"Illumina Laboratory Services, Illumina"[submitter] AND "PEX14"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 874497	NM_004565.3(PEX14):c.26A>T (p.Gln9Leu)	PEX14 (Q9L)	Single nucleotide variant (missense variant)	PEX14-related condition +2 more	GConflicting classifications of pathogenicity
Select item 259436	NM_004565.3(PEX14):c.36+8G>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 13A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 291671	NM_004565.3(PEX14):c.78G>A (p.Glu26=)	PEX14	Single nucleotide variant (synonymous variant)	PEX14-related condition +2 more	GBenign/Likely benign
Select item 874498	NM_004565.3(PEX14):c.118C>T (p.Arg40Trp)	PEX14 (R40W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 259434	NM_004565.3(PEX14):c.156C>T (p.Phe52=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 13A (Zellweger) +3 more	GBenign
Select item 874499	NM_004565.3(PEX14):c.170-13C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 13A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 291672	NM_004565.3(PEX14):c.208T>G (p.Ser70Ala)	PEX14 (S70A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 13A (Zellweger) +1 more	GBenign/Likely benign
Select item 259435	NM_004565.3(PEX14):c.213C>G (p.Gly71=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 13A (Zellweger) +2 more	GBenign/Likely benign
Select item 875427	NM_004565.3(PEX14):c.233C>T (p.Ser78Leu)	PEX14 (S78L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 291673	NM_004565.3(PEX14):c.274C>G (p.Pro92Ala)	PEX14 (P92A)	Single nucleotide variant (missense variant)	PEX14-related condition +3 more	GUncertain significance
Select item 291674	NM_004565.3(PEX14):c.297C>T (p.Tyr99=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +2 more	GConflicting classifications of pathogenicity
Select item 197764	NM_004565.3(PEX14):c.349G>T (p.Ala117Ser)	PEX14 (A117S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +2 more	GBenign/Likely benign
Select item 95144	NM_004565.3(PEX14):c.360A>G (p.Ala120=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +2 more	GConflicting classifications of pathogenicity
Select item 291675	NM_004565.3(PEX14):c.381C>T (p.Tyr127=)	PEX14	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95145	NM_004565.3(PEX14):c.384+14A>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K +3 more	GBenign
Select item 291676	NM_004565.3(PEX14):c.400C>G (p.Leu134Val)	PEX14 (L134V)	Single nucleotide variant (missense variant)	PEX14-related condition +2 more	GBenign/Likely benign
Select item 95146	NM_004565.3(PEX14):c.474C>A (p.Ser158Arg)	PEX14 (S158R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 13A (Zellweger) +3 more	GUncertain significance
Select item 291677	NM_004565.3(PEX14):c.475G>A (p.Val159Met)	PEX14 (V159M)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 13A (Zellweger) +2 more	GBenign
Select item 876453	NM_004565.3(PEX14):c.488-14C>T	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GConflicting classifications of pathogenicity
Select item 791694	NM_004565.3(PEX14):c.504G>A (p.Thr168=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GBenign
Select item 291678	NM_004565.3(PEX14):c.513C>A (p.Ala171=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 13A (Zellweger) +1 more	GBenign
Select item 598254	NM_004565.3(PEX14):c.516C>T (p.Ser172=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 13A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 876454	NM_004565.3(PEX14):c.626T>C (p.Ile209Thr)	PEX14 (I209T)	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, complementation group K +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 286053	NM_004565.3(PEX14):c.795A>G (p.Ser265=)	PEX14	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 286703	NM_004565.3(PEX14):c.825G>A (p.Ser275=)	PEX14	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 291679	NM_004565.3(PEX14):c.855C>G (p.Gly285=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GConflicting classifications of pathogenicity
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 755301	NM_004565.3(PEX14):c.861G>T (p.Thr287=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GConflicting classifications of pathogenicity
Select item 291680	NM_004565.3(PEX14):c.883C>T (p.Pro295Ser)	PEX14 (P295S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 873557	NM_004565.3(PEX14):c.888G>T (p.Gln296His)	PEX14 (Q296H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 13A (Zellweger)	GUncertain significance
Select item 874556	NM_004565.3(PEX14):c.911A>T (p.Asp304Val)	PEX14 (D304V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 13A (Zellweger) +1 more	GUncertain significance
Select item 874557	NM_004565.3(PEX14):c.912C>T (p.Asp304=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GConflicting classifications of pathogenicity
Select item 291681	NM_004565.3(PEX14):c.925G>T (p.Val309Leu)	PEX14 (V309L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 259439	NM_004565.3(PEX14):c.959G>A (p.Arg320Lys)	PEX14 (R320K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 13A (Zellweger) +3 more	GBenign/Likely benign
Select item 291682	NM_004565.3(PEX14):c.993T>G (p.Asp331Glu)	PEX14 (D331E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 13A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 167453	NM_004565.3(PEX14):c.1014C>T (p.Asp338=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +3 more	GBenign
Select item 167454	NM_004565.3(PEX14):c.1032G>T (p.Gly344=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +3 more	GBenign
Select item 874558	NM_004565.3(PEX14):c.1128G>C (p.Arg376=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GConflicting classifications of pathogenicity
Select item 501866	NM_004565.3(PEX14):c.*7G>T	PEX14	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 291683	NM_004565.3(PEX14):c.*174C>T	PEX14	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 875480	NM_004565.3(PEX14):c.*256A>G	PEX14	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 13A (Zellweger)	GUncertain significance
Select item 875481	NM_004565.3(PEX14):c.*369A>G	PEX14	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 13A (Zellweger)	GUncertain significance
Select item 291684	NM_004565.3(PEX14):c.*400G>T	PEX14	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 13A (Zellweger)	GUncertain significance
Select item 875482	NM_004565.3(PEX14):c.*459T>C	PEX14	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 13A (Zellweger)	GUncertain significance
Select item 291685	NM_004565.3(PEX14):c.*515C>T	PEX14	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 13A (Zellweger)	GUncertain significance
Select item 291686	NM_004565.3(PEX14):c.*564C>T	PEX14	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 13A (Zellweger)	GUncertain significance
Select item 875483	NM_004565.3(PEX14):c.*570C>T	PEX14	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 13A (Zellweger)	GUncertain significance
Select item 291687	NM_004565.3(PEX14):c.*576A>G	PEX14	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 13A (Zellweger)	GUncertain significance
Select item 876501	NM_004565.3(PEX14):c.*616C>T	PEX14	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 13A (Zellweger)	GUncertain significance
Select item 876502	NM_004565.3(PEX14):c.*685A>T	PEX14	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 13A (Zellweger)	GUncertain significance
Select item 291688	NM_004565.3(PEX14):c.*755del	PEX14	Deletion (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance

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Items: 53