C3553937[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1079984	NM_000287.4(PEX6):c.2854C>T (p.Leu952=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Heimler syndrome 2 +3 more	GLikely benign
Select item 498696	NM_000287.4(PEX6):c.2783G>A (p.Arg928His)	PEX6 (R928H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 845895	NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)	PEX6 (A824V +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 551183	NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)	PEX6 (R876W +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 857250	NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr)	PEX6 (I845T +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +4 more	GUncertain significance
Select item 194165	NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)	PEX6 (R814* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2 +4 more	GPathogenic
Select item 1519294	NM_000287.4(PEX6):c.2080G>A (p.Val694Ile)	PEX6 (V606I +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GUncertain significance
Select item 972112	NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)	PEX6 (E664D +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GConflicting classifications of pathogenicity
Select item 199006	NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu)	PEX6 (S653L +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +5 more	GUncertain significance
Select item 911291	NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)	PEX6 (R644Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +4 more	GUncertain significance
Select item 224323	NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)	PEX6 (T572I +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 92780	NM_000287.4(PEX6):c.1480-5C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +5 more	GBenign/Likely benign
Select item 992065	NM_000287.4(PEX6):c.1236G>A (p.Val412=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Heimler syndrome 2 +3 more	GUncertain significance
Select item 967518	NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr)	PEX6 (A311T +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +4 more	GUncertain significance
Select item 502562	NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln)	PEX6 (K384Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 445406	NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala)	PEX6 (T361A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 92791	NM_000287.4(PEX6):c.883-3T>C	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 4B +5 more	GBenign
Select item 288056	NM_000287.4(PEX6):c.719C>G (p.Ala240Gly)	PEX6 (A240G)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger) +4 more	GUncertain significance
Select item 289831	NM_000287.4(PEX6):c.617G>A (p.Gly206Glu)	PEX6 (G206E)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 550215	NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)	PEX6 (R163P)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 92783	NM_000287.4(PEX6):c.210G>A (p.Gly70=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +5 more	GBenign/Likely benign
Select item 356811	NM_000287.4(PEX6):c.-79C>T	PEX6	Single nucleotide variant	not provided +4 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22