5981[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153075	GRCh38/hg38 4p14(chr4:39222108-39491610)x3	KLB, LIAS +9 more	Copy number gain	See cases	GBenign
Select item 2654728	NM_002913.5(RFC1):c.3442T>A (p.Ter1148Arg)	RFC1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2332016	NM_002913.5(RFC1):c.3382C>T (p.Pro1128Ser)	RFC1 (P1128S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715711	NM_002913.5(RFC1):c.3363A>G (p.Lys1121=)	RFC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2252373	NM_002913.5(RFC1):c.3334G>C (p.Ala1112Pro)	RFC1 (A1086P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398690	NM_002913.5(RFC1):c.3275C>T (p.Ser1092Leu)	RFC1 (S1092L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153346	NM_002913.5(RFC1):c.3125G>A (p.Ser1042Asn)	RFC1 (S1042N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153345	NM_002913.5(RFC1):c.3062T>C (p.Val1021Ala)	RFC1 (V996A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615207	NM_002913.5(RFC1):c.3037G>A (p.Gly1013Arg)	RFC1 (G988R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338911	NM_002913.5(RFC1):c.3016G>T (p.Val1006Leu)	RFC1 (V1007L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242014	NM_002913.5(RFC1):c.3013C>T (p.Leu1005Phe)	RFC1 (L979F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153344	NM_002913.5(RFC1):c.2995T>G (p.Ser999Ala)	RFC1 (S974A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550138	NM_002913.5(RFC1):c.2983A>G (p.Met995Val)	RFC1 (M969V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2507967	NM_002913.5(RFC1):c.2918G>A (p.Arg973His)	RFC1 (R948H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734652	NM_002913.5(RFC1):c.2860C>A (p.Gln954Lys)	RFC1 (Q954K +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2222795	NM_002913.5(RFC1):c.2854A>C (p.Met952Leu)	RFC1 (M926L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 +1 more	GBenign
Select item 3313839	NM_002913.5(RFC1):c.2794C>T (p.Leu932Phe)	RFC1 (L906F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359770	NM_002913.5(RFC1):c.2773C>T (p.Arg925Trp)	RFC1 (R899W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3313840	NM_002913.5(RFC1):c.2635A>G (p.Ile879Val)	RFC1 (I879V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519115	NM_002913.5(RFC1):c.2624A>G (p.His875Arg)	RFC1 (H849R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153343	NM_002913.5(RFC1):c.2615T>C (p.Leu872Pro)	RFC1 (L872P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327949	NM_002913.5(RFC1):c.2541A>G (p.Pro847=)	RFC1	Single nucleotide variant (synonymous variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome +1 more	GBenign
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 3059082	NM_002913.5(RFC1):c.2508T>C (p.Ser836=)	RFC1	Single nucleotide variant (synonymous variant)	RFC1-related disorder	GBenign
Select item 2542378	NM_002913.5(RFC1):c.2501C>G (p.Ala834Gly)	RFC1 (A834G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319156	NM_002913.5(RFC1):c.2494G>C (p.Ala832Pro)	RFC1 (A807P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234872	NM_002913.5(RFC1):c.2460G>C (p.Trp820Cys)	RFC1 (W820C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478209	NM_002913.5(RFC1):c.2437G>A (p.Val813Ile)	RFC1 (V787I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289945	NM_002913.5(RFC1):c.2384C>A (p.Pro795His)	RFC1 (P796H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591051	NM_002913.5(RFC1):c.2380A>T (p.Ile794Phe)	RFC1 (I795F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290911	NM_002913.5(RFC1):c.2357T>C (p.Ile786Thr)	RFC1 (I786T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153341	NM_002913.5(RFC1):c.2291A>C (p.His764Pro)	RFC1 (H739P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153340	NM_002913.5(RFC1):c.2275A>G (p.Ile759Val)	RFC1 (I733V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049965	NM_002913.5(RFC1):c.2248A>G (p.Met750Val)	RFC1 (M724V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578960	NM_002913.5(RFC1):c.2184G>A (p.Glu728=)	RFC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3153339	NM_002913.5(RFC1):c.2135C>T (p.Thr712Met)	RFC1 (T686M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3341313	NM_002913.5(RFC1):c.2111-1G>C	RFC1	Single nucleotide variant (splice acceptor variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GLikely pathogenic
Select item 785086	NM_002913.5(RFC1):c.2073G>C (p.Glu691Asp)	RFC1 (E665D +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3052431	NM_002913.5(RFC1):c.2064T>C (p.Ile688=)	RFC1	Single nucleotide variant (synonymous variant)	RFC1-related disorder	GBenign
Select item 3153338	NM_002913.5(RFC1):c.2050A>G (p.Ser684Gly)	RFC1 (S684G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981861	NM_002913.5(RFC1):c.2011T>A (p.Tyr671Asn)	RFC1 (Y645N +3 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2531666	NM_002913.5(RFC1):c.2002G>A (p.Gly668Arg)	RFC1 (G643R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610104	NM_002913.5(RFC1):c.1991G>T (p.Cys664Phe)	RFC1 (C638F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486957	NM_002913.5(RFC1):c.1960G>A (p.Val654Ile)	RFC1 (V654I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596881	NM_002913.5(RFC1):c.1937C>T (p.Ala646Val)	RFC1 (A647V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153336	NM_002913.5(RFC1):c.1906G>A (p.Gly636Ser)	RFC1 (G636S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490416	NM_002913.5(RFC1):c.1895G>A (p.Gly632Asp)	RFC1 (G633D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207442	NM_002913.5(RFC1):c.1870G>A (p.Glu624Lys)	RFC1 (E598K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207986	NM_002913.5(RFC1):c.1810G>A (p.Asp604Asn)	RFC1 (D578N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398830	NM_002913.5(RFC1):c.1802A>G (p.Gln601Arg)	RFC1 (Q575R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720920	NM_002913.5(RFC1):c.1792A>G (p.Ile598Val)	RFC1 (I572V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2402562	NM_002913.5(RFC1):c.1636A>G (p.Thr546Ala)	RFC1 (T546A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456518	NM_002913.5(RFC1):c.1277C>T (p.Ala426Val)	RFC1 (A400V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736527	NM_002913.5(RFC1):c.1267C>A (p.Arg423=)	RFC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341312	NM_002913.5(RFC1):c.1255del (p.Glu419fs)	RFC1 (E393fs +1 more)	Deletion (frameshift variant)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GLikely pathogenic
Select item 3313841	NM_002913.5(RFC1):c.1231A>G (p.Ile411Val)	RFC1 (I385V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226292	NM_002913.5(RFC1):c.1174A>G (p.Lys392Glu)	RFC1 (K392E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335760	NM_002913.5(RFC1):c.1167A>C (p.Glu389Asp)	RFC1 (E363D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3153335	NM_002913.5(RFC1):c.1126C>T (p.Arg376Cys)	RFC1 (R350C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153334	NM_002913.5(RFC1):c.1076G>A (p.Ser359Asn)	RFC1 (S359N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736368	NM_002913.5(RFC1):c.1052C>T (p.Thr351Ile)	RFC1 (T351I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3044094	NM_002913.5(RFC1):c.1037A>G (p.Lys346Arg)	RFC1 (K320R +1 more)	Single nucleotide variant (missense variant)	RFC1-related disorder	GBenign
Select item 2617571	NM_002913.5(RFC1):c.1009G>C (p.Ala337Pro)	RFC1 (A311P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623814	NM_002913.5(RFC1):c.761T>C (p.Val254Ala)	RFC1 (V254A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654729	NM_002913.5(RFC1):c.750G>A (p.Thr250=)	RFC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2470100	NM_002913.5(RFC1):c.749C>T (p.Thr250Met)	RFC1 (T250M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409171	NM_002913.5(RFC1):c.740C>T (p.Ala247Val)	RFC1 (A247V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495113	NM_002913.5(RFC1):c.681A>T (p.Arg227Ser)	RFC1 (R227S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383974	NM_002913.5(RFC1):c.638C>T (p.Ala213Val)	RFC1 (A213V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362272	NM_002913.5(RFC1):c.610G>A (p.Ala204Thr)	RFC1 (A204T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2607120	NM_002913.5(RFC1):c.472A>G (p.Ile158Val)	RFC1 (I158V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493509	NM_002913.5(RFC1):c.427A>G (p.Lys143Glu)	RFC1 (K143E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2490895	NM_002913.5(RFC1):c.349A>G (p.Met117Val)	RFC1 (M117V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2461115	NM_002913.5(RFC1):c.332A>T (p.Asp111Val)	RFC1 (D111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 +1 more	GBenign
Select item 2458908	NM_002913.5(RFC1):c.302A>G (p.Gln101Arg)	RFC1 (Q101R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252955	NM_002913.5(RFC1):c.301C>G (p.Gln101Glu)	RFC1 (Q101E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596407	NM_002913.5(RFC1):c.299G>A (p.Arg100Gln)	RFC1 (R100Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532807	NM_002913.5(RFC1):c.281A>G (p.Lys94Arg)	RFC1 (K94R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266472	NM_002913.5(RFC1):c.253C>T (p.Pro85Ser)	RFC1 (P85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486058	NM_002913.5(RFC1):c.233A>G (p.Gln78Arg)	RFC1 (Q78R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053750	NM_002913.5(RFC1):c.209-6A>T	RFC1	Single nucleotide variant (intron variant)	RFC1-related disorder	GBenign
Select item 2484071	NM_002913.5(RFC1):c.146G>A (p.Arg49His)	RFC1 (R49H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048346	NM_002913.5(RFC1):c.133-4A>G	RFC1	Single nucleotide variant (intron variant)	RFC1-related disorder	GLikely benign
Select item 1333160	(AAGGG)exp	RFC1	Microsatellite	Parkinson disease, late-onset	GPathogenic
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

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