"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 360304	NM_014855.3(AP5Z1):c.-3G>A	AP5Z1, LOC129997861	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign/Likely benign
Select item 585436	NM_014855.3(AP5Z1):c.-1G>C	AP5Z1, LOC129997861	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 1344207	NM_014855.3(AP5Z1):c.107A>G (p.Asp36Gly)	AP5Z1 (D36G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344211	NM_014855.3(AP5Z1):c.117G>A (p.Pro39=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344219	NM_014855.3(AP5Z1):c.171C>T (p.Tyr57=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 911864	NM_014855.3(AP5Z1):c.238G>A (p.Glu80Lys)	AP5Z1 (E80K)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344230	NM_014855.3(AP5Z1):c.271C>T (p.Arg91Ter)	AP5Z1 (R91*)	Single nucleotide variant (nonsense +2 more)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 128413	NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys)	AP5Z1 (S94C)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 1344231	NM_014855.3(AP5Z1):c.295del (p.Leu99fs)	AP5Z1 (L99fs)	Deletion (frameshift variant +2 more)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 1344232	NM_014855.3(AP5Z1):c.299G>A (p.Ser100Asn)	AP5Z1 (S100N)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 240942	NM_014855.3(AP5Z1):c.329G>A (p.Arg110Gln)	AP5Z1 (R110Q)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 128414	NM_014855.3(AP5Z1):c.333G>C (p.Gln111His)	AP5Z1 (Q111H)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +3 more	GBenign/Likely benign
Select item 1344233	NM_014855.3(AP5Z1):c.343G>C (p.Val115Leu)	AP5Z1 (V115L)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 360308	NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys)	AP5Z1 (E127K)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +3 more	GBenign/Likely benign
Select item 695649	NM_014855.3(AP5Z1):c.428G>A (p.Arg143Gln)	AP5Z1 (R143Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +2 more	GBenign/Likely benign
Select item 240943	NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)	AP5Z1 (V161M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1344234	NM_014855.3(AP5Z1):c.529A>G (p.Ser177Gly)	AP5Z1 (S177G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344235	NM_014855.3(AP5Z1):c.536G>A (p.Arg179Gln)	AP5Z1 (R179Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 695581	NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 665091	NM_014855.3(AP5Z1):c.617G>A (p.Arg206Gln)	AP5Z1 (R206Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +3 more	GUncertain significance
Select item 944670	NM_014855.3(AP5Z1):c.624G>A (p.Pro208=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 910691	NM_014855.3(AP5Z1):c.628C>T (p.Pro210Ser)	AP5Z1 (P54S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 698580	NM_014855.3(AP5Z1):c.636C>T (p.Thr212=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 1344236	NM_014855.3(AP5Z1):c.699A>G (p.Thr233=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GConflicting classifications of pathogenicity
Select item 128415	NM_014855.3(AP5Z1):c.759C>T (p.Ser253=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign
Select item 360318	NM_014855.3(AP5Z1):c.780C>A (p.Thr260=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 446852	NM_014855.3(AP5Z1):c.791-5C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 240944	NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 566755	NM_014855.3(AP5Z1):c.868del (p.Arg290fs)	AP5Z1 (R134fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 580702	NM_014855.3(AP5Z1):c.874C>T (p.Arg292Trp)	AP5Z1 (R292W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 360320	NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)	AP5Z1 (R294Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 695551	NM_014855.3(AP5Z1):c.891C>T (p.Ala297=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 698575	NM_014855.3(AP5Z1):c.894C>T (p.Phe298=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +3 more	GConflicting classifications of pathogenicity
Select item 1344237	NM_014855.3(AP5Z1):c.948G>C (p.Gly316=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GConflicting classifications of pathogenicity
Select item 695478	NM_014855.3(AP5Z1):c.970-5C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 1344238	NM_014855.3(AP5Z1):c.973C>A (p.Leu325Met)	AP5Z1 (L169M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344239	NM_014855.3(AP5Z1):c.978G>A (p.Val326=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 538864	NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1344190	NM_014855.3(AP5Z1):c.1000G>A (p.Val334Met)	AP5Z1 (V178M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344192	NM_014855.3(AP5Z1):c.1032C>T (p.Tyr344=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 948785	NM_014855.3(AP5Z1):c.1033C>T (p.Arg345Ter)	AP5Z1 (R189* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia +2 more	GPathogenic
Select item 1344198	NM_014855.3(AP5Z1):c.1043C>T (p.Ser348Phe)	AP5Z1 (S192F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 417162	NM_014855.3(AP5Z1):c.1062C>T (p.His354=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 446845	NM_014855.3(AP5Z1):c.1073_1099del (p.Arg358_Val366del)	AP5Z1	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 48 +2 more	GUncertain significance
Select item 128408	NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln)	AP5Z1 (L375Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign
Select item 128409	NM_014855.3(AP5Z1):c.1131C>T (p.His377=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign
Select item 652848	NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg)	AP5Z1 (G222R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 696635	NM_014855.3(AP5Z1):c.1155G>A (p.Ser385=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 128410	NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +3 more	GBenign/Likely benign
Select item 240933	NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg)	AP5Z1 (G423R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1344212	NM_014855.3(AP5Z1):c.1315C>G (p.Leu439Val)	AP5Z1 (L283V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 375313	NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter)	AP5Z1 (W441* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 48 +2 more	GPathogenic
Select item 360327	NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GConflicting classifications of pathogenicity
Select item 994974	NM_014855.3(AP5Z1):c.1360C>T (p.Leu454Phe)	AP5Z1 (L298F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344213	NM_014855.3(AP5Z1):c.1493C>T (p.Thr498Ile)	AP5Z1 (T342I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 412230	NM_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp)	AP5Z1 (R510W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 240935	NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln)	AP5Z1 (R510Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1344214	NM_014855.3(AP5Z1):c.1543C>T (p.Gln515Ter)	AP5Z1 (Q359* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 240936	NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +3 more	GBenign
Select item 360332	NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 417161	NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 1044302	NM_014855.3(AP5Z1):c.1567C>T (p.Arg523Cys)	AP5Z1, MIR4656 (R367C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 412233	NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)	AP5Z1 (K525Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +3 more	GConflicting classifications of pathogenicity
Select item 240937	NM_014855.3(AP5Z1):c.1585G>A (p.Ala529Thr)	AP5Z1 (A529T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1344216	NM_014855.3(AP5Z1):c.1642C>T (p.Arg548Cys)	AP5Z1 (R392C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344217	NM_014855.3(AP5Z1):c.1665C>T (p.Ala555=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344218	NM_014855.3(AP5Z1):c.1674G>T (p.Thr558=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 360335	NM_014855.3(AP5Z1):c.1708-5C>T	AP5Z1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1344220	NM_014855.3(AP5Z1):c.1740G>T (p.Ala580=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 909908	NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 538861	NM_014855.3(AP5Z1):c.1766C>T (p.Ser589Leu)	AP5Z1 (S589L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 478581	NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 910808	NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GConflicting classifications of pathogenicity
Select item 963587	NM_014855.3(AP5Z1):c.1795G>A (p.Gly599Ser)	AP5Z1 (G599S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GUncertain significance
Select item 962072	NM_014855.3(AP5Z1):c.1873G>A (p.Asp625Asn)	AP5Z1 (D469N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 1344221	NM_014855.3(AP5Z1):c.1906C>G (p.Leu636Val)	AP5Z1 (L480V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GUncertain significance
Select item 360340	NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)	AP5Z1 (V646M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 360342	NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 360343	NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu)	AP5Z1 (S655L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 947862	NM_014855.3(AP5Z1):c.1970C>T (p.Thr657Ile)	AP5Z1 (T657I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 1344222	NM_014855.3(AP5Z1):c.1989C>T (p.Thr663=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344223	NM_014855.3(AP5Z1):c.2001CAA[1] (p.Asn668del)	AP5Z1 (N512del +1 more)	Microsatellite (inframe_deletion +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 424693	NM_014855.3(AP5Z1):c.2014G>A (p.Glu672Lys)	AP5Z1 (E672K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 424688	NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys)	AP5Z1 (R685C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 128411	NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met)	AP5Z1 (V700M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +3 more	GBenign/Likely benign
Select item 641106	NM_014855.3(AP5Z1):c.2105_2116dup (p.Met702_Leu705dup)	AP5Z1	Duplication (inframe_insertion +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 478623	NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly)	AP5Z1 (R711G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GUncertain significance
Select item 1344224	NM_014855.3(AP5Z1):c.2201C>T (p.Ala734Val)	AP5Z1 (A578V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 417164	NM_014855.3(AP5Z1):c.2209_2220del (p.Ser737_Ser740del)	AP5Z1	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign
Select item 417166	NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr)	AP5Z1 (A744T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 702937	NM_014855.3(AP5Z1):c.2232G>A (p.Ala744=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344225	NM_014855.3(AP5Z1):c.2249G>A (p.Arg750Gln)	AP5Z1 (R594Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344226	NM_014855.3(AP5Z1):c.2289G>C (p.Val763=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GConflicting classifications of pathogenicity
Select item 1344228	NM_014855.3(AP5Z1):c.2291C>T (p.Ala764Val)	AP5Z1 (A608V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1080493	NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His)	AP5Z1 (R636H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 1344229	NM_014855.3(AP5Z1):c.2379G>C (p.Thr793=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 128412	NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 412234	NM_014855.3(AP5Z1):c.2387G>A (p.Arg796Gln)	AP5Z1 (R796Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +4 more	GUncertain significance
Select item 240941	NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1344164	NM_014855.3(AP5Z1):c.*10G>A	AP5Z1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia	GUncertain significance

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