C3553936[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1725230	NM_000287.4(PEX6):c.2563del (p.Asp855fs)	PEX6 (D767fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1723985	NM_000287.4(PEX6):c.2462del (p.Val821fs)	PEX6 (V733fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1724588	NM_000287.4(PEX6):c.2361del (p.Val788fs)	PEX6 (V700fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1724922	NM_000287.4(PEX6):c.2313_2315delinsTGCCCCTCCCT (p.Glu772fs)	PEX6 (E684fs +1 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725756	NM_000287.4(PEX6):c.2289del (p.Thr764fs)	PEX6 (T676fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1726525	NM_000287.4(PEX6):c.2265_2266insCTCCCCAGCCT (p.Ala756fs)	PEX6 (A668fs +1 more)	Insertion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725064	NM_000287.4(PEX6):c.2227del (p.His743fs)	PEX6 (H655fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725421	NM_000287.4(PEX6):c.2165_2166del (p.Gln722fs)	PEX6 (Q634fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725784	NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)	PEX6 (E631fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1726221	NM_000287.4(PEX6):c.2020_2022delinsGTCTCTTATACACATCTGT (p.Leu674fs)	PEX6 (L586fs +1 more)	Indel (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1724845	NM_000287.4(PEX6):c.1963_1965delinsCT (p.Ala656fs)	PEX6 (A568fs +1 more)	Indel (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725211	NM_000287.4(PEX6):c.1640_1641del (p.Val547fs)	PEX6 (V459fs +1 more)	Microsatellite (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1726080	NM_000287.4(PEX6):c.1402_1403del (p.Leu468fs)	PEX6 (L380fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725571	NM_000287.4(PEX6):c.1315del (p.Glu439fs)	PEX6 (E351fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725182	NM_000287.4(PEX6):c.1127_1128del (p.Pro376fs)	PEX6 (P288fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1726126	NM_000287.4(PEX6):c.1119del (p.Lys374fs)	PEX6 (K286fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1724632	NM_000287.4(PEX6):c.1094del (p.Val365fs)	PEX6 (V277fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +1 more	GLikely pathogenic
Select item 1725046	NM_000287.4(PEX6):c.954del (p.Arg319fs)	PEX6 (R231fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725636	NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)	PEX6 (L209* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1726393	NM_000287.4(PEX6):c.872_873del (p.Leu291fs)	PEX6 (L291fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic

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Items: 20