ClinVar for MedGen (Select 482853) - ClinVar

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Items: 21

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25775371.	NM_002913.5(RFC1):c.2690+1G>A GRCh37: Chr4:39301879 GRCh38: Chr4:39300259	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Pathogenic (Aug 28, 2023)	no assertion criteria provided
Select item 25775362.	NM_002913.5(RFC1):c.2535+2T>C GRCh37: Chr4:39303896 GRCh38: Chr4:39302276	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Pathogenic (Aug 28, 2023)	no assertion criteria provided
Select item 25775353.	NM_002913.5(RFC1):c.575del (p.Asn192fs) GRCh37: Chr4:39328250 GRCh38: Chr4:39326630	RFC1	N192fs	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Pathogenic (Aug 28, 2023)	no assertion criteria provided
Select item 25775344.	NM_002913.5(RFC1):c.1162C>T (p.Arg388Ter) GRCh37: Chr4:39318576 GRCh38: Chr4:39316956	RFC1	R388, R362	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Pathogenic (Aug 29, 2023)	no assertion criteria provided
Select item 17032475.	NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter) GRCh37: Chr4:39318591 GRCh38: Chr4:39316971	RFC1	R357, R383	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Pathogenic/Likely pathogenic (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13279516.	NM_002913.5(RFC1):c.4-26G>A GRCh37: Chr4:39353122 GRCh38: Chr4:39351502	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Benign (Nov 7, 2021)	criteria provided, single submitter
Select item 13279507.	NM_002913.5(RFC1):c.331+25G>T GRCh37: Chr4:39343940 GRCh38: Chr4:39342320	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Benign (Nov 7, 2021)	criteria provided, single submitter
Select item 13279498.	NM_002913.5(RFC1):c.2541A>G (p.Pro847=) GRCh37: Chr4:39302029 GRCh38: Chr4:39300409	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Benign (Nov 7, 2021)	criteria provided, single submitter
Select item 13279489.	NM_002913.5(RFC1):c.2808+36C>G GRCh37: Chr4:39301605 GRCh38: Chr4:39299985	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Benign (Nov 7, 2021)	criteria provided, single submitter
Select item 103029810.	NM_002913.5(RFC1):c.398A>G (p.Asn133Ser) GRCh37: Chr4:39329310 GRCh38: Chr4:39327690	RFC1	N133S	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Uncertain significance (May 5, 2020)	criteria provided, single submitter
Select item 99797011.	NC_000004.12:g.39348425AAGGG[(400_2000)]	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Pathogenic	no assertion criteria provided
Select item 99631112.	NM_001204747.1:c.132+2923_2927AAGGG[(400_2000)]	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	not provided	no assertion provided
Select item 99631013.	NM_001204747.1:c.132+2923_2927ACAGG[(400_2000)]	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	not provided	no assertion provided
Select item 99630914.	NM_001204747.1:c.132+2923_2927AAAGG[(40_1000)]	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	not provided	no assertion provided
Select item 99630815.	NM_001204747.1:c.132+2923_2927AAAAG[(12_200)]	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	not provided	no assertion provided
Select item 99630716.	NM_002913.5(RFC1):c.132+2923= GRCh37: Chr4:39350045-39350099 GRCh38: Chr4:39348425-39348479	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Benign (Nov 19, 2020)	no assertion criteria provided
Select item 98630217.	NC_000004.12:g.39348425AAAGG[10_25]AAGGG[n] GRCh38: Chr4:39348425	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Pathogenic (Nov 18, 2020)	no assertion criteria provided
Select item 62587718.	NC_000004.11:g.39350045_39350099delinsAAAGG[(400_2000)] GRCh37: Chr4:39350045-39350099	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Pathogenic (Feb 1, 2019)	no assertion criteria provided
Select item 62587619.	NC_000004.11:g.39350045_39350099delinsAAGGG[(400_2000)] GRCh37: Chr4:39350045-39350099	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Pathogenic (Feb 1, 2019)	no assertion criteria provided
Select item 62583920.	NC_000004.12:g.39348425AARRG[(400_2000)]	RFC1		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Pathogenic (Aug 28, 2023)	no assertion criteria provided
Select item 43117521.	NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr) GRCh37: Chr4:140058846 GRCh38: Chr4:139137692	ELF2	A4T	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Likely pathogenic (Aug 3, 2017)	criteria provided, single submitter

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Items: 21