"GeneDx"[submitter] AND "HSPB8"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 307414	NM_014365.3(HSPB8):c.-193T>C	HSPB8	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 379936	NM_014365.3(HSPB8):c.-35T>A	HSPB8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 2662969	NM_014365.3(HSPB8):c.52C>G (p.Arg18Gly)	HSPB8 (R18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2661917	NM_014365.3(HSPB8):c.91C>A (p.Leu31Met)	HSPB8 (L31M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371185	NM_014365.3(HSPB8):c.127G>C (p.Asp43His)	HSPB8 (D43H)	Single nucleotide variant (missense variant)	not provided	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 1803504	NM_014365.3(HSPB8):c.143G>A (p.Trp48Ter)	HSPB8 (W48*)	Single nucleotide variant (nonsense)	not provided +1 more	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 513757	NM_014365.3(HSPB8):c.198G>A (p.Ser66=)	HSPB8	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
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 804924	NM_014365.3(HSPB8):c.266dup (p.Pro90fs)	HSPB8 (P90fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 1283233	NM_014365.3(HSPB8):c.367+93G>T	HSPB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196860	NM_014365.3(HSPB8):c.367+305G>A	HSPB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677276	NM_014365.3(HSPB8):c.368-106T>C	HSPB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260402	NM_014365.3(HSPB8):c.402T>C (p.Ile134=)	HSPB8	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 246287	NM_014365.3(HSPB8):c.412A>G (p.Asn138Asp)	HSPB8 (N138D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1243911	NM_014365.3(HSPB8):c.431+83C>T	HSPB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677277	NM_014365.3(HSPB8):c.431+155A>G	HSPB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677278	NM_014365.3(HSPB8):c.431+220C>T	HSPB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211885	NM_014365.3(HSPB8):c.432-196A>G	HSPB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206681	NM_014365.3(HSPB8):c.432-139G>A	HSPB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230411	NM_014365.3(HSPB8):c.432-134G>A	HSPB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382391	NM_014365.3(HSPB8):c.432-16C>T	HSPB8	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GBenign/Likely benign
Select item 464510	NM_014365.3(HSPB8):c.432-10T>A	HSPB8	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1683878	NM_014365.3(HSPB8):c.446T>C (p.Val149Ala)	HSPB8 (V149A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450945	NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys)	HSPB8 (E167K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 533139	NM_014365.3(HSPB8):c.503C>T (p.Ala168Val)	HSPB8 (A168V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 307418	NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln)	HSPB8 (E179Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L +2 more	GBenign
Select item 307419	NM_014365.3(HSPB8):c.552C>T (p.Asn184=)	HSPB8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 582846	NM_014365.3(HSPB8):c.570C>A (p.Ser190Arg)	HSPB8 (S190R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 260403	NM_014365.3(HSPB8):c.582C>T (p.Thr194=)	HSPB8	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2A +3 more	GBenign
Select item 307426	NM_014365.3(HSPB8):c.*644A>G	HSPB8	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 307428	NM_014365.3(HSPB8):c.*684G>A	HSPB8	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 307432	NM_014365.3(HSPB8):c.*848TAA[10]	HSPB8	Microsatellite (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 307431	NM_014365.3(HSPB8):c.*848TAA[9]	HSPB8	Microsatellite (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1279511	NM_014365.3(HSPB8):c.*848TAA[7]	HSPB8	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1225249	NM_014365.3(HSPB8):c.*848TAA[6]	HSPB8	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1706923	NC_000012.12:g.119194797T>C	HSPB8	Single nucleotide variant	not provided	GLikely benign
Select item 1281199	NC_000012.12:g.119194908C>T	HSPB8	Single nucleotide variant	not provided	GBenign
Select item 3360726	NM_014365.3(HSPB8):c.278G>A (p.Gly93Glu)	HSPB8 (G93E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 47