"FGD4-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284800	NM_001370298.3(FGD4):c.167-29719A>G	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	FGD4-related condition	GBenign
Select item 543396	NM_001370298.3(FGD4):c.603A>G (p.Gln201=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 414873	NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)	FGD4 (T79I +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4H +5 more	GLikely benign
Select item 197374	NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)	FGD4 (D145E +3 more)	Single nucleotide variant (missense variant +3 more)	FGD4-related condition +4 more	GBenign
Select item 308289	NM_001370298.3(FGD4):c.1143G>A (p.Ser381=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 2074095	NM_001370298.3(FGD4):c.1200C>T (p.Phe400=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	FGD4-related condition +1 more	GLikely benign
Select item 308294	NM_001370298.3(FGD4):c.1470C>T (p.Pro490=)	FGD4	Single nucleotide variant (synonymous variant)	FGD4-related condition +3 more	GBenign
Select item 188187	NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)	FGD4 (P456T +6 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 308298	NM_001370298.3(FGD4):c.1926T>C (p.Ser642=)	FGD4	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 194280	NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)	FGD4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 188396	NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)	FGD4 (P571T +6 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 188373	NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)	FGD4 (V717M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity