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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225696	NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)	ATAD3A (R528W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GPathogenic/Likely pathogenic
Select item 372833	NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)	TMEM240 (G66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3024332	NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)	GNB1 (G172R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +2 more	GLikely pathogenic
Select item 775489	NM_002074.5(GNB1):c.462C>T (p.Asp154=)	GNB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1562666	NM_002074.5(GNB1):c.402C>T (p.Arg134=)	GNB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute lymphoid leukemia +2 more	GPathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral palsy +7 more	GPathogenic/Likely pathogenic
Select item 224711	NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)	GNB1 (D76G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 3236030	NM_015102.5(NPHP4):c.3959T>C (p.Leu1320Pro)	NPHP4 (L1320P +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4	GUncertain significance
Select item 3370326	NM_015102.5(NPHP4):c.3641A>G (p.Tyr1214Cys)	NPHP4 (Y1214C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4	GLikely pathogenic
Select item 3066276	NM_015102.5(NPHP4):c.793C>T (p.Gln265Ter)	NPHP4 (Q265*)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis 4	GPathogenic
Select item 3236773	NM_015557.3(CHD5):c.4030C>T (p.Arg1344Cys)	CHD5 (R1344C)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 1992402	NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn)	CAMTA1 (D456N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3236366	NM_015215.4(CAMTA1):c.3350C>T (p.Ala1117Val)	CAMTA1 (A1087V +4 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 987356	NM_007262.5(PARK7):c.471_473del (p.Pro158del)	PARK7 (P158del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3236006	NM_001042681.2(RERE):c.1104+1G>C	RERE	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 871050	NM_022787.4(NMNAT1):c.364del (p.Arg122fs)	NMNAT1 (R122fs)	Deletion (frameshift variant)	Leber congenital amaurosis 9 +1 more	GPathogenic
Select item 871051	NM_022787.4(NMNAT1):c.634G>A (p.Val212Met)	NMNAT1 (V212M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +1 more	GConflicting classifications of pathogenicity
Select item 291459	NM_001365951.3(KIF1B):c.-136C>T	KIF1B	Single nucleotide variant (5 prime UTR variant)	Neuroblastoma +1 more	GBenign
Select item 1327573	NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)	LOC129388446, KIF1B (S34L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 291464	NM_001365951.3(KIF1B):c.107-8T>A	KIF1B	Single nucleotide variant (intron variant)	Neuroblastoma +1 more	GConflicting classifications of pathogenicity
Select item 291465	NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)	KIF1B (S49Y)	Single nucleotide variant (missense variant)	Neuroblastoma +4 more	GConflicting classifications of pathogenicity
Select item 874554	NM_001365951.3(KIF1B):c.159C>T (p.Asp53=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 291466	NM_001365951.3(KIF1B):c.168C>T (p.Tyr56=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 260541	NM_001365951.3(KIF1B):c.184-6_184-5del	KIF1B	Deletion (intron variant)	Charcot-Marie-Tooth disease type 2 +4 more	GBenign/Likely benign
Select item 642188	NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)	KIF1B (R72H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 874555	NM_001365951.3(KIF1B):c.264A>G (p.Gly88=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 129399	NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)	KIF1B	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 291467	NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)	KIF1B	Single nucleotide variant (synonymous variant)	Pheochromocytoma +4 more	GConflicting classifications of pathogenicity
Select item 291468	NM_001365951.3(KIF1B):c.363+6A>C	KIF1B	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 291469	NM_001365951.3(KIF1B):c.364-15A>G	KIF1B, LOC129388447	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 291470	NM_001365951.3(KIF1B):c.364-10A>G	LOC129388447, KIF1B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875478	NM_001365951.3(KIF1B):c.429+7A>G	KIF1B, LOC129388447	Single nucleotide variant (intron variant)	Neuroblastoma +1 more	GLikely benign
Select item 1333979	NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val)	KIF1B (I149V)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 220468	NM_001365951.3(KIF1B):c.608+8dup	KIF1B	Duplication (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 875479	NM_001365951.3(KIF1B):c.706C>G (p.Leu236Val)	KIF1B (L236V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 260542	NM_001365951.3(KIF1B):c.720+17C>T	KIF1B	Single nucleotide variant (intron variant)	Pheochromocytoma +5 more	GBenign
Select item 291472	NM_001365951.3(KIF1B):c.721-15A>G	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 874751	NM_001365951.3(KIF1B):c.883-15C>T	KIF1B	Single nucleotide variant (intron variant)	Neuroblastoma +1 more	GConflicting classifications of pathogenicity
Select item 291501	NM_001365951.3(KIF1B):c.883-10_883-7del	KIF1B	Deletion (intron variant)	Pheochromocytoma +2 more	GConflicting classifications of pathogenicity
Select item 874752	NM_001365951.3(KIF1B):c.999C>T (p.Pro333=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 476791	NM_001365951.3(KIF1B):c.1014C>T (p.Tyr338=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 291510	NM_001365951.3(KIF1B):c.1038-5del	KIF1B	Deletion (intron variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 874847	NM_001365951.3(KIF1B):c.1306A>G (p.Met436Val)	KIF1B (M390V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 291520	NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=)	KIF1B	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 291522	NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 875785	NM_001365951.3(KIF1B):c.1376G>A (p.Ser459Asn)	KIF1B (S459N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 875939	NM_001365951.3(KIF1B):c.1435-15C>T	KIF1B	Single nucleotide variant (intron variant)	Neuroblastoma +1 more	GBenign/Likely benign
Select item 408309	NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)	KIF1B (I523V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 177960	NM_001365951.3(KIF1B):c.1777+10C>T	KIF1B	Single nucleotide variant (intron variant)	Neuroblastoma +6 more	GBenign
Select item 291552	NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile)	KIF1B (T606I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 283154	NM_001365951.3(KIF1B):c.2115+6956A>G	KIF1B (E1006G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1320291	NM_001365951.3(KIF1B):c.2174C>T (p.Ala725Val)	KIF1B (A679V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 240956	NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg)	KIF1B (W703R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 240957	NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser)	KIF1B (N731S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 875118	NM_001365951.3(KIF1B):c.2516A>G (p.Tyr839Cys)	KIF1B (Y839C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 215880	NM_001365951.3(KIF1B):c.2593A>C (p.Ser865Arg)	KIF1B (S819R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 215881	NM_001365951.3(KIF1B):c.2604C>T (p.Asp868=)	KIF1B	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 373920	NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)	KIF1B (E825K +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 4660	NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)	KIF1B (T827I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 291562	NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser)	LOC126805614, KIF1B (G898S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma +2 more	GUncertain significance
Select item 845482	NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)	KIF1B, LOC126805614 (T949M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GUncertain significance
Select item 291563	NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 699521	NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)	KIF1B	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 291564	NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 291565	NM_001365951.3(KIF1B):c.3129+11G>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 876068	NM_001365951.3(KIF1B):c.3141G>A (p.Ser1047=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1320293	NM_001365951.3(KIF1B):c.3163G>T (p.Gly1055Cys)	KIF1B (G1009C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 291566	NM_001365951.3(KIF1B):c.3259+9A>G	KIF1B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1728203	NM_001365951.3(KIF1B):c.3290A>G (p.Lys1097Arg)	KIF1B (K1097R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 291567	NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys)	KIF1B (Y1087C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 291569	NM_001365951.3(KIF1B):c.3423-15A>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +2 more	GBenign
Select item 291568	NM_001365951.3(KIF1B):c.3423-15del	KIF1B	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1032652	NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)	KIF1B (R1145H +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 291570	NM_001365951.3(KIF1B):c.3456G>A (p.Thr1152=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 876069	NM_001365951.3(KIF1B):c.3513+7G>T	KIF1B	Single nucleotide variant (intron variant)	Neuroblastoma	GUncertain significance
Select item 291571	NM_001365951.3(KIF1B):c.3636G>A (p.Pro1212=)	KIF1B	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 196788	NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 291572	NM_001365951.3(KIF1B):c.3654A>G (p.Arg1218=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 291573	NM_001365951.3(KIF1B):c.3725G>T (p.Ser1242Ile)	KIF1B (S1196I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 877031	NM_001365951.3(KIF1B):c.3740T>C (p.Met1247Thr)	KIF1B (M1201T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2445412	NM_001365951.3(KIF1B):c.3767T>C (p.Phe1256Ser)	KIF1B (F1210S +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 4661	NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)	KIF1B (P1217S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma +2 more	GConflicting classifications of pathogenicity
Select item 877032	NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 291575	NM_001365951.3(KIF1B):c.3864+6A>C	KIF1B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 543261	NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +3 more	GBenign/Likely benign
Select item 874242	NM_001365951.3(KIF1B):c.3953G>A (p.Arg1318His)	KIF1B (R1272H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 874243	NM_001365951.3(KIF1B):c.4037C>G (p.Ser1346Cys)	KIF1B (S1300C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 240958	NM_001365951.3(KIF1B):c.4055+6A>G	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 291576	NM_001365951.3(KIF1B):c.4067G>A (p.Arg1356His)	KIF1B (R1310H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 291577	NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 291578	NM_001365951.3(KIF1B):c.4155G>T (p.Leu1385Phe)	KIF1B (L1339F +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma +2 more	GConflicting classifications of pathogenicity
Select item 291579	NM_001365951.3(KIF1B):c.4179T>C (p.His1393=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 155750	NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)	KIF1B (V1358A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 291580	NM_001365951.3(KIF1B):c.4265G>A (p.Arg1422His)	KIF1B (R1376H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 875167	NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)	KIF1B (G1382S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 129400	NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma +4 more	GBenign
Select item 1738516	NM_001365951.3(KIF1B):c.4321A>T (p.Ile1441Phe)	KIF1B (I1395F +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 696808	NM_001365951.3(KIF1B):c.4338A>G (p.Leu1446=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma +3 more	GBenign/Likely benign
Select item 875168	NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His)	KIF1B (R1469H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

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