"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ZFYVE26"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977810	NM_152443.3(RDH12):c.659-2A>T	GPHN, RDH12 +1 more	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 1475564	NM_152443.3(RDH12):c.757C>A (p.Pro253Thr)	GPHN, RDH12 +1 more (P253T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GUncertain significance
Select item 989725	NM_152443.3(RDH12):c.758C>G (p.Pro253Arg)	GPHN, RDH12 +1 more (P253R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GUncertain significance
Select item 2047	NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	GPHN, RDH12 +1 more (A269fs)	Deletion (frameshift variant)	RDH12-related disorder +4 more	GPathogenic
Select item 989726	NM_152443.3(RDH12):c.878G>C (p.Arg293Thr)	GPHN, RDH12 +1 more (R293T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1121704	NM_015346.4(ZFYVE26):c.7350G>A (p.Ala2450=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GLikely benign
Select item 488443	NM_015346.4(ZFYVE26):c.6419G>A (p.Arg2140Gln)	ZFYVE26 (R2140Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 15 +1 more	GUncertain significance
Select item 1071110	NM_015346.4(ZFYVE26):c.6144C>A (p.Tyr2048Ter)	ZFYVE26 (Y2048*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 15 +1 more	GPathogenic/Likely pathogenic
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 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 556932	NM_015346.4(ZFYVE26):c.5321-2A>G	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 219623	NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)	ZFYVE26 (A1754T)	Single nucleotide variant (missense variant)	Spastic paraplegia +5 more	GUncertain significance
Select item 1344200	NM_015346.4(ZFYVE26):c.4694A>G (p.Glu1565Gly)	ZFYVE26 (E1565G)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	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 749	NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)	ZFYVE26 (R1438*)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 550192	NM_015346.4(ZFYVE26):c.3139+1G>A	ZFYVE26	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 567466	NM_015346.4(ZFYVE26):c.2680G>A (p.Ala894Thr)	ZFYVE26 (A894T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 215891	NM_015346.4(ZFYVE26):c.991A>G (p.Asn331Asp)	ZFYVE26 (N331D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 15 +2 more	GLikely benign
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 550098	NM_015346.4(ZFYVE26):c.273+8G>A	ZFYVE26	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 406179	NM_015346.4(ZFYVE26):c.266G>A (p.Arg89Gln)	ZFYVE26 (R89Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance

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Items: 21