"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ZFYVE26"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1944982	NM_015346.4(ZFYVE26):c.7565A>G (p.Gln2522Arg)	ZFYVE26 (Q2522R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 661071	NM_015346.4(ZFYVE26):c.7318G>A (p.Gly2440Arg)	ZFYVE26 (G2440R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163563	NM_015346.4(ZFYVE26):c.7128+5A>G	ZFYVE26	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1027979	NM_015346.4(ZFYVE26):c.6649C>G (p.Leu2217Val)	ZFYVE26 (L2217V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 15 +2 more	GUncertain significance
Select item 2683266	NM_015346.4(ZFYVE26):c.6463A>G (p.Met2155Val)	ZFYVE26 (M2155V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3380213	NM_015346.4(ZFYVE26):c.6020G>C (p.Ser2007Thr)	ZFYVE26 (S2007T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475655	NM_015346.4(ZFYVE26):c.5917G>A (p.Gly1973Arg)	ZFYVE26 (G1973R)	Single nucleotide variant (missense variant)	not provided +1 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 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 458288	NM_015346.4(ZFYVE26):c.5714C>G (p.Ala1905Gly)	ZFYVE26 (A1905G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 966025	NM_015346.4(ZFYVE26):c.5585G>A (p.Arg1862His)	ZFYVE26 (R1862H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 241050	NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr)	ZFYVE26 (A1801T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 15 +3 more	GUncertain significance
Select item 1163952	NM_015346.4(ZFYVE26):c.4674+5C>T	ZFYVE26	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 423921	NM_015346.4(ZFYVE26):c.4427G>A (p.Arg1476Gln)	ZFYVE26 (R1476Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2039494	NM_015346.4(ZFYVE26):c.4370G>C (p.Cys1457Ser)	ZFYVE26 (C1457S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
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 2086096	NM_015346.4(ZFYVE26):c.4114G>T (p.Ala1372Ser)	ZFYVE26 (A1372S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2074221	NM_015346.4(ZFYVE26):c.4061G>A (p.Arg1354Gln)	ZFYVE26 (R1354Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1723773	NM_015346.4(ZFYVE26):c.4048G>A (p.Glu1350Lys)	ZFYVE26 (E1350K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1163954	NM_015346.4(ZFYVE26):c.3985G>A (p.Val1329Ile)	ZFYVE26 (V1329I)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 448890	NM_015346.4(ZFYVE26):c.3950C>T (p.Thr1317Met)	ZFYVE26 (T1317M)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GUncertain significance
Select item 458282	NM_015346.4(ZFYVE26):c.3847A>G (p.Thr1283Ala)	ZFYVE26 (T1283A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2683267	NM_015346.4(ZFYVE26):c.3781G>A (p.Ala1261Thr)	ZFYVE26 (A1261T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049203	NM_015346.4(ZFYVE26):c.3681C>G (p.Ile1227Met)	ZFYVE26 (I1227M)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1163955	NM_015346.4(ZFYVE26):c.3680T>C (p.Ile1227Thr)	ZFYVE26 (I1227T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380214	NM_015346.4(ZFYVE26):c.3626G>A (p.Arg1209Lys)	ZFYVE26 (R1209K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420950	NM_015346.4(ZFYVE26):c.2386A>G (p.Ser796Gly)	ZFYVE26 (S796G)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1163956	NM_015346.4(ZFYVE26):c.2309G>A (p.Arg770His)	ZFYVE26 (R770H)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 640955	NM_015346.4(ZFYVE26):c.2174G>A (p.Arg725His)	ZFYVE26 (R725H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163957	NM_015346.4(ZFYVE26):c.2104C>T (p.Arg702Cys)	ZFYVE26 (R702C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163958	NM_015346.4(ZFYVE26):c.1936C>T (p.Pro646Ser)	ZFYVE26 (P646S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969765	NM_015346.4(ZFYVE26):c.1482C>A (p.Asn494Lys)	ZFYVE26 (N494K)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 986841	NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs)	ZFYVE26 (L448fs)	Microsatellite (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 3380215	NM_015346.4(ZFYVE26):c.1182+5C>T	ZFYVE26	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2683268	NM_015346.4(ZFYVE26):c.1130G>T (p.Cys377Phe)	ZFYVE26 (C377F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 313919	NM_015346.4(ZFYVE26):c.956C>T (p.Ala319Val)	ZFYVE26 (A319V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1693620	NM_015346.4(ZFYVE26):c.863C>T (p.Pro288Leu)	ZFYVE26 (P288L)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 313923	NM_015346.4(ZFYVE26):c.763C>T (p.Arg255Trp)	ZFYVE26 (R255W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 15 +3 more	GUncertain significance
Select item 458295	NM_015346.4(ZFYVE26):c.730C>A (p.Leu244Ile)	ZFYVE26 (L244I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448891	NM_015346.4(ZFYVE26):c.443G>A (p.Arg148His)	ZFYVE26 (R148H)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 528010	NM_015346.4(ZFYVE26):c.416A>G (p.Asn139Ser)	ZFYVE26 (N139S)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 313928	NM_015346.4(ZFYVE26):c.397G>A (p.Gly133Ser)	ZFYVE26 (G133S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 313929	NM_015346.4(ZFYVE26):c.361G>A (p.Glu121Lys)	ZFYVE26 (E121K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 452654	NM_015346.4(ZFYVE26):c.296G>A (p.Arg99Gln)	ZFYVE26 (R99Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163959	NM_015346.4(ZFYVE26):c.37C>G (p.Gln13Glu)	ZFYVE26 (Q13E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 49