HSPB1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 408

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 1178372	NC_000007.14:g.76302359C>T	HSPB1	Single nucleotide variant	not provided	GLikely benign
Select item 1197939	NC_000007.14:g.76302412G>C	HSPB1	Single nucleotide variant	not provided	GLikely benign
Select item 583803	NC_000007.13:g.(?_75931813)_(75933510_?)dup	HSPB1	Duplication	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 360733	NM_001540.4(HSPB1):c.-129G>T	HSPB1	Single nucleotide variant	Neuronopathy, distal hereditary motor, type 2B +1 more	GUncertain significance
Select item 360734	NM_001540.4(HSPB1):c.-122G>T	HSPB1	Single nucleotide variant	Neuronopathy, distal hereditary motor, type 2B +2 more	GConflicting classifications of pathogenicity
Select item 911771	NM_001540.4(HSPB1):c.-56C>T	HSPB1	Single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2F +2 more	GBenign/Likely benign
Select item 360735	NM_001540.4(HSPB1):c.-46C>T	HSPB1	Single nucleotide variant	not provided +2 more	GBenign
Select item 258165	NM_001540.5(HSPB1):c.-19C>T	HSPB1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2F +4 more	GBenign/Likely benign
Select item 381810	NM_001540.5(HSPB1):c.-15G>A	HSPB1	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 916737	NM_001540.5(HSPB1):c.-5C>T	HSPB1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 360736	NM_001540.5(HSPB1):c.-4C>T	HSPB1	Single nucleotide variant (5 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2B +2 more	GConflicting classifications of pathogenicity
Select item 935489	NM_001540.5(HSPB1):c.1A>C (p.Met1Leu)	HSPB1 (M1L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1784219	NM_001540.5(HSPB1):c.2_3inv (p.Met1Thr)	HSPB1 (M1T)	Inversion (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 934124	NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)	HSPB1 (M1I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1761601	NM_001540.5(HSPB1):c.7G>C (p.Glu3Gln)	HSPB1 (E3Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1042309	NM_001540.5(HSPB1):c.7G>A (p.Glu3Lys)	HSPB1 (E3K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 193215	NM_001540.5(HSPB1):c.9G>A (p.Glu3=)	HSPB1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 2894071	NM_001540.5(HSPB1):c.11G>A (p.Arg4His)	HSPB1 (R4H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2879581	NM_001540.5(HSPB1):c.16G>T (p.Val6Phe)	HSPB1 (V6F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 410715	NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)	HSPB1 (V6I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 650957	NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)	HSPB1 (V6A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2992059	NM_001540.5(HSPB1):c.18C>G (p.Val6=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2684230	NM_001540.5(HSPB1):c.19C>G (p.Pro7Ala)	HSPB1 (P7A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560407	NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser)	HSPB1 (P7S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GConflicting classifications of pathogenicity
Select item 586026	NM_001540.5(HSPB1):c.20C>T (p.Pro7Leu)	HSPB1 (P7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 581452	NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg)	HSPB1 (P7R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely pathogenic
Select item 1154634	NM_001540.5(HSPB1):c.21C>T (p.Pro7=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 258166	NM_001540.5(HSPB1):c.24C>T (p.Phe8=)	HSPB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1107982	NM_001540.5(HSPB1):c.27G>T (p.Ser9=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 465270	NM_001540.5(HSPB1):c.29T>A (p.Leu10His)	HSPB1 (L10H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 1570864	NM_001540.5(HSPB1):c.33G>C (p.Leu11=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 377969	NM_001540.5(HSPB1):c.36G>T (p.Arg12=)	HSPB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 570184	NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser)	HSPB1 (G13S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1158035	NM_001540.5(HSPB1):c.39C>T (p.Gly13=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2057093	NM_001540.5(HSPB1):c.40C>T (p.Pro14Ser)	HSPB1 (P14S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1741034	NM_001540.5(HSPB1):c.44G>A (p.Ser15Asn)	HSPB1 (S15N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1657175	NM_001540.5(HSPB1):c.45C>T (p.Ser15=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 523077	NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg)	HSPB1 (S15R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1060678	NM_001540.5(HSPB1):c.47G>A (p.Trp16Ter)	HSPB1 (W16*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1052458	NM_001540.5(HSPB1):c.52C>T (p.Pro18Ser)	HSPB1 (P18S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1014268	NM_001540.5(HSPB1):c.52C>A (p.Pro18Thr)	HSPB1 (P18T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1750378	NM_001540.5(HSPB1):c.58C>A (p.Arg20Ser)	HSPB1 (R20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 908808	NM_001540.5(HSPB1):c.60C>T (p.Arg20=)	HSPB1	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2B +1 more	GUncertain significance
Select item 1378900	NM_001540.5(HSPB1):c.66G>C (p.Trp22Cys)	HSPB1 (W22C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1017961	NM_001540.5(HSPB1):c.70C>A (p.Pro24Thr)	HSPB1 (P24T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1062122	NM_001540.5(HSPB1):c.74_95dup (p.Ala32_Phe33insTer)	HSPB1	Duplication (nonsense +1 more)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2980791	NM_001540.5(HSPB1):c.75T>C (p.His25=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2141013	NM_001540.5(HSPB1):c.75T>G (p.His25Gln)	HSPB1 (H25Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3107366	NM_001540.5(HSPB1):c.77G>A (p.Ser26Asn)	HSPB1 (S26N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107367	NM_001540.5(HSPB1):c.78C>A (p.Ser26Arg)	HSPB1 (S26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2142404	NM_001540.5(HSPB1):c.80G>A (p.Arg27His)	HSPB1 (R27H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 643281	NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)	HSPB1 (R27L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 245625	NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)	HSPB1 (R27P)	Single nucleotide variant (missense variant)	HSPB1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 507783	NM_001540.5(HSPB1):c.84C>T (p.Leu28=)	HSPB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 862918	NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)	HSPB1 (D30A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1352864	NM_001540.5(HSPB1):c.91C>G (p.Gln31Glu)	HSPB1 (Q31E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2759796	NM_001540.5(HSPB1):c.94G>T (p.Ala32Ser)	HSPB1 (A32S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2786447	NM_001540.5(HSPB1):c.95C>A (p.Ala32Asp)	HSPB1 (A32D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1767522	NM_001540.5(HSPB1):c.95C>T (p.Ala32Val)	HSPB1 (A32V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 220380	NM_001540.5(HSPB1):c.99C>T (p.Phe33=)	HSPB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 637256	NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg)	HSPB1 (G34R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 909658	NM_001540.5(HSPB1):c.108C>G (p.Pro36=)	HSPB1	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2B +1 more	GBenign/Likely benign
Select item 2737686	NM_001540.5(HSPB1):c.109C>T (p.Arg37Trp)	HSPB1 (R37W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 916740	NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro)	HSPB1 (R37P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 2896217	NM_001540.5(HSPB1):c.112C>A (p.Leu38Met)	HSPB1 (L38M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2884503	NM_001540.5(HSPB1):c.116C>G (p.Pro39Arg)	HSPB1 (P39R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely pathogenic
Select item 533814	NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)	HSPB1 (P39L)	Single nucleotide variant (missense variant)	HSPB1-related axonal neuropathies +5 more	GPathogenic
Select item 1256080	NM_001540.5(HSPB1):c.117G>A (p.Pro39=)	HSPB1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2807132	NM_001540.5(HSPB1):c.118G>T (p.Glu40Ter)	HSPB1 (E40*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2198218	NM_001540.5(HSPB1):c.119A>T (p.Glu40Val)	HSPB1 (E40V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3020856	NM_001540.5(HSPB1):c.120G>A (p.Glu40=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 1163280	NM_001540.5(HSPB1):c.128_136dup (p.Ser43_Trp45dup)	HSPB1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 637257	NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys)	HSPB1 (E41K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1930566	NM_001540.5(HSPB1):c.123G>A (p.Glu41=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 3107363	NM_001540.5(HSPB1):c.124_125insTC (p.Trp42fs)	HSPB1 (W42fs)	Insertion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 986844	NM_001540.5(HSPB1):c.126G>A (p.Trp42Ter)	HSPB1 (W42*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 864139	NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro)	HSPB1 (S43P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1507511	NM_001540.5(HSPB1):c.128C>G (p.Ser43Trp)	HSPB1 (S43W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 763224	NM_001540.5(HSPB1):c.129G>A (p.Ser43=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 1036973	NM_001540.5(HSPB1):c.134G>A (p.Trp45Ter)	HSPB1 (W45*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2720867	NM_001540.5(HSPB1):c.136T>G (p.Leu46Val)	HSPB1 (L46V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 695518	NM_001540.5(HSPB1):c.138A>G (p.Leu46=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 465266	NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser)	HSPB1 (G47S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 447527	NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser)	HSPB1 (G48S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +2 more	GUncertain significance
Select item 2814820	NM_001540.5(HSPB1):c.144C>T (p.Gly48=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2763253	NM_001540.5(HSPB1):c.144C>A (p.Gly48=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 958556	NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile)	HSPB1 (S50I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +2 more	GUncertain significance

<< First< Prev

Page of 5