ClinVar for MedGen (Select 766452) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020519	NM_001363118.2(SLC52A2):c.318A>G (p.Ala106=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 3016603	NM_001363118.2(SLC52A2):c.1002-7A>G	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 3005041	NM_001363118.2(SLC52A2):c.1017G>C (p.Leu339=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2995391	NM_001363118.2(SLC52A2):c.796C>T (p.Pro266Ser)	SLC52A2 (P102S +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2958992	NM_001363118.2(SLC52A2):c.1001+18G>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2910334	NM_001363118.2(SLC52A2):c.549C>T (p.Pro183=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2870538	NM_001363118.2(SLC52A2):c.858C>T (p.Thr286=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2865904	NM_001363118.2(SLC52A2):c.243C>T (p.Ile81=)	SLC52A2	Single nucleotide variant (synonymous variant +3 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2863716	NM_001363118.2(SLC52A2):c.1134G>A (p.Ser378=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2847488	NM_001363118.2(SLC52A2):c.543del (p.Gly182fs)	SLC52A2 (G94fs +1 more)	Deletion (frameshift variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GPathogenic
Select item 2841785	NM_001363118.2(SLC52A2):c.465C>T (p.Ala155=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2840454	NM_001363118.2(SLC52A2):c.54_55del (p.Phe19fs)	SLC52A2 (F19fs)	Microsatellite (frameshift variant)	Brown-Vialetto-van Laere syndrome 2	GPathogenic
Select item 2824875	NM_001363118.2(SLC52A2):c.1209G>T (p.Pro403=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2812629	NM_001363118.2(SLC52A2):c.1249C>T (p.Leu417=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2807403	NM_001363118.2(SLC52A2):c.567G>A (p.Glu189=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2799237	NM_001363118.2(SLC52A2):c.1200G>A (p.Gly400=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2776321	NM_001363118.2(SLC52A2):c.945G>T (p.Val315=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2744963	NM_001363118.2(SLC52A2):c.471G>C (p.Leu157=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2740155	NM_001363118.2(SLC52A2):c.111G>A (p.Val37=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2735232	NM_001363118.2(SLC52A2):c.292_293del (p.Leu98fs)	SLC52A2 (L10fs +1 more)	Microsatellite (frameshift variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GPathogenic
Select item 2730873	NM_001363118.2(SLC52A2):c.597A>C (p.Ala199=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2730872	NM_001363118.2(SLC52A2):c.595del (p.Ala199fs)	SLC52A2 (A111fs +1 more)	Deletion (frameshift variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GPathogenic
Select item 2727751	NM_001363118.2(SLC52A2):c.957T>C (p.Ala319=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2727532	NM_001363118.2(SLC52A2):c.131-19C>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2724860	NM_001363118.2(SLC52A2):c.231G>A (p.Glu77=)	SLC52A2	Single nucleotide variant (synonymous variant +3 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2723026	NM_001363118.2(SLC52A2):c.198C>T (p.Thr66=)	SLC52A2	Single nucleotide variant (synonymous variant +3 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2710029	NM_001363118.2(SLC52A2):c.108G>A (p.Val36=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2701173	NM_001363118.2(SLC52A2):c.1126-9C>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2700895	NM_001363118.2(SLC52A2):c.1059G>A (p.Leu353=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2690028	NM_001363118.2(SLC52A2):c.940G>A (p.Val314Met)	SLC52A2 (V150M +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2627527	NM_001363118.2(SLC52A2):c.1214T>C (p.Leu405Ser)	SLC52A2 (L241S +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2426828	NC_000008.10:g.(?_145582954)_(145584675_?)dup	SLC52A2	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2426827	NC_000008.10:g.(?_145584230)_(145584675_?)dup	SLC52A2	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2415988	NM_001363118.2(SLC52A2):c.157G>C (p.Val53Leu)	SLC52A2 (V53L)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2414257	NM_001363118.2(SLC52A2):c.780C>T (p.Thr260=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2196406	NM_001363118.2(SLC52A2):c.214G>A (p.Ala72Thr)	SLC52A2 (A72T)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2196275	NM_001363118.2(SLC52A2):c.456C>T (p.Gly152=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2162598	NM_001363118.2(SLC52A2):c.814C>T (p.Leu272=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2160940	NM_001363118.2(SLC52A2):c.477C>T (p.Cys159=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2159715	NM_001363118.2(SLC52A2):c.1272C>T (p.Phe424=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2159252	NM_001363118.2(SLC52A2):c.738G>A (p.Glu246=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2155504	NM_001363118.2(SLC52A2):c.303T>C (p.His101=)	SLC52A2	Single nucleotide variant (intron variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2153285	NM_001363118.2(SLC52A2):c.550C>T (p.Pro184Ser)	SLC52A2 (P184S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149627	NM_001363118.2(SLC52A2):c.1004C>T (p.Ser335Phe)	SLC52A2 (S171F +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2144366	NM_001363118.2(SLC52A2):c.466C>G (p.Leu156Val)	SLC52A2 (L68V +1 more)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2143979	NM_001363118.2(SLC52A2):c.216C>T (p.Ala72=)	SLC52A2	Single nucleotide variant (synonymous variant +3 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2142996	NM_001363118.2(SLC52A2):c.518C>T (p.Pro173Leu)	SLC52A2 (P173L +1 more)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2134691	NM_001363118.2(SLC52A2):c.453A>G (p.Gln151=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2131217	NM_001363118.2(SLC52A2):c.127G>C (p.Glu43Gln)	SLC52A2 (E43Q)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2120913	NM_001363118.2(SLC52A2):c.62T>A (p.Met21Lys)	SLC52A2 (M21K)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2102501	NM_001363118.2(SLC52A2):c.716G>A (p.Gly239Glu)	SLC52A2 (G239E +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2089261	NM_001363118.2(SLC52A2):c.130G>A (p.Gly44Ser)	SLC52A2 (A44T +1 more)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2088913	NM_001363118.2(SLC52A2):c.902C>T (p.Ser301Phe)	SLC52A2 (S137F +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2087764	NM_001363118.2(SLC52A2):c.479T>G (p.Val160Gly)	SLC52A2 (V72G +1 more)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2084190	NM_001363118.2(SLC52A2):c.437C>T (p.Ser146Leu)	SLC52A2 (S146L +1 more)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2077365	NM_001363118.2(SLC52A2):c.317C>T (p.Ala106Val)	SLC52A2 (A106V +1 more)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2074710	NM_001363118.2(SLC52A2):c.258G>C (p.Val86=)	SLC52A2	Single nucleotide variant (synonymous variant +3 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2069513	NM_001363118.2(SLC52A2):c.1326C>T (p.Pro442=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2061559	NM_001363118.2(SLC52A2):c.49G>T (p.Ala17Ser)	SLC52A2 (A17S)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2050746	NM_001363118.2(SLC52A2):c.955G>A (p.Ala319Thr)	SLC52A2 (A155T +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2048921	NM_001363118.2(SLC52A2):c.1002-17C>G	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2045985	NM_001363118.2(SLC52A2):c.844C>T (p.Leu282=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	SLC52A2-related condition +1 more	GLikely benign
Select item 2040072	NM_001363118.2(SLC52A2):c.154T>A (p.Ser52Thr)	SLC52A2 (S52T)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2039427	NM_001363118.2(SLC52A2):c.1303A>G (p.Ser435Gly)	SLC52A2 (S347G +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2037216	NM_001363118.2(SLC52A2):c.608T>C (p.Leu203Pro)	SLC52A2 (L115P +1 more)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2037059	NM_001363118.2(SLC52A2):c.1277dup (p.Thr427fs)	SLC52A2 (T263fs +1 more)	Duplication (frameshift variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2032290	NM_001363118.2(SLC52A2):c.1109C>T (p.Ala370Val)	SLC52A2 (A282V +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2032288	NM_001363118.2(SLC52A2):c.1075C>G (p.Leu359Val)	SLC52A2 (L271V +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2024905	NM_001363118.2(SLC52A2):c.159G>C (p.Val53=)	SLC52A2	Single nucleotide variant (synonymous variant +3 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2022349	NM_001363118.2(SLC52A2):c.282G>T (p.Leu94=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2014172	NM_001363118.2(SLC52A2):c.1232C>A (p.Ala411Asp)	SLC52A2 (A411D +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2005708	NM_001363118.2(SLC52A2):c.660A>C (p.Pro220=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2000096	NM_001363118.2(SLC52A2):c.782C>G (p.Thr261Ser)	SLC52A2 (T261S +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1999165	NM_001363118.2(SLC52A2):c.1212A>G (p.Ala404=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1991584	NM_001363118.2(SLC52A2):c.444C>T (p.Phe148=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1983858	NM_001363118.2(SLC52A2):c.1002-18T>C	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1978875	NM_001363118.2(SLC52A2):c.385A>T (p.Asn129Tyr)	SLC52A2 (N129Y +1 more)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1978286	NM_001363118.2(SLC52A2):c.1181G>C (p.Ser394Thr)	SLC52A2 (S230T +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1975679	NM_001363118.2(SLC52A2):c.327dup (p.His110fs)	SLC52A2 (H110fs)	Duplication (frameshift variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GPathogenic
Select item 1967614	NM_001363118.2(SLC52A2):c.684G>A (p.Glu228=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1967089	NM_001363118.2(SLC52A2):c.748C>T (p.Leu250=)	SLC52A2	Single nucleotide variant (non-coding transcript variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1952843	NM_001363118.2(SLC52A2):c.131-11C>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1940939	NM_001363118.2(SLC52A2):c.174G>A (p.Gly58=)	SLC52A2	Single nucleotide variant (synonymous variant +3 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1932504	NM_001363118.2(SLC52A2):c.1233C>T (p.Ala411=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1920851	NM_001363118.2(SLC52A2):c.1152C>A (p.Gly384=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1903183	NM_001363118.2(SLC52A2):c.1221A>T (p.Ala407=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1810167	NM_001363118.2(SLC52A2):c.229G>A (p.Glu77Lys)	SLC52A2 (E77K)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 1797154	NM_001363118.2(SLC52A2):c.287C>T (p.Ala96Val)	SLC52A2 (A8V +1 more)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 1739926	NM_001363118.2(SLC52A2):c.434G>A (p.Arg145Gln)	SLC52A2 (R145Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1720428	NM_001363118.2(SLC52A2):c.644T>A (p.Leu215Gln)	SLC52A2 (L127Q +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1717400	NM_001363118.2(SLC52A2):c.698T>C (p.Leu233Pro)	SLC52A2 (L145P +2 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1679320	NM_001363118.2(SLC52A2):c.916G>T (p.Gly306Trp)	SLC52A2 (G142W +1 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1672946	NM_001363118.2(SLC52A2):c.1092C>T (p.Pro364=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1664394	NM_001363118.2(SLC52A2):c.1257C>T (p.Gly419=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1664162	NM_001363118.2(SLC52A2):c.1002-11G>A	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1663894	NM_001363118.2(SLC52A2):c.1053C>A (p.Gly351=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1650653	NM_001363118.2(SLC52A2):c.130+13G>A	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1634990	NM_001363118.2(SLC52A2):c.615C>T (p.Val205=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1634209	NM_001363118.2(SLC52A2):c.1125+17A>G	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1632686	NM_001363118.2(SLC52A2):c.756G>A (p.Glu252=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign

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