"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "HSPB8"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 567484	NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)	HSPB8 (Q5R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +3 more	GConflicting classifications of pathogenicity
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 880624	NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)	HSPB8 (R55C)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2A +3 more	GUncertain significance
Select item 380971	NM_014365.3(HSPB8):c.233G>T (p.Arg78Met)	HSPB8 (R78M)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2A +4 more	GBenign/Likely benign
Select item 307417	NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg)	HSPB8 (P89R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2618	NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu)	HSPB8	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 533139	NM_014365.3(HSPB8):c.503C>T (p.Ala168Val)	HSPB8 (A168V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GConflicting classifications of pathogenicity
Select item 1153875	NM_014365.3(HSPB8):c.534A>G (p.Gly178=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GLikely benign