"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PEX14"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 500767	NM_004565.3(PEX14):c.18G>C (p.Gln6His)	PEX14 (Q6H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 259434	NM_004565.3(PEX14):c.156C>T (p.Phe52=)	PEX14	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1515799	NM_004565.3(PEX14):c.190G>A (p.Asp64Asn)	PEX14 (D64N)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 259435	NM_004565.3(PEX14):c.213C>G (p.Gly71=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 13A (Zellweger) +3 more	GBenign/Likely benign
Select item 95145	NM_004565.3(PEX14):c.384+14A>T	PEX14	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 95146	NM_004565.3(PEX14):c.474C>A (p.Ser158Arg)	PEX14 (S158R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 291678	NM_004565.3(PEX14):c.513C>A (p.Ala171=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 559024	NM_004565.3(PEX14):c.517G>T (p.Val173Phe)	LOC126805616, PEX14 (V173F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 935142	NM_004565.3(PEX14):c.577G>A (p.Ala193Thr)	LOC126805616, PEX14 (A193T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 800261	NM_004565.3(PEX14):c.766G>A (p.Val256Met)	PEX14 (V256M)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 13A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 259437	NM_004565.3(PEX14):c.768G>A (p.Val256=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 13A (Zellweger) +3 more	GBenign/Likely benign
Select item 167453	NM_004565.3(PEX14):c.1014C>T (p.Asp338=)	PEX14	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 167454	NM_004565.3(PEX14):c.1032G>T (p.Gly344=)	PEX14	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign