"Molecular Genetics Laboratory, London Health Sciences Centre"[submitt - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 665415	NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu)	FGD4 (S117L +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 702684	NM_001370298.3(FGD4):c.612C>T (p.Leu204=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease +1 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)	not provided +5 more	GLikely benign
Select item 215968	NM_001370298.3(FGD4):c.666A>T (p.Ala222=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 917065	NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr)	FGD4 (C173Y +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 697392	NM_001370298.3(FGD4):c.785C>T (p.Thr262Met)	FGD4 (T125M +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 308287	NM_001370298.3(FGD4):c.846C>T (p.Asp282=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease +4 more	GBenign
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 245601	NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)	FGD4 (G160D +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 917066	NM_001370298.3(FGD4):c.1102-5T>A	FGD4	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 224958	NM_001370298.3(FGD4):c.1247+10G>T	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 418192	NM_001370298.3(FGD4):c.1248-16dup	FGD4	Duplication (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917304	NM_001370298.3(FGD4):c.1248-13A>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 308290	NM_001370298.3(FGD4):c.1263A>G (p.Arg421=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 308292	NM_001370298.3(FGD4):c.1404+8G>A	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 579349	NM_001370298.3(FGD4):c.1502G>C (p.Arg501Thr)	FGD4 (R449T +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 917302	NM_001370298.3(FGD4):c.1602+7G>A	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 917303	NM_001370298.3(FGD4):c.1609C>T (p.Leu537=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 137368	NM_001370298.3(FGD4):c.1716G>A (p.Arg572=)	FGD4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 308297	NM_001370298.3(FGD4):c.1750-12C>T	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 188187	NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)	FGD4 (P456T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 917307	NM_001370298.3(FGD4):c.1824T>G (p.Val608=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917306	NM_001370298.3(FGD4):c.1922+11C>T	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 308298	NM_001370298.3(FGD4):c.1926T>C (p.Ser642=)	FGD4	Single nucleotide variant (synonymous variant)	FGD4-related condition +5 more	GBenign
Select item 137369	NM_001370298.3(FGD4):c.1929G>A (p.Ala643=)	FGD4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 224946	NM_001370298.3(FGD4):c.1954-8T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4H +3 more	GBenign/Likely benign
Select item 194280	NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)	FGD4	Single nucleotide variant (synonymous variant)	FGD4-related condition +6 more	GBenign/Likely benign
Select item 917064	NM_001370298.3(FGD4):c.2041G>A (p.Val681Ile)	FGD4 (V200I +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 308299	NM_001370298.3(FGD4):c.2047-7T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 194438	NM_001370298.3(FGD4):c.2070C>G (p.Ala690=)	FGD4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 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 provided +6 more	GBenign/Likely benign
Select item 476942	NM_001370298.3(FGD4):c.2373G>A (p.Glu791=)	FGD4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 658814	NM_001370298.3(FGD4):c.2506A>G (p.Met836Val)	FGD4 (M355V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 917305	NM_001370298.3(FGD4):c.2631A>G (p.Thr877=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign

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Items: 35