ClinVar for MedGen (Select 341818) - ClinVar

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Items: 33

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13339781.	NM_014845.6(FIG4):c.2376+2T>G GRCh37: Chr6:110112776 GRCh38: Chr6:109791573	FIG4		Yunis-Varon syndrome, Amyotrophic lateral sclerosis type 11	Likely pathogenic (Apr 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12361802.	NM_014845.6(FIG4):c.1583+1G>T GRCh37: Chr6:110086365 GRCh38: Chr6:109765162	FIG4		Yunis-Varon syndrome	Uncertain significance	criteria provided, single submitter
Select item 9307213.	NM_014845.6(FIG4):c.1751-16A>G GRCh37: Chr6:110098109 GRCh38: Chr6:109776906	FIG4		Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome	Conflicting interpretations of pathogenicity (Oct 22, 2022)	criteria provided, conflicting interpretations
Select item 9304724.	NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn) GRCh37: Chr6:110107574 GRCh38: Chr6:109786371	FIG4	I673N	Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome	Uncertain significance (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9173145.	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 9170836.	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, Charcot-Marie-Tooth disease type 4, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9170777.	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 8048068.	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 8007489.	NM_014845.6(FIG4):c.968A>G (p.Gln323Arg) GRCh37: Chr6:110064404 GRCh38: Chr6:109743201	FIG4	Q323R	Yunis-Varon syndrome	Uncertain significance (Jan 29, 2019)	no assertion criteria provided
Select item 69498010.	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 67359611.	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 66221612.	NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys) GRCh37: Chr6:110146457 GRCh38: Chr6:109825254	FIG4	R905C	Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63836113.	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 58587014.	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 44733615.	NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) GRCh37: Chr6:110117975 GRCh38: Chr6:109796772	FIG4	Q823*	Yunis-Varon syndrome, not provided, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4	Pathogenic/Likely pathogenic (Jul 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42014916.	NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) GRCh37: Chr6:110059618 GRCh38: Chr6:109738415	FIG4	W246*	Inborn genetic diseases, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease type 4, not provided	Pathogenic (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40708517.	NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys) GRCh37: Chr6:110107651 GRCh38: Chr6:109786448	FIG4	R699C	Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40708218.	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 39753619.	NM_018052.5(VAC14):c.923T>A (p.Leu308Ter) GRCh37: Chr16:70815795 GRCh38: Chr16:70781892	VAC14	L308, L74	not provided	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 39753520.	NM_018052.5(VAC14):c.1895C>T (p.Thr632Met) GRCh37: Chr16:70731102 GRCh38: Chr16:70697199	VAC14	T632M, T398M	Yunis-Varon syndrome	Uncertain significance (Feb 22, 2017)	no assertion criteria provided
Select item 35504321.	NM_014845.6(FIG4):c.2096G>A (p.Arg699His) GRCh37: Chr6:110107652 GRCh38: Chr6:109786449	FIG4	R699H	Yunis-Varon syndrome, not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35503822.	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 26045023.	NM_014845.6(FIG4):c.447-16G>T GRCh37: Chr6:110053824 GRCh38: Chr6:109732621	FIG4		Charcot-Marie-Tooth disease, not specified, Amyotrophic lateral sclerosis type 11, Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26044924.	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 26044725.	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 13737726.	NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) GRCh37: Chr6:110107517 GRCh38: Chr6:109786314	FIG4	V654A	Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease type 4, not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, Charcot-Marie-Tooth disease, not specified	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13737627.	NM_014845.6(FIG4):c.27C>T (p.Ile9=) GRCh37: Chr6:110012665 GRCh38: Chr6:109691462	FIG4		Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Amyotrophic lateral sclerosis type 11, Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4J, Bilateral parasagittal parieto-occipital polymicrogyria, not specified, not provided, Charcot-Marie-Tooth disease type 4J, Inborn genetic diseases, Charcot-Marie-Tooth disease ...see more	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 5099628.	NM_014845.6(FIG4):c.524T>C (p.Leu175Pro) GRCh37: Chr6:110056379 GRCh38: Chr6:109735176	FIG4	L175P	Yunis-Varon syndrome	Pathogenic (May 2, 2013)	no assertion criteria provided
Select item 5099529.	NM_014845.6(FIG4):c.831_838del (p.Lys278fs) GRCh37: Chr6:110062701-110062708 GRCh38: Chr6:109741498-109741505	FIG4	K278fs	Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, not provided	Pathogenic (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5099430.	NM_014845.6(FIG4):c.311G>A (p.Gly104Asp) GRCh37: Chr6:110048333 GRCh38: Chr6:109727130	FIG4	G104D	Yunis-Varon syndrome	Pathogenic (May 2, 2013)	no assertion criteria provided
Select item 5099331.	NM_014845.6(FIG4):c.1260_1261del (p.Thr422fs) GRCh37: Chr6:110081575-110081576 GRCh38: Chr6:109760372-109760373	FIG4	T422fs	Yunis-Varon syndrome	Pathogenic (May 2, 2013)	no assertion criteria provided
Select item 172232.	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 172133.	NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) GRCh37: Chr6:110036336 GRCh38: Chr6:109715133	FIG4	I41T	FIG4-Related Disorders, Inborn genetic diseases, Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome, not specified, not provided, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations

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Items: 33