C1849128[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552082	NM_015346.4(ZFYVE26):c.7504C>T (p.Gln2502Ter)	ZFYVE26 (Q2502*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 554352	NM_015346.4(ZFYVE26):c.7434_7435del (p.Ile2478fs)	ZFYVE26 (I2478fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 557215	NM_015346.4(ZFYVE26):c.7416+2T>C	ZFYVE26	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 553490	NM_015346.4(ZFYVE26):c.7390C>T (p.Gln2464Ter)	ZFYVE26 (Q2464*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 557250	NM_015346.4(ZFYVE26):c.7371+1G>A	ZFYVE26	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 558090	NM_015346.4(ZFYVE26):c.7257del (p.Lys2418_Tyr2419insTer)	ZFYVE26	Deletion (nonsense)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 224987	NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter)	ZFYVE26 (Q2399*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 15 +2 more	GPathogenic/Likely pathogenic
Select item 553185	NM_015346.4(ZFYVE26):c.7188+1G>A	ZFYVE26	Single nucleotide variant (splice donor variant)	Spastic paraplegia +1 more	GLikely pathogenic
Select item 424005	NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)	ZFYVE26 (C2347*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552763	NM_015346.4(ZFYVE26):c.6987-1G>A	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia +1 more	GLikely pathogenic
Select item 241056	NM_015346.4(ZFYVE26):c.6738GAA[2] (p.Lys2248del)	ZFYVE26 (K2248del)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 15 +2 more	GConflicting classifications of pathogenicity
Select item 555270	NM_015346.4(ZFYVE26):c.6475TAC[1] (p.Tyr2160del)	ZFYVE26 (Y2160del)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 553310	NM_015346.4(ZFYVE26):c.6276_6278del (p.Pro2093del)	ZFYVE26 (P2093del)	Deletion (inframe_deletion)	Hereditary spastic paraplegia 15	GUncertain significance
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 552675	NM_015346.4(ZFYVE26):c.6006dup (p.Asp2003Ter)	ZFYVE26 (D2003*)	Duplication (nonsense)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 558013	NM_015346.4(ZFYVE26):c.5767_5790+3dup	ZFYVE26	Duplication (splice donor variant)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 555194	NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs)	ZFYVE26 (D1906fs)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 551562	NM_015346.4(ZFYVE26):c.5581_5583del (p.Ala1861del)	ZFYVE26 (A1861del)	Deletion (inframe_deletion)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 558095	NM_015346.4(ZFYVE26):c.5485-2A>G	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 553263	NM_015346.4(ZFYVE26):c.5484+1del	ZFYVE26	Deletion (splice donor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 551784	NM_015346.4(ZFYVE26):c.5484+1G>T	ZFYVE26	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 556932	NM_015346.4(ZFYVE26):c.5321-2A>G	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 555771	NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter)	ZFYVE26 (R1739*)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 558631	NM_015346.4(ZFYVE26):c.5125_5127del (p.Glu1709del)	ZFYVE26 (E1709del)	Deletion (inframe_deletion)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 550774	NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter)	ZFYVE26 (R1602*)	Single nucleotide variant (nonsense)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 553576	NM_015346.4(ZFYVE26):c.4798-1G>T	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 554649	NM_015346.4(ZFYVE26):c.4372+1_4372+3del	ZFYVE26	Microsatellite (splice donor variant)	Hereditary spastic paraplegia 15 +1 more	GConflicting classifications of pathogenicity
Select item 749	NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)	ZFYVE26 (R1438*)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 458283	NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter)	ZFYVE26 (R1378*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 15 +1 more	GPathogenic
Select item 553537	NM_015346.4(ZFYVE26):c.4089_4091del (p.Pro1364del)	ZFYVE26 (P1364del)	Deletion (inframe_deletion)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 555219	NM_015346.4(ZFYVE26):c.3626+1G>C	ZFYVE26	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 556631	NM_015346.4(ZFYVE26):c.3524-2A>G	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia +1 more	GLikely pathogenic
Select item 557618	NM_015346.4(ZFYVE26):c.3463TTC[1] (p.Phe1156del)	ZFYVE26 (F1156del)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 558018	NM_015346.4(ZFYVE26):c.3292_3294dup (p.Leu1098dup)	ZFYVE26	Duplication (inframe_insertion)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 555016	NM_015346.4(ZFYVE26):c.3282_3293del (p.Arg1095_Leu1098del)	ZFYVE26	Deletion (inframe_deletion)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 557650	NM_015346.4(ZFYVE26):c.3179_3180insTGA (p.Ser1060_Ile1061insAsp)	ZFYVE26	Insertion (inframe_insertion)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 552399	NM_015346.4(ZFYVE26):c.3139+2T>G	ZFYVE26	Single nucleotide variant (splice donor variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 550192	NM_015346.4(ZFYVE26):c.3139+1G>A	ZFYVE26	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 550561	NM_015346.4(ZFYVE26):c.3077TTC[1] (p.Leu1027del)	ZFYVE26 (L1027del)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 79594	NM_015346.4(ZFYVE26):c.3070C>T (p.Pro1024Ser)	ZFYVE26 (P1024S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 554552	NM_015346.4(ZFYVE26):c.3020-1G>A	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 555861	NM_015346.4(ZFYVE26):c.3020-2A>G	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia +1 more	GLikely pathogenic
Select item 79595	NM_015346.4(ZFYVE26):c.2716C>T (p.Arg906Cys)	ZFYVE26 (R906C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 15 +1 more	GUncertain significance
Select item 553921	NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer)	ZFYVE26	Deletion (frameshift variant)	Hereditary spastic paraplegia 15 +1 more	GPathogenic/Likely pathogenic
Select item 488743	NM_015346.4(ZFYVE26):c.2554-1G>C	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 15 +2 more	GPathogenic/Likely pathogenic
Select item 555535	NM_015346.4(ZFYVE26):c.2554-2A>G	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia +1 more	GLikely pathogenic
Select item 430412	NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs)	ZFYVE26 (L817fs)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic
Select item 550882	NM_015346.4(ZFYVE26):c.2401+1G>T	ZFYVE26	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 555834	NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter)	ZFYVE26 (R780*)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 555537	NM_015346.4(ZFYVE26):c.2333-1G>C	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 372839	NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter)	ZFYVE26 (Q752*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558093	NM_015346.4(ZFYVE26):c.2248+2T>C	ZFYVE26	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 553395	NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter)	ZFYVE26 (R728*)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 550021	NM_015346.4(ZFYVE26):c.1763_1765del (p.Asp588_Leu589delinsVal)	ZFYVE26	Deletion (inframe_indel)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 554340	NM_015346.4(ZFYVE26):c.1436-1G>A	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia +1 more	GLikely pathogenic
Select item 556655	NM_015346.4(ZFYVE26):c.1201CTC[1] (p.Leu402del)	ZFYVE26 (L402del)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 553398	NM_015346.4(ZFYVE26):c.1017+1G>T	ZFYVE26	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 15 +1 more	GLikely pathogenic
Select item 556397	NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter)	ZFYVE26 (R198*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 558670	NM_015346.4(ZFYVE26):c.363+2T>G	ZFYVE26	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 551491	NM_015346.4(ZFYVE26):c.363+1G>A	ZFYVE26	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 15 +2 more	GPathogenic/Likely pathogenic
Select item 558669	NM_015346.4(ZFYVE26):c.274-2A>G	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia +1 more	GLikely pathogenic
Select item 550098	NM_015346.4(ZFYVE26):c.273+8G>A	ZFYVE26	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 15	GUncertain significance

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Items: 62