HSPB3[Gene Name] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 153338	GRCh38/hg38 5q11.2(chr5:53969356-54618645)x3	ARL15, HSPB3 +7 more	Copy number gain	See cases	GLikely benign
Select item 1280164	NC_000005.10:g.54455256A>G	HSPB3	Single nucleotide variant	not provided	GBenign
Select item 1236658	NC_000005.10:g.54455412C>T	HSPB3	Single nucleotide variant	not provided	GBenign
Select item 1242746	NC_000005.10:g.54455434A>G	HSPB3	Single nucleotide variant	not provided	GBenign
Select item 1293443	NC_000005.10:g.54455555dup	HSPB3	Duplication	not provided	GBenign
Select item 353894	NM_006308.2(HSPB3):c.-136G>A	HSPB3	Single nucleotide variant	Distal spinal muscular atrophy	GUncertain significance
Select item 353895	NM_006308.2(HSPB3):c.-129C>T	HSPB3	Single nucleotide variant	Distal spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 353896	NM_006308.3(HSPB3):c.-89T>C	HSPB3	Single nucleotide variant (5 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 906391	NM_006308.3(HSPB3):c.-67C>T	HSPB3	Single nucleotide variant (5 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 906392	NM_006308.3(HSPB3):c.-17C>A	HSPB3	Single nucleotide variant (5 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 488693	NM_006308.3(HSPB3):c.1A>G (p.Met1Val)	HSPB3 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1019333	NM_006308.3(HSPB3):c.2T>C (p.Met1Thr)	HSPB3 (M1T)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 5429	NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser)	HSPB3 (R7S)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C +1 more	GLikely benign
Select item 2037449	NM_006308.3(HSPB3):c.25C>T (p.Leu9Phe)	HSPB3 (L9F)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 1359519	NM_006308.3(HSPB3):c.37C>T (p.Pro13Ser)	HSPB3 (P13S)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 1162971	NM_006308.3(HSPB3):c.43C>T (p.Arg15Cys)	HSPB3 (R15C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 906393	NM_006308.3(HSPB3):c.67C>T (p.Arg23Ter)	HSPB3 (R23*)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 931148	NM_006308.3(HSPB3):c.68G>A (p.Arg23Gln)	HSPB3 (R23Q)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 1113671	NM_006308.3(HSPB3):c.90G>T (p.Leu30=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 2907790	NM_006308.3(HSPB3):c.92A>G (p.Asp31Gly)	HSPB3 (D31G)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 648201	NM_006308.3(HSPB3):c.98dup (p.Leu34fs)	HSPB3 (L34fs)	Duplication (frameshift variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 3107368	NM_006308.3(HSPB3):c.106G>T (p.Ala36Ser)	HSPB3 (A36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2193273	NM_006308.3(HSPB3):c.127G>A (p.Val43Met)	HSPB3 (V43M)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 721798	NM_006308.3(HSPB3):c.144C>A (p.Thr48=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 353897	NM_006308.3(HSPB3):c.158C>A (p.Ser53Tyr)	HSPB3 (S53Y)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 3107369	NM_006308.3(HSPB3):c.164C>T (p.Pro55Leu)	HSPB3 (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288817	NM_006308.3(HSPB3):c.170A>T (p.Asp57Val)	HSPB3 (D57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2724293	NM_006308.3(HSPB3):c.176C>T (p.Ala59Val)	HSPB3 (A59V)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 2413461	NM_006308.3(HSPB3):c.177G>A (p.Ala59=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 1095674	NM_006308.3(HSPB3):c.183G>A (p.Glu61=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 2910188	NM_006308.3(HSPB3):c.185C>T (p.Thr62Met)	HSPB3 (T62M)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 471412	NM_006308.3(HSPB3):c.194G>A (p.Arg65Gln)	HSPB3 (R65Q)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 353898	NM_006308.3(HSPB3):c.199G>A (p.Gly67Ser)	HSPB3 (G67S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2173772	NM_006308.3(HSPB3):c.209A>G (p.His70Arg)	HSPB3 (H70R)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 2906176	NM_006308.3(HSPB3):c.224T>A (p.Leu75Gln)	HSPB3 (L75Q)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 2886002	NM_006308.3(HSPB3):c.229G>A (p.Val77Met)	HSPB3 (V77M)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 538750	NM_006308.3(HSPB3):c.229G>T (p.Val77Leu)	HSPB3 (V77L)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 538751	NM_006308.3(HSPB3):c.240C>T (p.Phe80=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 955679	NM_006308.3(HSPB3):c.246del (p.Glu83fs)	HSPB3 (E83fs)	Deletion (frameshift variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 2046924	NM_006308.3(HSPB3):c.261T>C (p.Ile87=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 712306	NM_006308.3(HSPB3):c.270C>T (p.Phe90=)	HSPB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 471413	NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys)	HSPB3 (E91K)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C +1 more	GConflicting classifications of pathogenicity
Select item 1472112	NM_006308.3(HSPB3):c.275G>A (p.Gly92Asp)	HSPB3 (G92D)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 1299491	NM_006308.3(HSPB3):c.279G>A (p.Trp93Ter)	HSPB3 (W93*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 353899	NM_006308.3(HSPB3):c.282G>A (p.Leu94=)	HSPB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2414387	NM_006308.3(HSPB3):c.300C>T (p.His100=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 811167	NM_006308.3(HSPB3):c.316G>A (p.Glu106Lys)	HSPB3 (E106K)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C +1 more	GUncertain significance
Select item 353900	NM_006308.3(HSPB3):c.321C>T (p.His107=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 1508343	NM_006308.3(HSPB3):c.322G>A (p.Gly108Ser)	HSPB3 (G108S)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 753622	NM_006308.3(HSPB3):c.345C>T (p.Thr115=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 846157	NM_006308.3(HSPB3):c.346C>T (p.Arg116Ter)	HSPB3 (R116*)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 471414	NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln)	HSPB3 (R116Q)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C +1 more	GBenign/Likely benign
Select item 353901	NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro)	HSPB3 (R116P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GConflicting classifications of pathogenicity
Select item 353902	NM_006308.3(HSPB3):c.355A>G (p.Lys119Glu)	HSPB3 (K119E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 353903	NM_006308.3(HSPB3):c.369T>C (p.Gly123=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C +1 more	GBenign
Select item 2738849	NM_006308.3(HSPB3):c.408T>C (p.Asp136=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 634486	NM_006308.3(HSPB3):c.408T>A (p.Asp136Glu)	HSPB3 (D136E)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 1665830	NM_006308.3(HSPB3):c.420G>A (p.Val140=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C	GLikely benign
Select item 862897	NM_006308.3(HSPB3):c.437C>T (p.Pro146Leu)	HSPB3 (P146L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3107370	NM_006308.3(HSPB3):c.439G>T (p.Val147Phe)	HSPB3 (V147F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 904057	NM_006308.3(HSPB3):c.*10G>A	HSPB3	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 904058	NM_006308.3(HSPB3):c.*11G>T	HSPB3	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 353904	NM_006308.3(HSPB3):c.*16T>G	HSPB3	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 904059	NM_006308.3(HSPB3):c.*79C>T	HSPB3	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 353905	NM_006308.3(HSPB3):c.*109A>C	HSPB3	Single nucleotide variant (3 prime UTR variant)	Distal spinal muscular atrophy	GLikely benign
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425565	NC_000005.9:g.(?_53751620)_(53752072_?)dup	HSPB3	Duplication	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
Select item 832677	NC_000005.10:g.(?_54455780)_(54456252_?)del	HSPB3	Deletion	Neuronopathy, distal hereditary motor, type 2C	GUncertain significance
Select item 688600	GRCh37/hg19 5q11.2(chr5:53263426-53916242)x3	ARL15, HSPB3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686287	GRCh37/hg19 5q11.2(chr5:53308304-53821701)x3	ARL15, HSPB3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685493	GRCh37/hg19 5q11.2(chr5:53327509-53762704)x3	ARL15, HSPB3	Copy number gain	not provided	GUncertain significance
Select item 635932	NC_000005.9:g.53180658_54552379dup	ARL15, CCNO +11 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394638	GRCh37/hg19 5q11.2(chr5:53378898-54011892)x3	ARL15, HSPB3 +1 more	Copy number gain	See cases	GUncertain significance
Select item 268060	GRCh37/hg19 5q11.2(chr5:53316271-53815560)x3	HSPB3, SNX18 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 84