"Ambry Genetics"[submitter] AND "HSPB1"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1784219	NM_001540.5(HSPB1):c.2_3inv (p.Met1Thr)	HSPB1 (M1T)	Inversion (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 934124	NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)	HSPB1 (M1I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1761601	NM_001540.5(HSPB1):c.7G>C (p.Glu3Gln)	HSPB1 (E3Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 410715	NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)	HSPB1 (V6I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 650957	NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)	HSPB1 (V6A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 377969	NM_001540.5(HSPB1):c.36G>T (p.Arg12=)	HSPB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1741034	NM_001540.5(HSPB1):c.44G>A (p.Ser15Asn)	HSPB1 (S15N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1750378	NM_001540.5(HSPB1):c.58C>A (p.Arg20Ser)	HSPB1 (R20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3107366	NM_001540.5(HSPB1):c.77G>A (p.Ser26Asn)	HSPB1 (S26N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107367	NM_001540.5(HSPB1):c.78C>A (p.Ser26Arg)	HSPB1 (S26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 507783	NM_001540.5(HSPB1):c.84C>T (p.Leu28=)	HSPB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1767522	NM_001540.5(HSPB1):c.95C>T (p.Ala32Val)	HSPB1 (A32V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 220380	NM_001540.5(HSPB1):c.99C>T (p.Phe33=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GLikely benign
Select item 3107363	NM_001540.5(HSPB1):c.124_125insTC (p.Trp42fs)	HSPB1 (W42fs)	Insertion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 1507511	NM_001540.5(HSPB1):c.128C>G (p.Ser43Trp)	HSPB1 (S43W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 958556	NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile)	HSPB1 (S50I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +2 more	GUncertain significance
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 465267	NM_001540.5(HSPB1):c.204G>C (p.Val68=)	HSPB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 360737	NM_001540.5(HSPB1):c.216C>T (p.Ala72=)	HSPB1	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2B +2 more	GConflicting classifications of pathogenicity
Select item 465268	NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe)	HSPB1 (L77F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 388521	NM_001540.5(HSPB1):c.240A>G (p.Gln80=)	HSPB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 533817	NM_001540.5(HSPB1):c.243C>T (p.Leu81=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GLikely benign
Select item 220419	NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)	HSPB1 (G84R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 425416	NM_001540.5(HSPB1):c.255C>T (p.Val85=)	HSPB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 971702	NM_001540.5(HSPB1):c.264C>G (p.Ile88Met)	HSPB1 (I88M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 410714	NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln)	HSPB1 (R89Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 935151	NM_001540.5(HSPB1):c.280C>A (p.Arg94Ser)	HSPB1 (R94S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 3107365	NM_001540.5(HSPB1):c.299A>C (p.Asp100Ala)	HSPB1 (D100A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 447528	NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)	HSPB1 (N102I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 382632	NM_001540.5(HSPB1):c.318G>C (p.Pro106=)	HSPB1	Single nucleotide variant (synonymous variant)	HSPB1-related disorder +4 more	GBenign/Likely benign
Select item 1450156	NM_001540.5(HSPB1):c.321C>A (p.Asp107Glu)	HSPB1 (D107E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GConflicting classifications of pathogenicity
Select item 1730306	NM_001540.5(HSPB1):c.332T>G (p.Val111Gly)	HSPB1 (V111G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1733510	NM_001540.5(HSPB1):c.364+5del	HSPB1	Deletion (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1733511	NM_001540.5(HSPB1):c.364+6C>T	HSPB1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 447529	NM_001540.5(HSPB1):c.364+6C>G	HSPB1	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1733625	NM_001540.5(HSPB1):c.365-5C>A	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GConflicting classifications of pathogenicity
Select item 465273	NM_001540.5(HSPB1):c.372C>G (p.His124Gln)	HSPB1 (H124Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 7479	NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)	HSPB1 (R127W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +3 more	GPathogenic
Select item 360738	NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)	HSPB1 (Q128R)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B +3 more	GConflicting classifications of pathogenicity
Select item 1191626	NM_001540.5(HSPB1):c.400A>C (p.Ile134Leu)	HSPB1 (I134L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 217230	NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)	HSPB1 (R136L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GPathogenic
Select item 1737908	NM_001540.5(HSPB1):c.410G>A (p.Cys137Tyr)	HSPB1 (C137Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 284979	NM_001540.5(HSPB1):c.417G>A (p.Thr139=)	HSPB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 7484	NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)	HSPB1 (R140G)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 515995	NM_001540.5(HSPB1):c.438C>T (p.Pro146=)	HSPB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1741536	NM_001540.5(HSPB1):c.456A>C (p.Gln152His)	HSPB1 (Q152H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742386	NM_001540.5(HSPB1):c.467C>T (p.Ser156Phe)	HSPB1 (S156F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 381272	NM_001540.5(HSPB1):c.501C>T (p.Ala167=)	HSPB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2607142	NM_001540.5(HSPB1):c.563G>A (p.Arg188Gln)	HSPB1 (R188Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 239029	NM_001540.5(HSPB1):c.567C>T (p.Ala189=)	HSPB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1749329	NM_001540.5(HSPB1):c.572T>G (p.Leu191Arg)	HSPB1 (L191R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1749474	NM_001540.5(HSPB1):c.575G>C (p.Gly192Ala)	HSPB1 (G192A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1749650	NM_001540.5(HSPB1):c.578G>A (p.Gly193Asp)	HSPB1 (G193D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 955895	NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn)	HSPB1 (D200N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1986309	NM_001540.5(HSPB1):c.602A>G (p.Glu201Gly)	HSPB1 (E201G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
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

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Items: 61