List of variants in gene ZFYVE26 reported as pathogenic for central nervous system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)	rs118204049	0.00003
NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter)	rs558285072	0.00002
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)	rs988442865	0.00001
NM_015346.4(ZFYVE26):c.4114_4115insGAAGGGC (p.Ala1372fs)	rs950356390	0.00001
NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter)	rs370828455	0.00001
NM_015346.4(ZFYVE26):c.6296dup (p.Asn2100fs)	rs1555394376	0.00001
NM_015346.4(ZFYVE26):c.1254dup (p.Cys419fs)
NM_015346.4(ZFYVE26):c.1477C>T (p.Gln493Ter)	rs118204050
NM_015346.4(ZFYVE26):c.1564C>T (p.Gln522Ter)	rs2040089822
NM_015346.4(ZFYVE26):c.1971C>G (p.Tyr657Ter)	rs2040001177
NM_015346.4(ZFYVE26):c.2074del (p.Leu692fs)	rs2039997846
NM_015346.4(ZFYVE26):c.2114dup (p.Pro705_Glu706insTer)	rs1279863038
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter)	rs1057518016
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter)	rs941230062
NM_015346.4(ZFYVE26):c.2554-1G>C	rs760559263
NM_015346.4(ZFYVE26):c.2609_2633del (p.Met870fs)	rs2140234090
NM_015346.4(ZFYVE26):c.363+1G>A	rs935301743
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs)	rs773333879
NM_015346.4(ZFYVE26):c.3G>T (p.Met1Ile)	rs1392868365
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter)	rs774809466
NM_015346.4(ZFYVE26):c.4359T>A (p.Cys1453Ter)	rs1594912625
NM_015346.4(ZFYVE26):c.4455del (p.Trp1485fs)	rs1566881181
NM_015346.4(ZFYVE26):c.4633G>T (p.Glu1545Ter)	rs763869212
NM_015346.4(ZFYVE26):c.5036del (p.Leu1679fs)	rs753426920
NM_015346.4(ZFYVE26):c.517del (p.Glu173fs)
NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)	rs387907057
NM_015346.4(ZFYVE26):c.5428dup (p.Val1810fs)	rs2140207402
NM_015346.4(ZFYVE26):c.5485-1G>A	rs1594898627
NM_015346.4(ZFYVE26):c.6610del (p.Phe2203_Ile2204insTer)	rs2140185555
NM_015346.4(ZFYVE26):c.6702_6771del (p.Trp2234fs)	rs2140185342
NM_015346.4(ZFYVE26):c.7020_7027dup (p.Phe2343Ter)	rs2140183172
NM_015346.4(ZFYVE26):c.886+1G>C	rs752618765

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