ClinVar for MedGen (Select 482853) - ClinVar

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

Links from MedGen

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068189	NM_002913.5(RFC1):c.2936C>T (p.Ala979Val)	RFC1 (A953V +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GUncertain significance
Select item 2577537	NM_002913.5(RFC1):c.2690+1G>A	RFC1	Single nucleotide variant (splice donor variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GPathogenic
Select item 2577536	NM_002913.5(RFC1):c.2535+2T>C	RFC1	Single nucleotide variant (splice donor variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GPathogenic
Select item 2577535	NM_002913.5(RFC1):c.575del (p.Asn192fs)	RFC1 (N192fs)	Deletion (frameshift variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GPathogenic
Select item 2577534	NM_002913.5(RFC1):c.1162C>T (p.Arg388Ter)	RFC1 (R388* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GPathogenic
Select item 1703247	NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)	RFC1 (R357* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GPathogenic/Likely pathogenic
Select item 1327951	NM_002913.5(RFC1):c.4-26G>A	RFC1	Single nucleotide variant (intron variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GBenign
Select item 1327950	NM_002913.5(RFC1):c.331+25G>T	RFC1	Single nucleotide variant (intron variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GBenign
Select item 1327949	NM_002913.5(RFC1):c.2541A>G (p.Pro847=)	RFC1	Single nucleotide variant (synonymous variant)	RFC1-related disorder +1 more	GBenign
Select item 1327948	NM_002913.5(RFC1):c.2808+36C>G	RFC1	Single nucleotide variant (intron variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GBenign
Select item 1030298	NM_002913.5(RFC1):c.398A>G (p.Asn133Ser)	RFC1 (N133S)	Single nucleotide variant (missense variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GUncertain significance
Select item 997970	NC_000004.12:g.39348425AAGGG[(400_2000)]	RFC1	Microsatellite	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GPathogenic
Select item 996311	NM_001204747.1:c.132+2923_2927AAGGG[(400_2000)]	RFC1	Microsatellite	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Gnot provided
Select item 996310	NM_001204747.1:c.132+2923_2927ACAGG[(400_2000)]	RFC1	Microsatellite	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Gnot provided
Select item 996309	NM_001204747.1:c.132+2923_2927AAAGG[(40_1000)]	RFC1	Microsatellite	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Gnot provided
Select item 996308	NM_001204747.1:c.132+2923_2927AAAAG[(12_200)]	RFC1	Microsatellite	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Gnot provided
Select item 996307	NM_002913.5(RFC1):c.132+2923=	RFC1	Microsatellite (intron variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GBenign
Select item 986302	NC_000004.12:g.39348425AAAGG[10_25]AAGGG[n]	RFC1	Microsatellite	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GPathogenic
Select item 625877	NC_000004.12:g.39348425_39348479delinsAAAGG[400_2000]	RFC1	Indel	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GPathogenic
Select item 625876	NC_000004.11:g.39350045_39350099delinsAAGGG[(400_2000)]	RFC1	Indel	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GPathogenic
Select item 625839	NC_000004.12:g.39348425AARRG[(400_2000)]	RFC1	Microsatellite	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GPathogenic
Select item 431175	NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr)	ELF2 (A4T)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GLikely 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: 22