ClinVar for MedGen (Select 393399) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431047	NM_014845.6(FIG4):c.1049C>T (p.Ala350Val)	FIG4 (A350V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 11	Gno classifications from unflagged records
Select item 1709974	NM_014845.6(FIG4):c.647-2_647-1insG	FIG4	Duplication (splice acceptor variant)	Amyotrophic lateral sclerosis type 11	GLikely pathogenic
Select item 1709776	NM_014845.6(FIG4):c.670C>T (p.Pro224Ser)	FIG4 (P224S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 11	GUncertain significance
Select item 1709499	NM_014845.6(FIG4):c.2509C>T (p.Gln837Ter)	FIG4 (Q837*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 11	GUncertain significance
Select item 1515492	NM_014845.6(FIG4):c.397A>G (p.Ile133Val)	FIG4 (I133V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1333978	NM_014845.6(FIG4):c.2376+2T>G	FIG4	Single nucleotide variant (splice donor variant)	Yunis-Varon syndrome	GLikely pathogenic
Select item 917314	NM_014845.6(FIG4):c.446+32dup	FIG4	Duplication (intron variant)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 917083	NM_014845.6(FIG4):c.447-17dup	FIG4	Duplication (intron variant)	Charcot-Marie-Tooth disease type 4 +6 more	GBenign/Likely benign
Select item 917077	NM_014845.6(FIG4):c.447-16delinsTT	FIG4	Indel (intron variant)	Bilateral parasagittal parieto-occipital polymicrogyria +4 more	GLikely benign
Select item 907038	NM_014845.6(FIG4):c.2546+5G>C	FIG4	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 11 +1 more	GUncertain significance
Select item 907037	NM_014845.6(FIG4):c.2222C>T (p.Thr741Met)	FIG4 (T741M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 11 +2 more	GUncertain significance
Select item 906020	NM_014845.6(FIG4):c.2096+3A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +3 more	GUncertain significance
Select item 905581	NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)	FIG4 (M897T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 905509	NM_014845.6(FIG4):c.1889+9C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4J +1 more	GUncertain significance
Select item 904721	NM_014845.6(FIG4):c.1482C>T (p.Asn494=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 904574	NM_014845.5(FIG4):c.-152C>A	FIG4	Single nucleotide variant	Charcot-Marie-Tooth disease type 4J +1 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 802256	NM_014845.6(FIG4):c.1150del (p.Arg384fs)	FIG4 (R384fs)	Deletion (frameshift variant)	Amyotrophic lateral sclerosis type 11	Gno classifications from unflagged records
Select item 695179	NM_014845.6(FIG4):c.658A>G (p.Ile220Val)	FIG4 (I220V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 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 694980	NM_014845.6(FIG4):c.447-3dup	FIG4	Duplication (intron variant)	Bilateral parasagittal parieto-occipital polymicrogyria +6 more	GBenign
Select item 673596	NM_014845.6(FIG4):c.1948+46C>A	FIG4	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 663445	NM_014845.6(FIG4):c.1271+5A>G	FIG4	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 11 +4 more	GConflicting classifications of pathogenicity
Select item 587490	NM_014845.6(FIG4):c.205C>T (p.Arg69Cys)	FIG4 (R69C)	Single nucleotide variant (missense variant)	FIG4-related disorder +5 more	GUncertain significance
Select item 585870	NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)	FIG4 (S787N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +6 more	GUncertain significance
Select item 543496	NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)	FIG4 (G214R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 543424	NM_014845.6(FIG4):c.109C>T (p.Arg37Cys)	FIG4 (R37C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J +3 more	GUncertain significance
Select item 420149	NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)	FIG4 (W246*)	Single nucleotide variant (nonsense)	not provided +6 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 389842	NM_014845.6(FIG4):c.33G>C (p.Ser11=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 381005	NM_014845.6(FIG4):c.446+9G>A	FIG4	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 355052	NM_014845.6(FIG4):c.*120C>T	FIG4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 355051	NM_014845.6(FIG4):c.*29G>A	FIG4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4J +2 more	GBenign
Select item 355050	NM_014845.6(FIG4):c.*7C>T	FIG4	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 355049	NM_014845.6(FIG4):c.2568G>T (p.Ser856=)	FIG4	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 11 +2 more	GConflicting classifications of pathogenicity
Select item 355048	NM_014845.6(FIG4):c.2547-4A>G	FIG4	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 11 +2 more	GConflicting classifications of pathogenicity
Select item 355047	NM_014845.6(FIG4):c.2547-5T>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 355046	NM_014845.6(FIG4):c.2547-11A>G	FIG4	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 11 +2 more	GConflicting classifications of pathogenicity
Select item 355045	NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser)	FIG4 (R820S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 11 +2 more	GUncertain significance
Select item 355044	NM_014845.6(FIG4):c.2223G>T (p.Thr741=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4J +3 more	GConflicting classifications of pathogenicity
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 355042	NM_014845.6(FIG4):c.1863C>A (p.Thr621=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +6 more	GConflicting classifications of pathogenicity
Select item 355041	NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr)	FIG4 (F598Y)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 11 +2 more	GUncertain significance
Select item 355039	NM_014845.6(FIG4):c.1272-10C>G	FIG4	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 11 +3 more	GConflicting classifications of pathogenicity
Select item 355038	NM_014845.6(FIG4):c.1242T>C (p.Ile414=)	FIG4	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 355037	NM_014845.6(FIG4):c.350C>T (p.Ala117Val)	FIG4 (A117V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 355036	NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)	FIG4 (R88*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 355035	NM_014845.6(FIG4):c.243A>G (p.Lys81=)	FIG4	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 11 +2 more	GConflicting classifications of pathogenicity
Select item 355034	NM_014845.6(FIG4):c.235G>A (p.Gly79Arg)	FIG4 (G79R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J +1 more	GUncertain significance
Select item 355033	NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)	FIG4 (Y58C)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 355032	NM_014845.6(FIG4):c.-84A>G	FIG4	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4J +1 more	GUncertain significance
Select item 355031	NM_014845.6(FIG4):c.-112G>A	FIG4	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4J +1 more	GUncertain significance
Select item 355030	NM_014845.6(FIG4):c.-120C>T	FIG4	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 355029	NM_014845.6(FIG4):c.-121G>A	FIG4	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4J +2 more	GBenign
Select item 355028	NM_014845.6(FIG4):c.-124A>G	FIG4	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4J +1 more	GUncertain significance
Select item 355027	NM_014845.6(FIG4):c.-132A>G	FIG4	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4J +2 more	GUncertain significance
Select item 355026	NM_014845.6(FIG4):c.-134C>G	FIG4	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4J +1 more	GUncertain significance
Select item 355025	NM_014845.6(FIG4):c.-138T>C	FIG4	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4J +1 more	GUncertain significance
Select item 355024	NM_014845.5(FIG4):c.-182G>A	FIG4	Single nucleotide variant	Amyotrophic lateral sclerosis type 11 +2 more	GBenign/Likely benign
Select item 260452	NM_014845.6(FIG4):c.808A>G (p.Thr270Ala)	FIG4 (T270A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +5 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)	not provided +7 more	GBenign
Select item 260448	NM_014845.6(FIG4):c.2097-10C>G	FIG4	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 11 +5 more	GConflicting classifications of pathogenicity
Select item 260447	NM_014845.6(FIG4):c.1948+3A>G	FIG4	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 11 +7 more	GBenign
Select item 260446	NM_014845.6(FIG4):c.1584-8T>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +5 more	GConflicting classifications of pathogenicity
Select item 260444	NM_014845.6(FIG4):c.*14C>T	FIG4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4J +4 more	GBenign/Likely benign
Select item 254672	NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu)	FIG4 (S853L)	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 254670	NM_014845.6(FIG4):c.1619C>T (p.Thr540Ile)	FIG4 (T540I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 11	GUncertain significance
Select item 254669	NM_014845.6(FIG4):c.919G>A (p.Asp307Asn)	FIG4 (D307N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 11 +1 more	GUncertain significance
Select item 254668	NM_014845.6(FIG4):c.759del (p.Phe254fs)	FIG4	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 246119	NM_014845.6(FIG4):c.1388+5G>T	FIG4	Single nucleotide variant (intron variant)	not provided +1 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 220332	NM_014845.6(FIG4):c.66+10C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +5 more	GBenign/Likely benign
Select item 216681	NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu)	FIG4 (S856L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J +3 more	GUncertain significance
Select item 137377	NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)	FIG4 (V654A)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign
Select item 137376	NM_014845.6(FIG4):c.27C>T (p.Ile9=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +8 more	GBenign/Likely benign
Select item 137375	NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)	FIG4 (M364L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +5 more	GBenign/Likely benign
Select item 137374	NM_014845.6(FIG4):c.67-7T>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign
Select item 1728	NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr)	FIG4 (D53Y)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1723	NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)	FIG4 (R183*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis +3 more	GPathogenic/Likely pathogenic
Select item 1721	NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	FIG4 (I41T)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 82