"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "FIG4"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 476851	NM_014845.6(FIG4):c.14C>T (p.Ala5Val)	FIG4 (A5V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 476850	NM_014845.6(FIG4):c.101C>T (p.Thr34Met)	FIG4 (T34M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 850812	NM_014845.6(FIG4):c.251C>T (p.Ser84Leu)	FIG4 (S84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1418552	NM_014845.6(FIG4):c.396G>A (p.Met132Ile)	FIG4 (M132I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 849394	NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys)	FIG4 (Y134C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 664476	NM_014845.6(FIG4):c.535C>T (p.Leu179Phe)	FIG4 (L179F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 476866	NM_014845.6(FIG4):c.589C>T (p.Arg197Cys)	FIG4 (R197C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 1750549	NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)	FIG4 (Q198*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2682946	NM_014845.6(FIG4):c.644G>A (p.Ser215Asn)	FIG4 (S215N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420149	NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)	FIG4 (W246*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 11 +6 more	GPathogenic
Select item 2682947	NM_014845.6(FIG4):c.790G>A (p.Gly264Arg)	FIG4 (G264R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488991	NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)	FIG4 (R265*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4J +3 more	GPathogenic
Select item 407082	NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)	FIG4 (K278N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J +7 more	GConflicting classifications of pathogenicity
Select item 1163269	NM_014845.6(FIG4):c.1137+5G>T	FIG4	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 217228	NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)	FIG4 (R381*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 665726	NM_014845.6(FIG4):c.1187C>T (p.Ala396Val)	FIG4 (A396V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 845694	NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu)	FIG4 (P407L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 964917	NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala)	FIG4 (T410A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 254671	NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)	FIG4 (Y647C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +5 more	GUncertain significance
Select item 1511401	NM_014845.6(FIG4):c.2152C>G (p.Pro718Ala)	FIG4 (P718A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 234661	NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys)	FIG4 (E734K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J +3 more	GUncertain significance
Select item 804806	NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)	FIG4 (F815S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +6 more	GUncertain significance
Select item 938191	NM_014845.6(FIG4):c.2547-1G>A	FIG4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 694988	NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu)	FIG4 (P851L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1408063	NM_014845.6(FIG4):c.2660T>C (p.Met887Thr)	FIG4 (M887T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 26