"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 313871	NM_015346.4(ZFYVE26):c.7617G>A (p.Lys2539=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 313873	NM_015346.4(ZFYVE26):c.7586C>G (p.Pro2529Arg)	ZFYVE26 (P2529R)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 241060	NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 215520	NM_015346.4(ZFYVE26):c.7417-5G>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 241059	NM_015346.4(ZFYVE26):c.7407T>C (p.Asp2469=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 15 +4 more	GBenign
Select item 220663	NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His)	ZFYVE26 (R2411H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 188338	NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)	ZFYVE26 (T2352I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 241058	NM_015346.4(ZFYVE26):c.6987-3C>T	ZFYVE26	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 807131	NM_015346.4(ZFYVE26):c.6973G>A (p.Ala2325Thr)	ZFYVE26 (A2325T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 241057	NM_015346.4(ZFYVE26):c.6921C>T (p.Ser2307=)	ZFYVE26	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1344209	NM_015346.4(ZFYVE26):c.6897G>A (p.Leu2299=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 704368	NM_015346.4(ZFYVE26):c.6876A>G (p.Leu2292=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 313877	NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 528015	NM_015346.4(ZFYVE26):c.6789C>T (p.Asp2263=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 241055	NM_015346.4(ZFYVE26):c.6588+7C>T	ZFYVE26	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 15 +4 more	GBenign/Likely benign
Select item 313880	NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 557294	NM_015346.4(ZFYVE26):c.6253_6255del (p.Lys2085del)	ZFYVE26 (K2085del)	Deletion (inframe_deletion)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 241054	NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg)	ZFYVE26 (G2077R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 15 +3 more	GBenign/Likely benign
Select item 1303993	NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile)	ZFYVE26 (V2052I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 215890	NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)	ZFYVE26 (I2029T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1344208	NM_015346.4(ZFYVE26):c.6033G>A (p.Val2011=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344206	NM_015346.4(ZFYVE26):c.5981G>A (p.Gly1994Asp)	ZFYVE26 (G1994D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 660743	NM_015346.4(ZFYVE26):c.5927C>T (p.Thr1976Met)	ZFYVE26 (T1976M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 15 +4 more	GUncertain significance
Select item 1163951	NM_015346.4(ZFYVE26):c.5834G>A (p.Arg1945Gln)	ZFYVE26 (R1945Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GUncertain significance
Select item 695230	NM_015346.4(ZFYVE26):c.5799C>T (p.Ser1933=)	ZFYVE26	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 573887	NM_015346.4(ZFYVE26):c.5791-3C>T	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 555081	NM_015346.4(ZFYVE26):c.5791-6G>A	ZFYVE26	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 241053	NM_015346.4(ZFYVE26):c.5784T>C (p.Tyr1928=)	ZFYVE26	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1344205	NM_015346.4(ZFYVE26):c.5771G>A (p.Ser1924Asn)	ZFYVE26 (S1924N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 579343	NM_015346.4(ZFYVE26):c.5768G>A (p.Arg1923Gln)	ZFYVE26 (R1923Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 188139	NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile)	ZFYVE26 (S1893I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 130783	NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)	ZFYVE26 (N1891S)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign
Select item 219560	NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr)	ZFYVE26 (C1871Y)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign
Select item 1344204	NM_015346.4(ZFYVE26):c.5434G>A (p.Asp1812Asn)	ZFYVE26 (D1812N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344203	NM_015346.4(ZFYVE26):c.5320G>A (p.Gly1774Ser)	ZFYVE26 (G1774S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 219623	NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)	ZFYVE26 (A1754T)	Single nucleotide variant (missense variant)	Spastic paraplegia +5 more	GUncertain significance
Select item 289453	NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)	ZFYVE26	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1344202	NM_015346.4(ZFYVE26):c.5073G>A (p.Val1691=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344201	NM_015346.4(ZFYVE26):c.4975-5A>G	ZFYVE26	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 499727	NM_015346.4(ZFYVE26):c.4955C>T (p.Ala1652Val)	ZFYVE26 (A1652V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 392256	NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 215519	NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1344200	NM_015346.4(ZFYVE26):c.4694A>G (p.Glu1565Gly)	ZFYVE26 (E1565G)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 1344199	NM_015346.4(ZFYVE26):c.4663C>T (p.Leu1555=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 595101	NM_015346.4(ZFYVE26):c.4455del (p.Trp1485fs)	ZFYVE26 (W1485fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 649757	NM_015346.4(ZFYVE26):c.4452G>C (p.Arg1484Ser)	ZFYVE26 (R1484S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 15 +4 more	GUncertain significance
Select item 130782	NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)	ZFYVE26 (C1457Y)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign
Select item 215889	NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn)	ZFYVE26 (D1442N)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 313897	NM_015346.4(ZFYVE26):c.4293G>C (p.Gln1431His)	ZFYVE26 (Q1431H)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 289455	NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met)	ZFYVE26 (V1422M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 1344197	NM_015346.4(ZFYVE26):c.4203C>T (p.Leu1401=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 212640	NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 209210	NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter)	ZFYVE26 (W1394*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia +3 more	GPathogenic
Select item 527985	NM_015346.4(ZFYVE26):c.4114_4115insGAAGGGC (p.Ala1372fs)	ZFYVE26 (A1372fs)	Insertion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 1344196	NM_015346.4(ZFYVE26):c.4073G>A (p.Arg1358His)	ZFYVE26 (R1358H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 313900	NM_015346.4(ZFYVE26):c.4066T>G (p.Cys1356Gly)	ZFYVE26 (C1356G)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 313901	NM_015346.4(ZFYVE26):c.4035G>T (p.Val1345=)	ZFYVE26	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1163953	NM_015346.4(ZFYVE26):c.4027A>G (p.Arg1343Gly)	ZFYVE26 (R1343G)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 1344195	NM_015346.4(ZFYVE26):c.4024C>G (p.Arg1342Gly)	ZFYVE26 (R1342G)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 313905	NM_015346.4(ZFYVE26):c.3757C>T (p.Leu1253=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign
Select item 288592	NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)	ZFYVE26 (R1241Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 1344194	NM_015346.4(ZFYVE26):c.3652A>C (p.Asn1218His)	ZFYVE26 (N1218H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 989053	NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs)	ZFYVE26 (A1215fs)	Insertion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 989052	NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)	ZFYVE26 (Q1128*)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 130781	NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val)	ZFYVE26 (A1122V)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign
Select item 130780	NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu)	ZFYVE26 (P1103L)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign
Select item 1344193	NM_015346.4(ZFYVE26):c.3259C>G (p.Leu1087Val)	ZFYVE26 (L1087V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 406182	NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del)	ZFYVE26	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 385570	NM_015346.4(ZFYVE26):c.3210C>T (p.Pro1070=)	ZFYVE26	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 130779	NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign
Select item 1344191	NM_015346.4(ZFYVE26):c.3129A>C (p.Gln1043His)	ZFYVE26 (Q1043H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 130778	NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr)	ZFYVE26 (S1040T)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign
Select item 448889	NM_015346.4(ZFYVE26):c.3051T>C (p.Ala1017=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 15 +4 more	GConflicting classifications of pathogenicity
Select item 703018	NM_015346.4(ZFYVE26):c.3036C>T (p.His1012=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 188323	NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)	ZFYVE26 (V963L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 313908	NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met)	ZFYVE26 (T951M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 220334	NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile)	ZFYVE26 (M942I)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 1344189	NM_015346.4(ZFYVE26):c.2756-6G>A	ZFYVE26	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 699051	NM_015346.4(ZFYVE26):c.2756-7C>T	ZFYVE26	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344188	NM_015346.4(ZFYVE26):c.2609_2633del (p.Met870fs)	ZFYVE26 (M870fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia	GPathogenic
Select item 130777	NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign
Select item 1082091	NM_015346.4(ZFYVE26):c.2553+8G>A	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344187	NM_015346.4(ZFYVE26):c.2426G>A (p.Gly809Asp)	ZFYVE26 (G809D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 313914	NM_015346.4(ZFYVE26):c.2332+7del	ZFYVE26	Deletion (intron variant)	Spastic paraplegia +5 more	GBenign/Likely benign
Select item 1344185	NM_015346.4(ZFYVE26):c.2174G>T (p.Arg725Leu)	ZFYVE26 (R725L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 313915	NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His)	ZFYVE26 (R702H)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 702464	NM_015346.4(ZFYVE26):c.2097C>A (p.Ile699=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344184	NM_015346.4(ZFYVE26):c.1944T>C (p.His648=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 385569	NM_015346.4(ZFYVE26):c.1933A>G (p.Met645Val)	ZFYVE26 (M645V)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 699330	NM_015346.4(ZFYVE26):c.1870G>A (p.Ala624Thr)	ZFYVE26 (A624T)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 219559	NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe)	ZFYVE26 (S615F)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 1344183	NM_015346.4(ZFYVE26):c.1659A>C (p.Ser553=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 697054	NM_015346.4(ZFYVE26):c.1597G>A (p.Ala533Thr)	ZFYVE26 (A533T)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 700737	NM_015346.4(ZFYVE26):c.1435+8G>A	ZFYVE26	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1344181	NM_015346.4(ZFYVE26):c.1399C>G (p.Gln467Glu)	ZFYVE26 (Q467E)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 888509	NM_015346.4(ZFYVE26):c.1387C>T (p.Leu463Phe)	ZFYVE26 (L463F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 968608	NM_015346.4(ZFYVE26):c.1378G>A (p.Glu460Lys)	ZFYVE26 (E460K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 130776	NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign
Select item 188381	NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val)	ZFYVE26 (G395V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 1344180	NM_015346.4(ZFYVE26):c.1141G>C (p.Glu381Gln)	ZFYVE26 (E381Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance

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