Related gene-specific medical variations for Gene (Select 118813) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438651	NM_001385875.1(ZFYVE27):c.310G>A (p.Ala104Thr)	ZFYVE27 (A104T +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 33	GUncertain significance
Select item 2438650	NM_001385875.1(ZFYVE27):c.815C>T (p.Pro272Leu)	ZFYVE27 (P154L +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 33	GUncertain significance
Select item 1319382	NM_001385875.1(ZFYVE27):c.897+18T>G	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 930241	NM_001385875.1(ZFYVE27):c.916C>T (p.Pro306Ser)	ZFYVE27 (P306S +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 33	GUncertain significance
Select item 446047	NM_001385875.1(ZFYVE27):c.263_266del (p.Asn88fs)	ZFYVE27 (N88fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
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
Select item 301845	NM_001385875.1(ZFYVE27):c.*223G>C	LOC130004486, ZFYVE27	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 33	GUncertain significance

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