"Genome-Nilou Lab"[submitter] AND "ZFYVE26"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 386393	NM_015346.4(ZFYVE26):c.7371+18C>T	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia +3 more	GBenign/Likely benign
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 516681	NM_015346.4(ZFYVE26):c.7129-19_7129-17dup	ZFYVE26	Duplication (intron variant)	not provided +2 more	GBenign
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 241057	NM_015346.4(ZFYVE26):c.6921C>T (p.Ser2307=)	ZFYVE26	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
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 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 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 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 130783	NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)	ZFYVE26 (N1891S)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign
Select item 1301241	NM_015346.4(ZFYVE26):c.5653+16G>A	ZFYVE26	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 1243254	NM_015346.4(ZFYVE26):c.4373-35G>A	ZFYVE26	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 313905	NM_015346.4(ZFYVE26):c.3757C>T (p.Leu1253=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign
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 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 130778	NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr)	ZFYVE26 (S1040T)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign
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 313909	NM_015346.4(ZFYVE26):c.2692A>T (p.Thr898Ser)	ZFYVE26 (T898S)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GBenign
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 313910	NM_015346.4(ZFYVE26):c.2481C>A (p.Pro827=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 313914	NM_015346.4(ZFYVE26):c.2332+7del	ZFYVE26	Deletion (intron variant)	Spastic paraplegia +5 more	GBenign/Likely benign
Select item 695138	NM_015346.4(ZFYVE26):c.2112T>C (p.Pro704=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 15 +2 more	GBenign
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 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 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 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 130776	NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign
Select item 1234983	NM_015346.4(ZFYVE26):c.887-38T>C	ZFYVE26	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 15 +1 more	GBenign
Select item 696056	NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys)	ZFYVE26 (E250K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 313925	NM_015346.4(ZFYVE26):c.453C>T (p.Ser151=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 15 +3 more	GBenign
Select item 313930	NM_015346.4(ZFYVE26):c.273+13A>G	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign/Likely benign

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Items: 40