"Ambry Genetics"[submitter] AND "PEX14"[gene] - ClinVar

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Items: 24

	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 1055842	NM_004565.3(PEX14):c.31A>G (p.Ser11Gly)	PEX14 (S11G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 1018525	NM_004565.3(PEX14):c.92C>T (p.Thr31Met)	PEX14 (T31M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2251285	NM_004565.3(PEX14):c.205C>A (p.Gln69Lys)	PEX14 (Q69K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511479	NM_004565.3(PEX14):c.209C>T (p.Ser70Leu)	PEX14 (S70L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 291673	NM_004565.3(PEX14):c.274C>G (p.Pro92Ala)	PEX14 (P92A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +3 more	GUncertain significance
Select item 1351238	NM_004565.3(PEX14):c.328G>A (p.Gly110Ser)	PEX14 (G110S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 1347638	NM_004565.3(PEX14):c.413G>A (p.Gly138Asp)	PEX14 (G138D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 861009	NM_004565.3(PEX14):c.425G>A (p.Arg142Lys)	PEX14 (R142K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 3211503	NM_004565.3(PEX14):c.449C>T (p.Ala150Val)	PEX14 (A150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 285505	NM_004565.3(PEX14):c.451G>A (p.Gly151Ser)	PEX14 (G151S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 198515	NM_004565.3(PEX14):c.575C>G (p.Ala192Gly)	LOC126805616, PEX14 (A192G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2410330	NM_004565.3(PEX14):c.743C>T (p.Pro248Leu)	PEX14 (P248L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1490147	NM_004565.3(PEX14):c.743C>A (p.Pro248Gln)	PEX14 (P248Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 839147	NM_004565.3(PEX14):c.860C>T (p.Thr287Met)	PEX14 (T287M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2597415	NM_004565.3(PEX14):c.904G>A (p.Val302Met)	PEX14 (V302M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 874556	NM_004565.3(PEX14):c.911A>T (p.Asp304Val)	PEX14 (D304V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 646727	NM_004565.3(PEX14):c.990G>T (p.Glu330Asp)	PEX14 (E330D)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 2534431	NM_004565.3(PEX14):c.996T>G (p.Asp332Glu)	PEX14 (D332E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534429	NM_004565.3(PEX14):c.1007A>G (p.His336Arg)	PEX14 (H336R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1978238	NM_004565.3(PEX14):c.1033G>A (p.Val345Met)	PEX14 (V345M)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 1488796	NM_004565.3(PEX14):c.1081G>A (p.Val361Met)	PEX14 (V361M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2491482	NM_004565.3(PEX14):c.1118A>C (p.Glu373Ala)	PEX14 (E373A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1416241	NM_004565.3(PEX14):c.1126C>T (p.Arg376Trp)	PEX14 (R376W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance

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Items: 24