"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "AP5Z1"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1428396	NM_014855.3(AP5Z1):c.8C>T (p.Ser3Leu)	AP5Z1, LOC129997861 (S3L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 3379735	NM_014855.3(AP5Z1):c.131C>G (p.Ser44Cys)	AP5Z1 (S44C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1450688	NM_014855.3(AP5Z1):c.164C>T (p.Thr55Met)	AP5Z1 (T55M)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 360309	NM_014855.3(AP5Z1):c.394G>A (p.Val132Met)	AP5Z1 (V132M)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
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 910692	NM_014855.3(AP5Z1):c.631G>A (p.Val211Ile)	AP5Z1 (V55I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 538860	NM_014855.3(AP5Z1):c.671C>T (p.Thr224Met)	AP5Z1 (T224M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 538859	NM_014855.3(AP5Z1):c.691C>T (p.Arg231Cys)	AP5Z1 (R231C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 424671	NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro)	AP5Z1 (T280P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GUncertain significance
Select item 3379736	NM_014855.3(AP5Z1):c.850G>T (p.Gly284Cys)	AP5Z1 (G128C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1163465	NM_014855.3(AP5Z1):c.854G>A (p.Arg285His)	AP5Z1 (R129H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
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 3363896	NM_014855.3(AP5Z1):c.878T>A (p.Leu293His)	AP5Z1 (L137H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 639973	NM_014855.3(AP5Z1):c.1010G>A (p.Arg337Gln)	AP5Z1 (R181Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 1693947	NM_014855.3(AP5Z1):c.1018C>T (p.Pro340Ser)	AP5Z1 (P184S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 638840	NM_014855.3(AP5Z1):c.1072C>T (p.Arg358Cys)	AP5Z1 (R358C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
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 1163466	NM_014855.3(AP5Z1):c.1135G>A (p.Glu379Lys)	AP5Z1 (E223K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GUncertain significance
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 666057	NM_014855.3(AP5Z1):c.1288T>G (p.Leu430Val)	AP5Z1 (L430V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
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 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 3379737	NM_014855.3(AP5Z1):c.1565T>A (p.Leu522Gln)	AP5Z1 (L366Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1693948	NM_014855.3(AP5Z1):c.1638T>G (p.Cys546Trp)	AP5Z1 (C390W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379738	NM_014855.3(AP5Z1):c.1876CTG[1] (p.Leu627del)	AP5Z1 (L471del +1 more)	Microsatellite (non-coding transcript variant)	not provided	GUncertain significance
Select item 1163467	NM_014855.3(AP5Z1):c.1907T>C (p.Leu636Pro)	AP5Z1 (L480P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1055241	NM_014855.3(AP5Z1):c.1916G>C (p.Arg639Thr)	AP5Z1 (R483T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GUncertain significance
Select item 360339	NM_014855.3(AP5Z1):c.1919C>T (p.Ala640Val)	AP5Z1 (A640V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 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 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 641748	NM_014855.3(AP5Z1):c.2045C>T (p.Thr682Ile)	AP5Z1 (T526I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 240938	NM_014855.3(AP5Z1):c.2060C>G (p.Ser687Cys)	AP5Z1 (S687C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3379739	NM_014855.3(AP5Z1):c.2098_2109dup (p.Thr703_Thr704insValLeuMetThr)	AP5Z1	Duplication (non-coding transcript variant)	not provided	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 412232	NM_014855.3(AP5Z1):c.2287G>A (p.Val763Met)	AP5Z1 (V763M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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

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Items: 37