ClinVar for MedGen (Select 370808) - ClinVar

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Items: 86

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25856171.	NM_014845.6(FIG4):c.504C>G (p.Ser168Arg) GRCh37: Chr6:110056359 GRCh38: Chr6:109735156	FIG4	S168R	Bilateral parasagittal parieto-occipital polymicrogyria, Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4J	Uncertain significance	criteria provided, single submitter
Select item 24422112.	NM_014845.6(FIG4):c.394A>G (p.Met132Val) GRCh37: Chr6:110048416 GRCh38: Chr6:109727213	FIG4	M132V	Charcot-Marie-Tooth disease type 4J	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 17100743.	NM_014845.6(FIG4):c.446+2T>C GRCh37: Chr6:110048470 GRCh38: Chr6:109727267	FIG4		Charcot-Marie-Tooth disease type 4J	Likely pathogenic (Oct 11, 2021)	criteria provided, single submitter
Select item 16786054.	NM_014845.6(FIG4):c.400T>C (p.Tyr134His) GRCh37: Chr6:110048422 GRCh38: Chr6:109727219	FIG4	Y134H	Charcot-Marie-Tooth disease type 4J	Uncertain significance (Nov 20, 2020)	criteria provided, single submitter
Select item 12996625.	NM_014845.6(FIG4):c.2174dup (p.Leu726fs) GRCh37: Chr6:110110873-110110874 GRCh38: Chr6:109789670-109789671	FIG4	L726fs	Charcot-Marie-Tooth disease type 4J	Pathogenic (Oct 5, 2021)	no assertion criteria provided
Select item 10612346.	NM_014845.6(FIG4):c.827C>T (p.Ser276Phe) GRCh37: Chr6:110062698 GRCh38: Chr6:109741495	FIG4	S276F	Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4	Uncertain significance (Apr 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9173147.	NM_014845.6(FIG4):c.446+32dup GRCh37: Chr6:110048489-110048490 GRCh38: Chr6:109727286-109727287	FIG4		not provided, Charcot-Marie-Tooth disease, Bilateral parasagittal parieto-occipital polymicrogyria, Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9170838.	NM_014845.6(FIG4):c.447-17dup GRCh37: Chr6:110053820-110053821 GRCh38: Chr6:109732617-109732618	FIG4		Bilateral parasagittal parieto-occipital polymicrogyria, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9170779.	NM_014845.6(FIG4):c.447-16delinsTT GRCh37: Chr6:110053824 GRCh38: Chr6:109732621	FIG4		Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease	Likely benign (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90703810.	NM_014845.6(FIG4):c.2546+5G>C GRCh37: Chr6:110118059 GRCh38: Chr6:109796856	FIG4		Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90703711.	NM_014845.6(FIG4):c.2222C>T (p.Thr741Met) GRCh37: Chr6:110112620 GRCh38: Chr6:109791417	FIG4	T741M	Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90602012.	NM_014845.6(FIG4):c.2096+3A>G GRCh37: Chr6:110107655 GRCh38: Chr6:109786452	FIG4		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Dec 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90558113.	NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) GRCh37: Chr6:110146434 GRCh38: Chr6:109825231	FIG4	M897T	not provided, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90550914.	NM_014845.6(FIG4):c.1889+9C>T GRCh37: Chr6:110098272 GRCh38: Chr6:109777069	FIG4		Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90472115.	NM_014845.6(FIG4):c.1482C>T (p.Asn494=) GRCh37: Chr6:110086263 GRCh38: Chr6:109765060	FIG4		Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 90457416.	NM_014845.5(FIG4):c.-152C>A GRCh37: Chr6:110012487 GRCh38: Chr6:109691284	FIG4		Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 80480617.	NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) GRCh37: Chr6:110113852 GRCh38: Chr6:109792649	FIG4	F815S	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, Bilateral parasagittal parieto-occipital polymicrogyria, not provided, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69517918.	NM_014845.6(FIG4):c.658A>G (p.Ile220Val) GRCh37: Chr6:110059539 GRCh38: Chr6:109738336	FIG4	I220V	Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 69498819.	NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) GRCh37: Chr6:110146296 GRCh38: Chr6:109825093	FIG4	P851L	not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Uncertain significance (Dec 9, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69498020.	NM_014845.6(FIG4):c.447-3dup GRCh37: Chr6:110053824-110053825 GRCh38: Chr6:109732621-109732622	FIG4		Charcot-Marie-Tooth disease, Bilateral parasagittal parieto-occipital polymicrogyria, not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 67359621.	NM_014845.6(FIG4):c.1948+46C>A GRCh37: Chr6:110106277 GRCh38: Chr6:109785074	FIG4		not provided, Bilateral parasagittal parieto-occipital polymicrogyria, Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66344522.	NM_014845.6(FIG4):c.1271+5A>G GRCh37: Chr6:110081591 GRCh38: Chr6:109760388	FIG4		Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 63836123.	NM_014845.6(FIG4):c.290-2A>G GRCh37: Chr6:110048310 GRCh38: Chr6:109727107	FIG4		Bilateral parasagittal parieto-occipital polymicrogyria, Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4J	Pathogenic (Apr 27, 2019)	criteria provided, single submitter
Select item 58749024.	NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) GRCh37: Chr6:110037687 GRCh38: Chr6:109716484	FIG4	R69C	Inborn genetic diseases, FIG4-related condition, not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, FIG4-Related Disorders, Charcot-Marie-Tooth disease type 4	Uncertain significance (Jun 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 58587025.	NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) GRCh37: Chr6:110112758 GRCh38: Chr6:109791555	FIG4	S787N	Yunis-Varon syndrome, Bilateral parasagittal parieto-occipital polymicrogyria, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, not provided	Uncertain significance (Dec 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54349626.	NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) GRCh37: Chr6:110056495 GRCh38: Chr6:109735292	FIG4	G214R	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 54342427.	NM_014845.6(FIG4):c.109C>T (p.Arg37Cys) GRCh37: Chr6:110036323 GRCh38: Chr6:109715120	FIG4	R37C	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47686028.	NM_014845.6(FIG4):c.2460-8A>G GRCh37: Chr6:110117960 GRCh38: Chr6:109796757	FIG4		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J, not provided	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44733629.	NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) GRCh37: Chr6:110117975 GRCh38: Chr6:109796772	FIG4	Q823*	Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome	Pathogenic/Likely pathogenic (Jul 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42014930.	NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) GRCh37: Chr6:110059618 GRCh38: Chr6:109738415	FIG4	W246*	Amyotrophic lateral sclerosis type 11, Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, FIG4-related condition, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not provided	Pathogenic (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 40708231.	NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) GRCh37: Chr6:110062705 GRCh38: Chr6:109741502	FIG4	K278N	Bilateral parasagittal parieto-occipital polymicrogyria, not specified, Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome, not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 38984232.	NM_014845.6(FIG4):c.33G>C (p.Ser11=) GRCh37: Chr6:110012671 GRCh38: Chr6:109691468	FIG4		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 38100533.	NM_014845.6(FIG4):c.446+9G>A GRCh37: Chr6:110048477 GRCh38: Chr6:109727274	FIG4		Charcot-Marie-Tooth disease, not specified, not provided, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Conflicting interpretations of pathogenicity (Oct 11, 2022)	criteria provided, conflicting interpretations
Select item 35505234.	NM_014845.6(FIG4):c.*120C>T GRCh37: Chr6:110146588 GRCh38: Chr6:109825385	FIG4		not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Benign (Jun 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35505135.	NM_014845.6(FIG4):c.*29G>A GRCh37: Chr6:110146497 GRCh38: Chr6:109825294	FIG4		not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35505036.	NM_014845.6(FIG4):c.*7C>T GRCh37: Chr6:110146475 GRCh38: Chr6:109825272	FIG4		not provided, Charcot-Marie-Tooth disease, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35504937.	NM_014845.6(FIG4):c.2568G>T (p.Ser856=) GRCh37: Chr6:110146312 GRCh38: Chr6:109825109	FIG4		Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 35504838.	NM_014845.6(FIG4):c.2547-4A>G GRCh37: Chr6:110146287 GRCh38: Chr6:109825084	FIG4		Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Conflicting interpretations of pathogenicity (May 8, 2021)	criteria provided, conflicting interpretations
Select item 35504739.	NM_014845.6(FIG4):c.2547-5T>G GRCh37: Chr6:110146286 GRCh38: Chr6:109825083	FIG4		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 35504640.	NM_014845.6(FIG4):c.2547-11A>G GRCh37: Chr6:110146280 GRCh38: Chr6:109825077	FIG4		Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 35504541.	NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) GRCh37: Chr6:110117968 GRCh38: Chr6:109796765	FIG4	R820S	not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Dec 20, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35504442.	NM_014845.6(FIG4):c.2223G>T (p.Thr741=) GRCh37: Chr6:110112621 GRCh38: Chr6:109791418	FIG4		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 35504343.	NM_014845.6(FIG4):c.2096G>A (p.Arg699His) GRCh37: Chr6:110107652 GRCh38: Chr6:109786449	FIG4	R699H	Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome, not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35504244.	NM_014845.6(FIG4):c.1863C>A (p.Thr621=) GRCh37: Chr6:110098237 GRCh38: Chr6:109777034	FIG4		Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 35504145.	NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr) GRCh37: Chr6:110098167 GRCh38: Chr6:109776964	FIG4	F598Y	Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Oct 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35503946.	NM_014845.6(FIG4):c.1272-10C>G GRCh37: Chr6:110083284 GRCh38: Chr6:109762081	FIG4		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 35503847.	NM_014845.6(FIG4):c.1242T>C (p.Ile414=) GRCh37: Chr6:110081557 GRCh38: Chr6:109760354	FIG4		Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, Amyotrophic lateral sclerosis type 11, not specified, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35503748.	NM_014845.6(FIG4):c.350C>T (p.Ala117Val) GRCh37: Chr6:110048372 GRCh38: Chr6:109727169	FIG4	A117V	not provided, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Conflicting interpretations of pathogenicity (Sep 15, 2021)	criteria provided, conflicting interpretations
Select item 35503649.	NM_014845.6(FIG4):c.262C>T (p.Arg88Ter) GRCh37: Chr6:110037744 GRCh38: Chr6:109716541	FIG4	R88*	FIG4-Related Disorders, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11	Conflicting interpretations of pathogenicity (Jul 23, 2022)	criteria provided, conflicting interpretations
Select item 35503550.	NM_014845.6(FIG4):c.243A>G (p.Lys81=) GRCh37: Chr6:110037725 GRCh38: Chr6:109716522	FIG4		Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Conflicting interpretations of pathogenicity (Oct 12, 2021)	criteria provided, conflicting interpretations
Select item 35503451.	NM_014845.6(FIG4):c.235G>A (p.Gly79Arg) GRCh37: Chr6:110037717 GRCh38: Chr6:109716514	FIG4	G79R	Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35503352.	NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) GRCh37: Chr6:110037655 GRCh38: Chr6:109716452	FIG4	Y58C	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not specified, not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35503253.	NM_014845.6(FIG4):c.-84A>G GRCh37: Chr6:110012555 GRCh38: Chr6:109691352	FIG4		Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35503154.	NM_014845.6(FIG4):c.-112G>A GRCh37: Chr6:110012527 GRCh38: Chr6:109691324	FIG4		Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35503055.	NM_014845.6(FIG4):c.-120C>T GRCh37: Chr6:110012519 GRCh38: Chr6:109691316	FIG4		not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Benign (Nov 25, 2019)	criteria provided, multiple submitters, no conflicts
Select item 35502956.	NM_014845.6(FIG4):c.-121G>A GRCh37: Chr6:110012518 GRCh38: Chr6:109691315	FIG4		not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Benign (Jan 6, 2019)	criteria provided, multiple submitters, no conflicts
Select item 35502857.	NM_014845.6(FIG4):c.-124A>G GRCh37: Chr6:110012515 GRCh38: Chr6:109691312	FIG4		Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35502758.	NM_014845.6(FIG4):c.-132A>G GRCh37: Chr6:110012507 GRCh38: Chr6:109691304	FIG4		Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35502659.	NM_014845.6(FIG4):c.-134C>G GRCh37: Chr6:110012505 GRCh38: Chr6:109691302	FIG4		Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35502560.	NM_014845.6(FIG4):c.-138T>C GRCh37: Chr6:110012501 GRCh38: Chr6:109691298	FIG4		Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35502461.	NM_014845.5(FIG4):c.-182G>A GRCh37: Chr6:110012457 GRCh38: Chr6:109691254	FIG4		not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Benign/Likely benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 26045262.	NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) GRCh37: Chr6:110062679 GRCh38: Chr6:109741476	FIG4	T270A	not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 4	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26045063.	NM_014845.6(FIG4):c.447-16G>T GRCh37: Chr6:110053824 GRCh38: Chr6:109732621	FIG4		Yunis-Varon syndrome, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26044964.	NM_014845.6(FIG4):c.2559G>A (p.Ser853=) GRCh37: Chr6:110146303 GRCh38: Chr6:109825100	FIG4		Charcot-Marie-Tooth disease, Amyotrophic lateral sclerosis type 11, not specified, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4, not provided, Bilateral parasagittal parieto-occipital polymicrogyria, Yunis-Varon syndrome	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26044865.	NM_014845.6(FIG4):c.2097-10C>G GRCh37: Chr6:110110787 GRCh38: Chr6:109789584	FIG4		not specified, Charcot-Marie-Tooth disease, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 26044766.	NM_014845.6(FIG4):c.1948+3A>G GRCh37: Chr6:110106234 GRCh38: Chr6:109785031	FIG4		Charcot-Marie-Tooth disease, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4, not specified, not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Bilateral parasagittal parieto-occipital polymicrogyria, Yunis-Varon syndrome	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26044667.	NM_014845.6(FIG4):c.1584-8T>A GRCh37: Chr6:110087924 GRCh38: Chr6:109766721	FIG4		Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 4, not specified	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 26044468.	NM_014845.6(FIG4):c.*14C>T GRCh37: Chr6:110146482 GRCh38: Chr6:109825279	FIG4		Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease, not specified, not provided	Benign/Likely benign (Dec 18, 2019)	criteria provided, multiple submitters, no conflicts
Select item 25467169.	NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) GRCh37: Chr6:110106223 GRCh38: Chr6:109785020	FIG4	Y647C	not provided, Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Conflicting interpretations of pathogenicity (Jan 9, 2023)	criteria provided, conflicting interpretations
Select item 25466870.	NM_014845.6(FIG4):c.759del (p.Phe254fs) GRCh37: Chr6:110059638 GRCh38: Chr6:109738435	FIG4		Charcot-Marie-Tooth disease type 4, not provided, Amyotrophic lateral sclerosis type 11	Pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24612071.	NM_014845.6(FIG4):c.2459+1G>A GRCh37: Chr6:110113868 GRCh38: Chr6:109792665	FIG4		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4J	Pathogenic/Likely pathogenic (Jun 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23466172.	NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) GRCh37: Chr6:110112598 GRCh38: Chr6:109791395	FIG4	E734K	Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22033273.	NM_014845.6(FIG4):c.66+10C>T GRCh37: Chr6:110012714 GRCh38: Chr6:109691511	FIG4		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, not provided	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21722874.	NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) GRCh37: Chr6:110081456 GRCh38: Chr6:109760253	FIG4	R381*	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4J	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21668175.	NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu) GRCh37: Chr6:110146311 GRCh38: Chr6:109825108	FIG4	S856L	Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 15601676.	NM_014845.6(FIG4):c.290-2A>T GRCh37: Chr6:110048310 GRCh38: Chr6:109727107	FIG4		Charcot-Marie-Tooth disease type 4J	Likely pathogenic (Jun 13, 2023)	criteria provided, single submitter
Select item 15601577.	NM_014845.6(FIG4):c.904G>A (p.Glu302Lys) GRCh37: Chr6:110064340 GRCh38: Chr6:109743137	FIG4	E302K	Charcot-Marie-Tooth disease type 4, Tremor	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 15601478.	NM_014845.6(FIG4):c.50T>C (p.Leu17Pro) GRCh37: Chr6:110012688 GRCh38: Chr6:109691485	FIG4	L17P	Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 13737779.	NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) GRCh37: Chr6:110107517 GRCh38: Chr6:109786314	FIG4	V654A	Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome, Bilateral parasagittal parieto-occipital polymicrogyria, not specified, not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13737680.	NM_014845.6(FIG4):c.27C>T (p.Ile9=) GRCh37: Chr6:110012665 GRCh38: Chr6:109691462	FIG4		Amyotrophic lateral sclerosis type 11, Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified, not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11 ...see more	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13737581.	NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) GRCh37: Chr6:110064928 GRCh38: Chr6:109743725	FIG4	M364L	Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13737482.	NM_014845.6(FIG4):c.67-7T>C GRCh37: Chr6:110036274 GRCh38: Chr6:109715071	FIG4		Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172483.	NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs) GRCh37: Chr6:110064881-110064888 GRCh38: Chr6:109743678-109743685	FIG4	D348fs	Charcot-Marie-Tooth disease type 4	Pathogenic (Aug 18, 2021)	criteria provided, single submitter
Select item 172384.	NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) GRCh37: Chr6:110056402 GRCh38: Chr6:109735199	FIG4	R183*	Charcot-Marie-Tooth disease type 4, not provided, Amyotrophic lateral sclerosis	Pathogenic/Likely pathogenic (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172285.	NM_014845.6(FIG4):c.294del (p.Phe98fs) GRCh37: Chr6:110048313 GRCh38: Chr6:109727110	FIG4	F98fs	Yunis-Varon syndrome	Pathogenic (Oct 2, 2019)	criteria provided, single submitter
Select item 172186.	NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) GRCh37: Chr6:110036336 GRCh38: Chr6:109715133	FIG4	I41T	FIG4-Related Disorders, Yunis-Varon syndrome, Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis, not specified, not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations

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Items: 86