Total 26 pathogenic variants reported for Yunis-Varon syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) SNV
Germline		 Chr6:109715133 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4J
Condition: not provided
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Inborn genetic diseases
FIG4-related disorder
Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA233088 rs_121908287

40 SubmittersRCV000001791RCV000143812RCV000416487RCV000476702RCV001095515RCV001535566RCV001270162RCV001330564RCV002362551RCV003952336RCV005394105
NM_014845.6(FIG4):c.311G>A (p.Gly104Asp) SNV
Germline		 Chr6:109727130 Conflicting classifications of pathogenicity Yunis-Varon syndrome
Amyotrophic lateral sclerosis		 No Assertion Criteria Provided
 CA143922 rs_397509395

2 SubmittersRCV000043690RCV003447105
NM_014845.6(FIG4):c.524T>C (p.Leu175Pro) SNV
Germline		 Chr6:109735176 Conflicting classifications of pathogenicity Yunis-Varon syndrome
Amyotrophic lateral sclerosis		 No Assertion Criteria Provided
 CA143925 rs_397514707

2 SubmittersRCV000043692RCV003447107
NM_014845.6(FIG4):c.2348A>T (p.Asp783Val) SNV
Germline		 Chr6:109791543 Conflicting classifications of pathogenicity Bilateral parasagittal parieto-occipital polymicrogyria
Yunis-Varon syndrome		 No Assertion Criteria Provided
 CA170743 rs_587777716

2 SubmittersRCV000144074RCV003447115
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) SNV
Germline		 Chr6:109760253 Pathogenic Charcot-Marie-Tooth disease type 4J
Inborn genetic diseases
Condition: not provided
Charcot-Marie-Tooth disease type 4
FIG4-related disorder
Yunis-Varon syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277617 rs_377357931

10 SubmittersRCV000201166RCV000623247RCV001090680RCV001235453RCV003897432RCV005623072
NM_018052.5(VAC14):c.1895C>T (p.Thr632Met) SNV
Germline		 Chr16:70697199 Likely pathogenic Yunis-Varon syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA16609410 rs_1060499667

2 SubmittersRCV000449551RCV003441855
NM_018052.5(VAC14):c.923T>A (p.Leu308Ter) SNV
Germline		 Chr16:70781892 Pathogenic Yunis-Varon syndrome
Condition: not provided
Striatonigral degeneration, childhood-onset		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8147906 rs_769608639

3 SubmittersRCV000449608RCV002522739RCV004800412
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) SNV
Germline		 Chr6:109741502 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
Amyotrophic lateral sclerosis type 11
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
not specified
Condition: not provided
FIG4-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3955919 rs_138048706

11 SubmittersRCV000462434RCV000662126RCV000662127RCV000662128RCV000662129RCV001662424RCV001573278RCV003970280RCV002411445
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) SNV
Germline		 Chr6:109738415 Pathogenic Condition: not provided
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4
FIG4-related disorder
Charcot-Marie-Tooth disease type 4J		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618230 rs_776005417

8 SubmittersRCV000478168RCV000763552RCV002525832RCV001232367RCV003419795RCV003447141
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) SNV
Germline		 Chr6:109796772 Pathogenic/Likely pathogenic Condition: not provided
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3956425 rs_745790694

9 SubmittersRCV000518350RCV000825523RCV001197829RCV001216587RCV000789755
NM_014845.6(FIG4):c.290-2A>G SNV
Germline		 Chr6:109727107 Pathogenic Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria		 Criteria Provided
Single Submitter
 CA365215649 rs_587777715

1 SubmittersRCV000790987RCV000790988RCV000790989
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) SNV
Germline		 Chr6:109765052 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
FIG4-related disorder
Yunis-Varon syndrome		 Criteria Provided
Conflicting Classifications
 CA3956104 rs_747284213

4 SubmittersRCV001858532RCV000857166RCV003411830RCV005603668
NM_014845.6(FIG4):c.1751-16A>G SNV
Germline		 Chr6:109776906 Conflicting classifications of pathogenicity Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA3956174 rs_200778905

2 SubmittersRCV001196586RCV002069281
NM_014845.6(FIG4):c.2376+2T>G SNV
Germline		 Chr6:109791573 Likely pathogenic Amyotrophic lateral sclerosis type 11
Yunis-Varon syndrome		 Criteria Provided
Single Submitter
 CA3956359 rs_756308787

2 SubmittersRCV001809193RCV003147683
NM_014845.6(FIG4):c.1040-1G>A SNV
Germline		 Chr6:109743674 Likely pathogenic Charcot-Marie-Tooth disease type 4
Yunis-Varon syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3955975 rs_778949599

2 SubmittersRCV003745257RCV004787009
NM_014845.6(FIG4):c.1389-2A>G SNV
Germline		 Chr6:109763935 Likely pathogenic Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV004797323
NM_014845.6(FIG4):c.1150A>T (p.Arg384Ter) SNV
Germline		 Chr6:109760262 Likely pathogenic Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J		 Criteria Provided
Single Submitter

1 SubmittersRCV005400350
NM_014845.6(FIG4):c.2097-809A>G SNV
Germline		 Chr6:109788785 Pathogenic Yunis-Varon syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005623165
NM_014845.6(FIG4):c.1434+1G>T SNV
Germline		 Chr6:109763983 Likely pathogenic Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4J		 Criteria Provided
Single Submitter

1 SubmittersRCV005625075