"Molecular Genetics Laboratory, London Health Sciences Centre"[submitt - ClinVar

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

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258165	NM_001540.5(HSPB1):c.-19C>T	HSPB1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease +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 193215	NM_001540.5(HSPB1):c.9G>A (p.Glu3=)	HSPB1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 245625	NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)	HSPB1 (R27P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
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 533814	NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)	HSPB1 (P39L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GPathogenic
Select item 917325	NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)	HSPB1 (W51*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2F +2 more	GConflicting classifications of pathogenicity
Select item 239028	NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)	HSPB1 (P60S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
Select item 917324	NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp)	HSPB1 (R79W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GBenign
Select item 220419	NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)	HSPB1 (G84R)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2 +5 more	GPathogenic/Likely pathogenic
Select item 432537	NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn)	HSPB1 (D93N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 916735	NM_001540.5(HSPB1):c.349G>A (p.Val117Met)	HSPB1 (V117M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 581650	NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)	HSPB1 (G122S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 447529	NM_001540.5(HSPB1):c.364+6C>G	HSPB1	Single nucleotide variant (intron variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 916736	NM_001540.5(HSPB1):c.364+9_364+20del	HSPB1	Deletion (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 916741	NM_001540.5(HSPB1):c.365-5dup	HSPB1	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GBenign/Likely benign
Select item 465272	NM_001540.5(HSPB1):c.365-7C>G	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2F +2 more	GLikely benign
Select item 533816	NM_001540.5(HSPB1):c.365-6C>G	HSPB1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 2B +2 more	GConflicting classifications of pathogenicity
Select item 917326	NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr)	HSPB1 (K123T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 465273	NM_001540.5(HSPB1):c.372C>G (p.His124Gln)	HSPB1 (H124Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 157529	NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)	HSPB1 (R127L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GPathogenic/Likely pathogenic
Select item 360738	NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)	HSPB1 (Q128R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +3 more	GConflicting classifications of pathogenicity
Select item 217230	NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)	HSPB1 (R136L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +3 more	GPathogenic
Select item 7484	NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)	HSPB1 (R140G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GPathogenic
Select item 916738	NM_001540.5(HSPB1):c.428+13G>T	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 7480	NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)	HSPB1 (T151I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GPathogenic/Likely pathogenic
Select item 239029	NM_001540.5(HSPB1):c.567C>T (p.Ala189=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F +3 more	GBenign/Likely benign
Select item 503828	NM_001540.5(HSPB1):c.572_584del (p.Leu191fs)	HSPB1 (L191fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 385089	NM_001540.5(HSPB1):c.573T>C (p.Leu191=)	HSPB1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 216545	NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)	HSPB1 (A204T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 258164	NM_001540.5(HSPB1):c.*11C>T	HSPB1	Single nucleotide variant (3 prime UTR variant)	not specified +4 more	GBenign
Select item 916739	NM_001540.5(HSPB1):c.*20A>C	HSPB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34