"PreventionGenetics, part of Exact Sciences"[submitter] AND "HSPB1"[ge - ClinVar - NCBI

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Items: 9

	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 axonal type 2F +4 more	GBenign/Likely benign
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 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 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 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 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 382632	NM_001540.5(HSPB1):c.318G>C (p.Pro106=)	HSPB1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 916741	NM_001540.5(HSPB1):c.365-5dup	HSPB1	Duplication (intron variant)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 258164	NM_001540.5(HSPB1):c.*11C>T	HSPB1	Single nucleotide variant (3 prime UTR variant)	not specified +4 more	GBenign