Ter)	HSPB8 (W48*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
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 1256223	NM_014365.3(HSPB8):c.147C>T (p.Pro49=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GBenign/Likely benign
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 1020904	NM_014365.3(HSPB8):c.149A>T (p.Asp50Val)	HSPB8 (D50V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	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 451968	NM_014365.3(HSPB8):c.155C>A (p.Ala52Asp)	HSPB8 (A52D)	Single nucleotide variant (missense variant)	not provided	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 880624	NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)	HSPB8 (R55C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 570529	NM_014365.3(HSPB8):c.164G>A (p.Arg55His)	HSPB8 (R55H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	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 696431	NM_014365.3(HSPB8):c.171C>T (p.Ser57=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GBenign
Select item 838349	NM_014365.3(HSPB8):c.174C>A (p.Ser58=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 790226	NM_014365.3(HSPB8):c.174C>T (p.Ser58=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
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 971620	NM_014365.3(HSPB8):c.184_185del (p.Gly62fs)	HSPB8 (G62fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
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 1014121	NM_014365.3(HSPB8):c.188C>T (p.Thr63Ile)	HSPB8 (T63I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 1077289	NM_014365.3(HSPB8):c.193A>C (p.Arg65=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L	GLikely benign
Select item 572514	NM_014365.3(HSPB8):c.194G>A (p.Arg65Lys)	HSPB8 (R65K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 513757	NM_014365.3(HSPB8):c.198G>A (p.Ser66=)	HSPB8	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 642253	NM_014365.3(HSPB8):c.200G>T (p.Gly67Val)	HSPB8 (G67V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 566437	NM_014365.3(HSPB8):c.201C>T (p.Gly67=)	HSPB8	Single nucleotide variant (synonymous 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 585123	NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser)	HSPB8 (P70S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	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 464508	NM_014365.3(HSPB8):c.210C>T (p.Pro70=)	HSPB8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 968767	NM_014365.3(HSPB8):c.211C>T (p.Arg71Trp)	HSPB8 (R71W)	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 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 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 3107379	NM_014365.3(HSPB8):c.227C>T (p.Thr76Ile)	HSPB8 (T76I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 972318	NM_014365.3(HSPB8):c.229G>A (p.Ala77Thr)	HSPB8 (A77T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 804923	NM_014365.3(HSPB8):c.229G>T (p.Ala77Ser)	HSPB8 (A77S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380971	NM_014365.3(HSPB8):c.233G>T (p.Arg78Met)	HSPB8 (R78M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
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 935165	NM_014365.3(HSPB8):c.241G>A (p.Val81Met)	HSPB8 (V81M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance

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