ClinVar for MedGen (Select 1787720) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 695000	NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro)	NEFL (T444P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 694985	NM_014845.6(FIG4):c.1550A>G (p.Lys517Arg)	FIG4 (K517R)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 694864	NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln)	IGHMBP2 (R987Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 694849	NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)	DYNC1H1 (V2660G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 637948	NM_002180.3(IGHMBP2):c.1682T>C (p.Ile561Thr)	IGHMBP2 (I561T)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637947	NM_002180.3(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del)	IGHMBP2, LOC126861245	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 637937	NM_002180.3(IGHMBP2):c.1707C>T (p.Gly569=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637900	NM_002180.3(IGHMBP2):c.1091T>C (p.Leu364Pro)	IGHMBP2 (L364P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637699	NM_002180.3(IGHMBP2):c.1714_1716del (p.Lys572del)	IGHMBP2 (K572del)	Deletion (inframe_deletion)	Neuronopathy, distal hereditary motor, autosomal dominant +1 more	GUncertain significance
Select item 637698	NM_002180.3(IGHMBP2):c.114del (p.Glu39fs)	IGHMBP2 (E39fs)	Deletion (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637697	NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys)	IGHMBP2 (E334K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 637696	NM_002180.3(IGHMBP2):c.575T>C (p.Leu192Pro)	IGHMBP2 (L192P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637692	NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg)	IGHMBP2 (S421R)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GUncertain significance
Select item 637691	NM_002180.3(IGHMBP2):c.676G>T (p.Glu226Ter)	IGHMBP2 (E226*)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637543	NM_002047.4(GARS1):c.1955G>C (p.Gly652Ala)	GARS1 (G652A +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 637520	NM_001376.5(DYNC1H1):c.7846G>A (p.Glu2616Lys)	DYNC1H1 (E2616K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 637519	NM_001376.5(DYNC1H1):c.2019G>C (p.Trp673Cys)	DYNC1H1 (W673C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 637518	NM_001376.5(DYNC1H1):c.1834G>A (p.Val612Met)	DYNC1H1 (V612M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 637517	NM_001376.5(DYNC1H1):c.1808A>T (p.Glu603Val)	DYNC1H1 (E603V)	Single nucleotide variant (missense variant)	Spinal muscular atrophy with lower extremity predominance	GLikely pathogenic
Select item 637516	NM_001376.5(DYNC1H1):c.1741A>C (p.Met581Leu)	DYNC1H1 (M581L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 637515	NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly)	DYNC1H1 (R399G)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	GLikely pathogenic
Select item 637514	NM_001376.5(DYNC1H1):c.1012G>A (p.Asp338Asn)	DYNC1H1 (D338N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 637480	NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His)	IGHMBP2 (R606H)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely pathogenic
Select item 637479	NM_002180.3(IGHMBP2):c.2083A>T (p.Lys695Ter)	IGHMBP2 (K695*)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637277	NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs)	IGHMBP2 (K868fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GPathogenic
Select item 637276	NM_002180.3(IGHMBP2):c.1610T>A (p.Val537Glu)	IGHMBP2, LOC126861245 (V537E)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637275	NM_002180.3(IGHMBP2):c.1519C>T (p.Gln507Ter)	IGHMBP2 (Q507*)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637274	NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)	IGHMBP2 (C395R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 637271	NM_002180.3(IGHMBP2):c.587A>G (p.Gln196Arg)	IGHMBP2 (Q196R)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 637270	NM_002180.3(IGHMBP2):c.780del (p.Gln260fs)	IGHMBP2 (Q260fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 637269	NM_002180.3(IGHMBP2):c.711+1G>C	IGHMBP2	Single nucleotide variant (splice donor variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 637268	NM_002180.3(IGHMBP2):c.1794C>A (p.Asn598Lys)	IGHMBP2 (N598K)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637267	NM_002180.3(IGHMBP2):c.595G>C (p.Ala199Pro)	IGHMBP2 (A199P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637266	NM_002180.3(IGHMBP2):c.94C>T (p.Gln32Ter)	IGHMBP2 (Q32*)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637265	NM_002180.3(IGHMBP2):c.464T>A (p.Leu155Gln)	IGHMBP2 (L155Q)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637264	NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs)	IGHMBP2 (T407fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 637263	NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)	IGHMBP2 (R130*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GPathogenic/Likely pathogenic
Select item 637262	NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)	IGHMBP2 (R788*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 637261	NM_002180.3(IGHMBP2):c.2436del (p.Ala813fs)	IGHMBP2 (A813fs)	Deletion (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 637067	NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)	BICD2 (R747C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GConflicting classifications of pathogenicity
Select item 637066	NM_001003800.2(BICD2):c.1604C>T (p.Ala535Val)	BICD2 (A535V)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GPathogenic
Select item 637065	NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe)	BICD2 (I189F)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely pathogenic
Select item 620136	NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)	IGHMBP2 (Q446*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic
Select item 568470	NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)	MORC2 (R585C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +1 more	GUncertain significance
Select item 560995	NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr)	DYNC1H1 (R1603T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 522868	NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro)	IGHMBP2 (L577P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GConflicting classifications of pathogenicity
Select item 521206	NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)	IGHMBP2 (R147*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 466585	NM_002180.3(IGHMBP2):c.1826C>A (p.Ala609Glu)	IGHMBP2 (A609E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 365364	NM_015046.7(SETX):c.2672T>C (p.Val891Ala)	SETX (V891A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GConflicting classifications of pathogenicity
Select item 246081	NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu)	DYNC1H1 (R598L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 235235	NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)	BICD2 (K90R)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +4 more	GConflicting classifications of pathogenicity
Select item 234619	NM_021625.5(TRPV4):c.290C>G (p.Pro97Arg)	TRPV4 (P63R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 217450	NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)	IGHMBP2 (T493I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GPathogenic/Likely pathogenic
Select item 217449	NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)	IGHMBP2 (K328fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GPathogenic/Likely pathogenic
Select item 210883	NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)	DYNC1H1 (R264Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 204303	NM_002180.3(IGHMBP2):c.449+1G>T	IGHMBP2	Single nucleotide variant (splice donor variant)	Peripheral neuropathy +2 more	GPathogenic/Likely pathogenic
Select item 200939	NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)	LMNA (Q353* +2 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 194368	NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)	IGHMBP2 (T879K)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
Select item 55857	NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu)	BICD2 (S107L)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GPathogenic
Select item 30472	NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)	TRPV4 (R232C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 30032	NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu)	DYNC1H1 (I584L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GConflicting classifications of pathogenicity
Select item 9118	NM_002180.3(IGHMBP2):c.2611+1G>T	IGHMBP2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5001	NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)	TRPV4 (R316C +2 more)	Single nucleotide variant (missense variant)	TRPV4-related disorder +4 more	GPathogenic
Select item 4999	NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)	TRPV4 (R315W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 64