ClinVar for MedGen (Select 341818) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239635	NM_014845.6(FIG4):c.2027A>G (p.Glu676Gly)	FIG4 (E676G)	Single nucleotide variant (missense variant)	Yunis-Varon syndrome	GUncertain significance
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 1333978	NM_014845.6(FIG4):c.2376+2T>G	FIG4	Single nucleotide variant (splice donor variant)	Yunis-Varon syndrome +1 more	GLikely pathogenic
Select item 1236180	NM_014845.6(FIG4):c.1583+1G>T	FIG4	Single nucleotide variant (splice donor variant)	Yunis-Varon syndrome	GUncertain significance
Select item 951641	NM_014845.6(FIG4):c.1750+1del	FIG4	Deletion (splice donor variant)	Charcot-Marie-Tooth disease type 4 +1 more	GPathogenic/Likely pathogenic
Select item 944958	NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp)	FIG4 (R766W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
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 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)	Charcot-Marie-Tooth disease +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 800748	NM_014845.6(FIG4):c.968A>G (p.Gln323Arg)	FIG4 (Q323R)	Single nucleotide variant (missense variant)	Yunis-Varon syndrome	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 662216	NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys)	FIG4 (R905C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
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 572934	NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs)	FIG4 (S762fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 523914	NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)	FIG4	Inversion (nonsense)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 447336	NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)	FIG4 (Q823*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4J +3 more	GPathogenic/Likely pathogenic
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 407085	NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys)	FIG4 (R699C)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 407082	NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)	FIG4 (K278N)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 397536	NM_018052.5(VAC14):c.923T>A (p.Leu308Ter)	VAC14 (L308* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 397535	NM_018052.5(VAC14):c.1895C>T (p.Thr632Met)	VAC14 (T632M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 355043	NM_014845.6(FIG4):c.2096G>A (p.Arg699His)	FIG4 (R699H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 11 +5 more	GUncertain significance
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 +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 156014	NM_014845.6(FIG4):c.50T>C (p.Leu17Pro)	FIG4 (L17P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 137377	NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)	FIG4 (V654A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 11 +7 more	GBenign
Select item 137376	NM_014845.6(FIG4):c.27C>T (p.Ile9=)	FIG4	Single nucleotide variant (synonymous variant)	FIG4-related disorder +9 more	GBenign/Likely benign
Select item 50996	NM_014845.6(FIG4):c.524T>C (p.Leu175Pro)	FIG4 (L175P)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +1 more	GConflicting classifications of pathogenicity
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 50994	NM_014845.6(FIG4):c.311G>A (p.Gly104Asp)	FIG4 (G104D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +1 more	GConflicting classifications of pathogenicity
Select item 50993	NM_014845.6(FIG4):c.1260_1261del (p.Thr422fs)	FIG4 (T422fs)	Deletion (frameshift variant)	Yunis-Varon syndrome	GConflicting classifications of pathogenicity
Select item 1722	NM_014845.6(FIG4):c.294del (p.Phe98fs)	FIG4 (F98fs)	Deletion (frameshift variant)	Yunis-Varon syndrome	GPathogenic
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

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Items: 41