Total 20 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
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Inborn genetic diseases
FIG4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA233088 rs_121908287

35 SubmittersRCV000001791RCV000143812RCV000416487RCV000476702RCV001095515RCV001270162RCV001330564RCV001535566RCV002362551RCV003952336
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_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 Striatonigral degeneration, childhood-onset
Yunis-Varon syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8147906 rs_769608639

3 SubmittersRCV004800412RCV000449608RCV002522739
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) SNV
Germline		 Chr6:109741502 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Condition: not provided
not specified
Inborn genetic diseases
FIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3955919 rs_138048706

11 SubmittersRCV000462434RCV000662128RCV000662129RCV000662127RCV000662126RCV001573278RCV001662424RCV002411445RCV003970280
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) SNV
Germline		 Chr6:109738415 Pathogenic Condition: not provided
Amyotrophic lateral sclerosis type 11
Bilateral parasagittal parieto-occipital polymicrogyria
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
FIG4-related disorder
Charcot-Marie-Tooth disease type 4J		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618230 rs_776005417

8 SubmittersRCV000478168RCV000763552RCV001232367RCV002525832RCV003419795RCV003447141
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) SNV
Germline		 Chr6:109796772 Pathogenic/Likely pathogenic Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3956425 rs_745790694

9 SubmittersRCV000518350RCV000789755RCV000825523RCV001197829RCV001216587
NM_014845.6(FIG4):c.290-2A>G SNV
Germline		 Chr6:109727107 Pathogenic Bilateral parasagittal parieto-occipital polymicrogyria
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome		 Criteria Provided
Single Submitter
 rs_587777715

1 SubmittersRCV000790989RCV000790987RCV000790988
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
 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
 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

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

1 SubmittersRCV004797323