ClinVar for MedGen (Select 862085) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585617	NM_014845.6(FIG4):c.504C>G (p.Ser168Arg)	FIG4 (S168R)	Single nucleotide variant (missense variant)	Bilateral parasagittal parieto-occipital polymicrogyria +2 more	GUncertain significance
Select item 1733654	NM_014845.6(FIG4):c.365A>G (p.His122Arg)	FIG4 (H122R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1377094	NM_014845.6(FIG4):c.2149A>G (p.Lys717Glu)	FIG4 (K717E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1029315	NM_014845.6(FIG4):c.2119G>A (p.Gly707Arg)	FIG4 (G707R)	Single nucleotide variant (missense variant)	Bilateral parasagittal parieto-occipital polymicrogyria	GUncertain significance
Select item 977868	NM_014845.6(FIG4):c.691A>G (p.Asn231Asp)	FIG4 (N231D)	Single nucleotide variant (missense variant)	Bilateral parasagittal parieto-occipital polymicrogyria	GLikely pathogenic
Select item 917314	NM_014845.6(FIG4):c.446+32dup	FIG4	Duplication (intron variant)	not provided +5 more	GBenign
Select item 917083	NM_014845.6(FIG4):c.447-17dup	FIG4	Duplication (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 917077	NM_014845.6(FIG4):c.447-16delinsTT	FIG4	Indel (intron variant)	Amyotrophic lateral sclerosis type 11 +4 more	GLikely benign
Select item 804806	NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)	FIG4 (F815S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 694980	NM_014845.6(FIG4):c.447-3dup	FIG4	Duplication (intron variant)	Yunis-Varon syndrome +6 more	GBenign
Select item 673596	NM_014845.6(FIG4):c.1948+46C>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4J +4 more	GBenign
Select item 638361	NM_014845.6(FIG4):c.290-2A>G	FIG4	Single nucleotide variant (splice acceptor variant)	Bilateral parasagittal parieto-occipital polymicrogyria +2 more	GPathogenic
Select item 585870	NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)	FIG4 (S787N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 420149	NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)	FIG4 (W246*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4 +7 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 +8 more	GConflicting classifications of pathogenicity
Select item 355038	NM_014845.6(FIG4):c.1242T>C (p.Ile414=)	FIG4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 260450	NM_014845.6(FIG4):c.447-16G>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4J +7 more	GBenign/Likely benign
Select item 260449	NM_014845.6(FIG4):c.2559G>A (p.Ser853=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +7 more	GBenign
Select item 260447	NM_014845.6(FIG4):c.1948+3A>G	FIG4	Single nucleotide variant (intron variant)	Yunis-Varon syndrome +7 more	GBenign
Select item 156017	NM_014845.6(FIG4):c.2348A>T (p.Asp783Val)	FIG4 (D783V)	Single nucleotide variant (missense variant)	Yunis-Varon syndrome +1 more	GConflicting classifications of pathogenicity
Select item 156015	NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)	FIG4 (E302K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 137377	NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)	FIG4 (V654A)	Single nucleotide variant (missense variant)	Bilateral parasagittal parieto-occipital polymicrogyria +7 more	GBenign
Select item 137376	NM_014845.6(FIG4):c.27C>T (p.Ile9=)	FIG4	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 50995	NM_014845.6(FIG4):c.831_838del (p.Lys278fs)	FIG4 (K278fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1721	NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	FIG4 (I41T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J +7 more	GPathogenic/Likely pathogenic

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Items: 25