SLC52A2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1246665	NM_001363118.2(SLC52A2):c.-111+15A>G	SLC52A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194122	NM_001363118.2(SLC52A2):c.-110-35C>G	SLC52A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489081	NM_001363118.2(SLC52A2):c.-110-7T>G	SLC52A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 380872	NM_001363118.2(SLC52A2):c.-110-5T>C	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2 +2 more	GBenign
Select item 1304288	NM_001363118.2(SLC52A2):c.-110-4C>G	SLC52A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 549670	NM_001363118.2(SLC52A2):c.-110-1G>A	SLC52A2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 420352	NM_001363118.2(SLC52A2):c.-106AAG[1]	SLC52A2	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 383420	NM_001363118.2(SLC52A2):c.-44C>T	SLC52A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1508297	NM_001363118.2(SLC52A2):c.11C>G (p.Pro4Arg)	SLC52A2 (P4R)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 653493	NM_001363118.2(SLC52A2):c.13A>T (p.Thr5Ser)	SLC52A2 (T5S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 846798	NM_001363118.2(SLC52A2):c.22C>T (p.Arg8Cys)	SLC52A2 (R8C)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1308493	NM_001363118.2(SLC52A2):c.23G>A (p.Arg8His)	SLC52A2 (R8H)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 1304289	NM_001363118.2(SLC52A2):c.26C>G (p.Pro9Arg)	SLC52A2 (P9R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1010102	NM_001363118.2(SLC52A2):c.28G>A (p.Val10Met)	SLC52A2 (V10M)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 512756	NM_001363118.2(SLC52A2):c.36C>T (p.Thr12=)	SLC52A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1498296	NM_001363118.2(SLC52A2):c.44T>A (p.Leu15Gln)	SLC52A2 (L15Q)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1394454	NM_001363118.2(SLC52A2):c.45G>A (p.Leu15=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
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 2840454	NM_001363118.2(SLC52A2):c.54_55del (p.Phe19fs)	SLC52A2 (F19fs)	Microsatellite (frameshift variant)	Brown-Vialetto-van Laere syndrome 2	GPathogenic
Select item 1804459	NM_001363118.2(SLC52A2):c.61A>T (p.Met21Leu)	SLC52A2 (M21L)	Single nucleotide variant (missense variant)	not provided	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 473206	NM_001363118.2(SLC52A2):c.63G>T (p.Met21Ile)	SLC52A2 (M21I)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 568898	NM_001363118.2(SLC52A2):c.68C>A (p.Ser23Tyr)	SLC52A2 (S23Y)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1509247	NM_001363118.2(SLC52A2):c.77C>T (p.Ala26Val)	SLC52A2 (A26V)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 581927	NM_001363118.2(SLC52A2):c.83A>G (p.Asn28Ser)	SLC52A2 (N28S)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 576124	NM_001363118.2(SLC52A2):c.116_130+83del	SLC52A2	Deletion (splice donor variant)	Brown-Vialetto-van Laere syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 387516	NM_001363118.2(SLC52A2):c.84T>C (p.Asn28=)	SLC52A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 847589	NM_001363118.2(SLC52A2):c.87G>T (p.Gly29=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 210037	NM_001363118.2(SLC52A2):c.92G>C (p.Trp31Ser)	SLC52A2 (W31S)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	Gnot provided
Select item 245818	NM_001363118.2(SLC52A2):c.107T>G (p.Val36Gly)	SLC52A2 (V36G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 2309501	NM_001363118.2(SLC52A2):c.112G>C (p.Val38Leu)	SLC52A2 (V38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 579817	NM_001363118.2(SLC52A2):c.116A>G (p.Lys39Arg)	SLC52A2 (K39R)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2 +2 more	GUncertain significance
Select item 1419826	NM_001363118.2(SLC52A2):c.122T>C (p.Leu41Pro)	SLC52A2 (L41P)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 1596028	NM_001363118.2(SLC52A2):c.123T>C (p.Leu41=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1481381	NM_001363118.2(SLC52A2):c.124C>T (p.Pro42Ser)	SLC52A2 (P42S)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1185143	NM_001363118.2(SLC52A2):c.124C>G (p.Pro42Ala)	SLC52A2 (P42A)	Single nucleotide variant (missense variant)	Auditory neuropathy spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 473199	NM_001363118.2(SLC52A2):c.126A>C (p.Pro42=)	SLC52A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	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 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 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 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 1598085	NM_001363118.2(SLC52A2):c.131-16C>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1573082	NM_001363118.2(SLC52A2):c.131-12C>T	SLC52A2	Single nucleotide variant (intron variant)	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 1123224	NM_001363118.2(SLC52A2):c.131-11C>G	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1586224	NM_001363118.2(SLC52A2):c.131-8C>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 705360	NM_001363118.2(SLC52A2):c.131-7C>T	SLC52A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 580165	NM_001363118.2(SLC52A2):c.131-1G>C	SLC52A2	Single nucleotide variant (splice acceptor variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely pathogenic
Select item 422163	NM_001363118.2(SLC52A2):c.135G>T (p.Trp45Cys)	SLC52A2 (W45C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 575643	NM_001363118.2(SLC52A2):c.143C>T (p.Pro48Leu)	SLC52A2 (P48L)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 473200	NM_001363118.2(SLC52A2):c.144C>G (p.Pro48=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1047525	NM_001363118.2(SLC52A2):c.145T>C (p.Ser49Pro)	SLC52A2 (S49P)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1773329	NM_001363118.2(SLC52A2):c.146C>T (p.Ser49Phe)	SLC52A2 (S49F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 708931	NM_001363118.2(SLC52A2):c.147T>C (p.Ser49=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 419108	NM_001363118.2(SLC52A2):c.149dup (p.Tyr50Ter)	SLC52A2 (Y50*)	Duplication (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 1582192	NM_001363118.2(SLC52A2):c.150C>T (p.Tyr50=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 944599	NM_001363118.2(SLC52A2):c.151G>A (p.Val51Ile)	SLC52A2 (V51I)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
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 1723848	NM_001363118.2(SLC52A2):c.154T>C (p.Ser52Pro)	SLC52A2 (S52P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 40231	NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe)	SLC52A2 (S52F)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
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 1423007	NM_001363118.2(SLC52A2):c.157G>T (p.Val53Leu)	SLC52A2 (V53L)	Single nucleotide variant (missense variant +2 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 945185	NM_001363118.2(SLC52A2):c.164T>C (p.Val55Ala)	SLC52A2 (V55A)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1297712	NM_001363118.2(SLC52A2):c.167C>T (p.Ala56Val)	SLC52A2 (A56V)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 1091197	NM_001363118.2(SLC52A2):c.169C>T (p.Leu57=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	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 1493748	NM_001363118.2(SLC52A2):c.176A>G (p.Asn59Ser)	SLC52A2 (N59S)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1157939	NM_001363118.2(SLC52A2):c.177C>T (p.Asn59=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1378171	NM_001363118.2(SLC52A2):c.178C>G (p.Leu60Val)	SLC52A2 (L60V)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 390102	NM_001363118.2(SLC52A2):c.178C>T (p.Leu60=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 1390535	NM_001363118.2(SLC52A2):c.184C>G (p.Leu62Val)	SLC52A2 (L62V)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1118371	NM_001363118.2(SLC52A2):c.192G>C (p.Val64=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1115797	NM_001363118.2(SLC52A2):c.192G>T (p.Val64=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1064000	NM_001363118.2(SLC52A2):c.193G>A (p.Val65Met)	SLC52A2 (V65M)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1444612	NM_001363118.2(SLC52A2):c.197C>T (p.Thr66Ile)	SLC52A2 (T66I)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
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 1025204	NM_001363118.2(SLC52A2):c.209G>A (p.Arg70Lys)	SLC52A2 (R70K)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
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 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 642607	NM_001363118.2(SLC52A2):c.217C>T (p.Pro73Ser)	SLC52A2 (P73S)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 764597	NM_001363118.2(SLC52A2):c.219A>G (p.Pro73=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1520932	NM_001363118.2(SLC52A2):c.224A>G (p.Lys75Arg)	SLC52A2 (K75R)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 504418	NM_001363118.2(SLC52A2):c.227_247del (p.Asp76_Arg82del)	SLC52A2	Deletion (inframe_deletion +2 more)	not provided	GLikely pathogenic
Select item 1021703	NM_001363118.2(SLC52A2):c.226G>A (p.Asp76Asn)	SLC52A2 (D76N)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 384746	NM_001363118.2(SLC52A2):c.228C>T (p.Asp76=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	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 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 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 959811	NM_001363118.2(SLC52A2):c.244C>T (p.Arg82Trp)	SLC52A2 (R82W)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 839902	NM_001363118.2(SLC52A2):c.245G>A (p.Arg82Gln)	SLC52A2 (R82Q)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 246544	NM_001363118.2(SLC52A2):c.245G>C (p.Arg82Pro)	SLC52A2 (R82P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1604773	NM_001363118.2(SLC52A2):c.246G>A (p.Arg82=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
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 1407435	NM_001363118.2(SLC52A2):c.266T>C (p.Met89Thr)	SLC52A2 (M89T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 840383	NM_001363118.2(SLC52A2):c.275C>T (p.Thr92Ile)	SLC52A2 (T92I)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1458358	NM_001363118.2(SLC52A2):c.279_283del (p.Leu94fs)	SLC52A2 (L94fs)	Deletion (frameshift variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GPathogenic
Select item 664998	NM_001363118.2(SLC52A2):c.280C>G (p.Leu94Val)	SLC52A2 (L94V)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance

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