"Genome-Nilou Lab"[submitter] AND "ZFYVE27"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 301827	NM_001385875.1(ZFYVE27):c.-1G>A	ZFYVE27	Single nucleotide variant (5 prime UTR variant +2 more)	Spastic paraplegia +2 more	GBenign
Select item 301828	NM_001385875.1(ZFYVE27):c.32C>T (p.Pro11Leu)	ZFYVE27 (P11L)	Single nucleotide variant (missense variant +3 more)	Spastic paraplegia +2 more	GBenign
Select item 220394	NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val)	ZFYVE27 (A21V)	Single nucleotide variant (missense variant +3 more)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 301829	NM_001385875.1(ZFYVE27):c.79C>G (p.Pro27Ala)	ZFYVE27 (P27A)	Single nucleotide variant (missense variant +3 more)	Spastic paraplegia +2 more	GBenign
Select item 238205	NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=)	ZFYVE27	Single nucleotide variant (synonymous variant +3 more)	Hereditary spastic paraplegia 33 +3 more	GBenign/Likely benign
Select item 130785	NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile)	ZFYVE27 (V82I +1 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia +2 more	GBenign
Select item 130786	NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia +3 more	GBenign
Select item 130787	NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val)	ZFYVE27 (G138V +6 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia +3 more	GBenign
Select item 301831	NM_001385875.1(ZFYVE27):c.424C>T (p.Arg142Cys)	ZFYVE27 (R142C +6 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 301832	NM_001385875.1(ZFYVE27):c.456-12C>T	ZFYVE27	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 33 +2 more	GBenign
Select item 301834	NM_001385875.1(ZFYVE27):c.516C>T (p.Arg172=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia +2 more	GBenign
Select item 301835	NM_001385875.1(ZFYVE27):c.522G>A (p.Leu174=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 1261579	NM_001385875.1(ZFYVE27):c.665-20G>T	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GBenign
Select item 301839	NM_001385875.1(ZFYVE27):c.1089+3G>A	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign
Select item 301841	NM_001385875.1(ZFYVE27):c.*40A>G	ZFYVE27	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 301846	NM_001385875.1(ZFYVE27):c.*248T>C	LOC130004486, ZFYVE27	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 33 +1 more	GBenign