ClinVar for Gene (Select 101928008) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158015	NM_030962.4(SBF2):c.3032G>A (p.Ser1011Asn)	LOC101928008, SBF2 (S968N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158013	NM_030962.4(SBF2):c.2877G>T (p.Gln959His)	LOC101928008, SBF2 (Q916H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158012	NM_030962.4(SBF2):c.2380G>C (p.Ala794Pro)	LOC101928008, SBF2 (A806P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158011	NM_030962.4(SBF2):c.2311A>C (p.Thr771Pro)	LOC101928008, SBF2 (T728P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158010	NM_030962.4(SBF2):c.2101-3dup	LOC101928008, SBF2	Duplication (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3158008	NM_030962.4(SBF2):c.2093A>G (p.Lys698Arg)	LOC101928008, SBF2 (K655R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061004	NM_030962.4(SBF2):c.3291C>T (p.Thr1097=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	SBF2-related condition	GLikely benign
Select item 3022889	NM_030962.4(SBF2):c.2610+19C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3018811	NM_030962.4(SBF2):c.2934+17C>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3016445	NM_030962.4(SBF2):c.2289A>G (p.Thr763=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3010705	NM_030962.4(SBF2):c.2363+20C>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2989443	NM_030962.4(SBF2):c.2610+16A>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2982408	NM_030962.4(SBF2):c.3111-11A>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2977166	NM_030962.4(SBF2):c.3153G>A (p.Gly1051=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2962069	NM_030962.4(SBF2):c.3256+12C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2956036	NM_030962.4(SBF2):c.3111-7C>T	SBF2, LOC101928008	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2921152	NM_030962.4(SBF2):c.1863T>C (p.Asp621=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2	GLikely benign
Select item 2919874	NM_030962.4(SBF2):c.2886A>C (p.Leu962=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2914326	NM_030962.4(SBF2):c.3110+4A>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2914020	NM_030962.4(SBF2):c.2031G>A (p.Val677=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2910213	NM_030962.4(SBF2):c.2364-7G>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2907269	NM_030962.4(SBF2):c.2610+12C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2903646	NM_030962.4(SBF2):c.3261A>C (p.Ser1087=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2900117	NM_030962.4(SBF2):c.2010G>A (p.Glu670=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2884935	NM_030962.4(SBF2):c.2536+18A>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2879022	NM_030962.4(SBF2):c.2611-18A>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2839768	NM_030962.4(SBF2):c.3033T>C (p.Ser1011=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2836576	NM_030962.4(SBF2):c.2358A>C (p.Thr786=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2833213	NM_030962.4(SBF2):c.2083C>G (p.Pro695Ala)	LOC101928008, SBF2 (P652A +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2827396	NM_030962.4(SBF2):c.1930-9T>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2823736	NM_030962.4(SBF2):c.2610+10G>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2822346	NM_030962.4(SBF2):c.3093A>G (p.Glu1031=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2815612	NM_030962.4(SBF2):c.2448G>A (p.Val816=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2813718	NM_030962.4(SBF2):c.2244T>C (p.Ile748=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2798461	NM_030962.4(SBF2):c.2807-11T>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2784661	NM_030962.4(SBF2):c.2325T>C (p.Gly775=)	SBF2, LOC101928008	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2777599	NM_030962.4(SBF2):c.2058C>G (p.Leu686=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2771610	NM_030962.4(SBF2):c.2783G>T (p.Arg928Ile)	LOC101928008, SBF2 (R885I +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2764328	NM_030962.4(SBF2):c.3110+14C>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2752406	NM_030962.4(SBF2):c.2935-15C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2751219	NM_030962.4(SBF2):c.2611-5G>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2747390	NM_030962.4(SBF2):c.2016C>G (p.Thr672=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2718215	NM_030962.4(SBF2):c.3110+10_3110+13del	LOC101928008, SBF2	Microsatellite (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2716996	NM_030962.4(SBF2):c.2838C>T (p.Pro946=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2698122	NM_030962.4(SBF2):c.2610G>A (p.Lys870=)	SBF2, LOC101928008	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2684337	NM_030962.4(SBF2):c.3454A>G (p.Ser1152Gly)	LOC101928008, SBF2 (S1109G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684336	NM_030962.4(SBF2):c.2947G>A (p.Ala983Thr)	LOC101928008, SBF2 (A940T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2665001	NM_030962.4(SBF2):c.2329del (p.Trp777fs)	LOC101928008, SBF2 (W734fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4B2	GLikely pathogenic
Select item 2641594	NM_030962.4(SBF2):c.2307A>G (p.Leu769=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617884	NM_030962.4(SBF2):c.1980C>A (p.His660Gln)	LOC101928008, SBF2 (H660Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615053	NM_030962.4(SBF2):c.2699A>T (p.Glu900Val)	LOC101928008, SBF2 (E900V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407827	NM_030962.4(SBF2):c.2462G>A (p.Arg821Gln)	LOC101928008, SBF2 (R778Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389944	NM_030962.4(SBF2):c.2213A>G (p.His738Arg)	LOC101928008, SBF2 (H695R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2320445	NM_030962.4(SBF2):c.2135C>T (p.Thr712Ile)	LOC101928008, SBF2 (T669I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297640	NM_030962.4(SBF2):c.2996A>G (p.Gln999Arg)	LOC101928008, SBF2 (Q956R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2185536	NM_030962.4(SBF2):c.2079T>C (p.His693=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2183072	NM_030962.4(SBF2):c.1928G>A (p.Arg643Lys)	LOC101928008, SBF2 (R643K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2181102	NM_030962.4(SBF2):c.3329T>C (p.Val1110Ala)	LOC101928008, SBF2 (V1067A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2178831	NM_030962.4(SBF2):c.2513A>G (p.Lys838Arg)	LOC101928008, SBF2 (K795R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 2177804	NM_030962.4(SBF2):c.2934+16G>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2161600	NM_030962.4(SBF2):c.1929+13G>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2159790	NM_030962.4(SBF2):c.2904A>G (p.Glu968=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2156742	NM_030962.4(SBF2):c.3257-9C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2153961	NM_030962.4(SBF2):c.2536+14A>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2153752	NM_030962.4(SBF2):c.2101-14G>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2150477	NM_030962.4(SBF2):c.1930-6T>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2150476	NM_030962.4(SBF2):c.2220A>G (p.Glu740=)	SBF2, LOC101928008	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2147343	NM_030962.4(SBF2):c.2839A>G (p.Ile947Val)	LOC101928008, SBF2 (I947V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2145663	NM_030962.4(SBF2):c.2934+11dup	LOC101928008, SBF2	Duplication (intron variant)	Charcot-Marie-Tooth disease type 4	GBenign
Select item 2145285	NM_030962.4(SBF2):c.2611-35AATC[3]	LOC101928008, SBF2	Microsatellite (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2143706	NM_030962.4(SBF2):c.2611-9T>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2131640	NM_030962.4(SBF2):c.3021G>A (p.Gln1007=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2128335	NM_030962.4(SBF2):c.3084A>C (p.Lys1028Asn)	LOC101928008, SBF2 (K985N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2124663	NM_030962.4(SBF2):c.2287dup (p.Thr763fs)	LOC101928008, SBF2 (T720fs +1 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2116846	NM_030962.4(SBF2):c.2023A>C (p.Asn675His)	LOC101928008, SBF2 (N632H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2114853	NM_030962.4(SBF2):c.1925A>G (p.Tyr642Cys)	LOC101928008, SBF2 (Y599C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2107016	NM_030962.4(SBF2):c.3087G>T (p.Gln1029His)	LOC101928008, SBF2 (Q986H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2100541	NM_030962.4(SBF2):c.2806+18A>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2090316	NM_030962.4(SBF2):c.2848A>C (p.Ile950Leu)	LOC101928008, SBF2 (I907L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2090315	NM_030962.4(SBF2):c.2850_2851insGCCT (p.Thr951fs)	LOC101928008, SBF2 (T951fs +1 more)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2086691	NM_030962.4(SBF2):c.2041G>A (p.Val681Ile)	LOC101928008, SBF2 (V681I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2084862	NM_030962.4(SBF2):c.2205A>G (p.Leu735=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2083516	NM_030962.4(SBF2):c.3257-18C>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2083233	NM_030962.4(SBF2):c.3257-16_3257-15del	LOC101928008, SBF2	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2077376	NM_030962.4(SBF2):c.2293A>G (p.Lys765Glu)	LOC101928008, SBF2 (K765E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2077351	NM_030962.4(SBF2):c.1929+4A>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2077046	NM_030962.4(SBF2):c.2149G>A (p.Ala717Thr)	LOC101928008, SBF2 (A717T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2072019	NM_030962.4(SBF2):c.2531T>A (p.Ile844Lys)	LOC101928008, SBF2 (I844K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2067951	NM_030962.4(SBF2):c.2128_2130del (p.Glu710del)	LOC101928008, SBF2 (E667del +1 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2054354	NM_030962.4(SBF2):c.2206G>A (p.Val736Met)	LOC101928008, SBF2 (V693M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2052112	NM_030962.4(SBF2):c.2798A>G (p.Asp933Gly)	LOC101928008, SBF2 (D890G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2051545	NM_030962.4(SBF2):c.2492G>C (p.Gly831Ala)	LOC101928008, SBF2 (G788A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2050157	NM_030962.4(SBF2):c.2935-12T>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2049642	NM_030962.4(SBF2):c.2806+8T>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2048988	NM_030962.4(SBF2):c.3279C>T (p.Pro1093=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2048708	NM_030962.4(SBF2):c.2975TAG[1] (p.Val993del)	LOC101928008, SBF2 (V993del +1 more)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2046312	NM_030962.4(SBF2):c.3214A>G (p.Arg1072Gly)	LOC101928008, SBF2 (R1072G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2041669	NM_030962.4(SBF2):c.3057A>G (p.Gln1019=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2035001	NM_030962.4(SBF2):c.3357G>A (p.Gln1119=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2029615	NM_030962.4(SBF2):c.2601T>C (p.Pro867=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign

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