ClinVar for MedGen (Select 382017) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1001251	NM_001540.5(HSPB1):c.253G>T (p.Val85Phe)	HSPB1 (V85F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 954704	NM_001540.5(HSPB1):c.510del (p.Lys171fs)	HSPB1 (K171fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GPathogenic/Likely pathogenic
Select item 911820	NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)	HSPB1	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2B +1 more	GBenign
Select item 911771	NM_001540.4(HSPB1):c.-56C>T	HSPB1	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 910590	NM_001540.5(HSPB1):c.365-7C>T	HSPB1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 2B +1 more	GBenign
Select item 910589	NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)	HSPB1 (R79P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 909722	NM_001540.5(HSPB1):c.*116C>T	HSPB1	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2B +1 more	GUncertain significance
Select item 909721	NM_001540.5(HSPB1):c.*22C>T	HSPB1	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2B +2 more	GBenign/Likely benign
Select item 909658	NM_001540.5(HSPB1):c.108C>G (p.Pro36=)	HSPB1	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2B +1 more	GBenign/Likely benign
Select item 908866	NM_001540.5(HSPB1):c.615G>A (p.Lys205=)	HSPB1	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2B +1 more	GUncertain significance
Select item 908808	NM_001540.5(HSPB1):c.60C>T (p.Arg20=)	HSPB1	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2B +1 more	GUncertain significance
Select item 698878	NM_001540.5(HSPB1):c.498G>A (p.Glu166=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GLikely benign
Select item 681059	NM_001540.5(HSPB1):c.210G>A (p.Ala70=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F +2 more	GConflicting classifications of pathogenicity
Select item 637060	NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)	HSPB1 (S135C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GPathogenic/Likely pathogenic
Select item 560409	NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu)	HSPB1 (S187L)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B +2 more	GConflicting classifications of pathogenicity
Select item 560408	NM_001540.5(HSPB1):c.158G>A (p.Gly53Asp)	HSPB1 (G53D)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B +1 more	GConflicting classifications of pathogenicity
Select item 560407	NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser)	HSPB1 (P7S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GConflicting classifications of pathogenicity
Select item 549674	NM_001540.5(HSPB1):c.415A>G (p.Thr139Ala)	HSPB1 (T139A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GPathogenic
Select item 533816	NM_001540.5(HSPB1):c.365-6C>G	HSPB1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 2B +2 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 +4 more	GPathogenic
Select item 447529	NM_001540.5(HSPB1):c.364+6C>G	HSPB1	Single nucleotide variant (intron variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 447528	NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)	HSPB1 (N102I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 447527	NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser)	HSPB1 (G48S)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B +2 more	GUncertain significance
Select item 423339	NM_001540.5(HSPB1):c.180dup (p.Ala61fs)	HSPB1 (A61fs)	Duplication (frameshift variant)	Neuronopathy, distal hereditary motor, type 2B +2 more	GPathogenic/Likely pathogenic
Select item 381272	NM_001540.5(HSPB1):c.501C>T (p.Ala167=)	HSPB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 377969	NM_001540.5(HSPB1):c.36G>T (p.Arg12=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F +4 more	GBenign/Likely benign
Select item 360738	NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)	HSPB1 (Q128R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +3 more	GConflicting classifications of pathogenicity
Select item 360737	NM_001540.5(HSPB1):c.216C>T (p.Ala72=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F +2 more	GConflicting classifications of pathogenicity
Select item 360736	NM_001540.5(HSPB1):c.-4C>T	HSPB1	Single nucleotide variant (5 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2B +2 more	GConflicting classifications of pathogenicity
Select item 360735	NM_001540.4(HSPB1):c.-46C>T	HSPB1	Single nucleotide variant	not provided +2 more	GBenign
Select item 360734	NM_001540.4(HSPB1):c.-122G>T	HSPB1	Single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2F +2 more	GConflicting classifications of pathogenicity
Select item 360733	NM_001540.4(HSPB1):c.-129G>T	HSPB1	Single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 258166	NM_001540.5(HSPB1):c.24C>T (p.Phe8=)	HSPB1	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2B +4 more	GBenign/Likely benign
Select item 258165	NM_001540.5(HSPB1):c.-19C>T	HSPB1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease +4 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
Select item 239028	NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)	HSPB1 (P60S)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 224674	NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]	FKRP (L276I +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GLikely pathogenic
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
Select item 193215	NM_001540.5(HSPB1):c.9G>A (p.Glu3=)	HSPB1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 7485	NM_001540.5(HSPB1):c.295C>A (p.Leu99Met)	HSPB1 (L99M)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B	GPathogenic
Select item 7484	NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)	HSPB1 (R140G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GPathogenic
Select item 7483	NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)	HSPB1 (P182S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GPathogenic/Likely pathogenic
Select item 7481	NM_001540.5(HSPB1):c.545C>T (p.Pro182Leu)	HSPB1 (P182L)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B	GPathogenic
Select item 7480	NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)	HSPB1 (T151I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GPathogenic/Likely pathogenic
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 7478	NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)	HSPB1 (S135F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GPathogenic
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy +21 more	GPathogenic/Likely pathogenic

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Items: 47