"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1721	NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	FIG4 (I41T)	Single nucleotide variant (missense variant)	FIG4-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 1722	NM_014845.6(FIG4):c.294del (p.Phe98fs)	FIG4 (F98fs)	Deletion (frameshift variant)	Yunis-Varon syndrome	GPathogenic
Select item 930721	NM_014845.6(FIG4):c.1751-16A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 930472	NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn)	FIG4 (I673N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 407085	NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys)	FIG4 (R699C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 355043	NM_014845.6(FIG4):c.2096G>A (p.Arg699His)	FIG4 (R699H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +5 more	GUncertain significance
Select item 447336	NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)	FIG4 (Q823*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic

ClinVar