ClinVar for MedGen (Select 766916) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3009312	NM_002857.4(PEX19):c.180+15C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 3009085	NM_002857.4(PEX19):c.772-12C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 3007362	NM_002857.4(PEX19):c.633T>C (p.Pro211=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 3003535	NM_002857.4(PEX19):c.772-4C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2993224	NM_002857.4(PEX19):c.387A>G (p.Leu129=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2990784	NM_002857.4(PEX19):c.381T>G (p.Ser127=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2989152	NM_002857.4(PEX19):c.150C>T (p.Pro50=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2981123	NM_002857.4(PEX19):c.186C>A (p.Ala62=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2858439	NM_002857.4(PEX19):c.577A>T (p.Lys193Ter)	PEX19 (K193*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GPathogenic
Select item 2850007	NM_002857.4(PEX19):c.817-6C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2849881	NM_002857.4(PEX19):c.816+20C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2845720	NM_002857.4(PEX19):c.713C>A (p.Thr238Lys)	PEX19 (T238K)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2842183	NM_002857.4(PEX19):c.86del (p.Phe29fs)	PEX19 (F29fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GPathogenic
Select item 2832179	NM_002857.4(PEX19):c.280T>C (p.Leu94=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2823305	NM_002857.4(PEX19):c.181-6C>G	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2822036	NM_002857.4(PEX19):c.843T>C (p.Asp281=)	PEX19	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2821166	NM_002857.4(PEX19):c.27T>C (p.Ser9=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2821109	NM_002857.4(PEX19):c.825C>T (p.Gly275=)	PEX19	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2819604	NM_002857.4(PEX19):c.477G>A (p.Gly159=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2814929	NM_002857.4(PEX19):c.144G>C (p.Ser48=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2806573	NM_002857.4(PEX19):c.594+1G>C	PEX19	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely pathogenic
Select item 2798859	NM_002857.4(PEX19):c.817-18C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2789608	NM_002857.4(PEX19):c.181-9C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2776191	NM_002857.4(PEX19):c.433-15_433-12del	PEX19	Deletion (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2772250	NM_002857.4(PEX19):c.654T>C (p.Tyr218=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2769052	NM_002857.4(PEX19):c.235C>T (p.Leu79=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2767389	NM_002857.4(PEX19):c.433-9C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2766379	NM_002857.4(PEX19):c.354T>C (p.Asp118=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2717414	NM_002857.4(PEX19):c.740G>A (p.Arg247His)	PEX19 (R247H)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2706603	NM_002857.4(PEX19):c.595-20C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2434655	NM_002857.4(PEX19):c.419C>T (p.Ala140Val)	PEX19 (A140V)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2434654	NM_002857.4(PEX19):c.212T>G (p.Phe71Cys)	PEX19 (F71C)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2432567	NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)	PEX19 (L94*)	Single nucleotide variant (nonsense +1 more)	Zellweger spectrum disorders +1 more	GLikely pathogenic
Select item 2414394	NM_002857.4(PEX19):c.46A>T (p.Arg16Trp)	PEX19 (R16W)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2192781	NM_002857.4(PEX19):c.513C>T (p.Ile171=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2177777	NM_002857.4(PEX19):c.878G>A (p.Gly293Asp)	PEX19 (G293D +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2171775	NM_002857.4(PEX19):c.432+3G>A	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2166426	NM_002857.4(PEX19):c.237G>T (p.Leu79=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2164694	NM_002857.4(PEX19):c.484A>G (p.Met162Val)	PEX19 (M162V)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2163357	NM_002857.4(PEX19):c.239C>T (p.Ala80Val)	PEX19 (A80V)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2161614	NM_002857.4(PEX19):c.13G>A (p.Glu5Lys)	PEX19 (E5K)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 2145637	NM_002857.4(PEX19):c.475G>A (p.Gly159Arg)	PEX19 (G159R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2139964	NM_002857.4(PEX19):c.485T>C (p.Met162Thr)	PEX19 (M162T)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2139216	NM_002857.4(PEX19):c.199C>G (p.Gln67Glu)	PEX19 (Q67E)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2130770	NM_002857.4(PEX19):c.68A>C (p.Glu23Ala)	PEX19 (E23A)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2129756	NM_002857.4(PEX19):c.859G>T (p.Gly287Cys)	PEX19 (G287C)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2128956	NM_002857.4(PEX19):c.574C>G (p.Leu192Val)	PEX19 (L192V)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2126753	NM_002857.4(PEX19):c.744T>A (p.Phe248Leu)	PEX19 (F248L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2126108	NM_002857.4(PEX19):c.600A>G (p.Pro200=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2124735	NM_002857.4(PEX19):c.384C>G (p.Cys128Trp)	PEX19 (C128W)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2123930	NM_002857.4(PEX19):c.30C>A (p.Val10=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2122971	NM_002857.4(PEX19):c.70+2T>G	PEX19	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely pathogenic
Select item 2119875	NM_002857.4(PEX19):c.759T>A (p.Asp253Glu)	PEX19 (D253E)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2116269	NM_002857.4(PEX19):c.438C>T (p.Ser146=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GLikely benign
Select item 2114955	NM_002857.4(PEX19):c.6C>T (p.Ala2=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2112498	NM_002857.4(PEX19):c.854T>C (p.Leu285Pro)	PEX19 (L285P)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2111884	NM_002857.4(PEX19):c.69A>T (p.Glu23Asp)	PEX19 (E23D)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2109507	NM_002857.4(PEX19):c.661C>G (p.Gln221Glu)	PEX19 (Q221E)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2108022	NM_002857.4(PEX19):c.474G>C (p.Glu158Asp)	PEX19 (E158D)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2105953	NM_002857.4(PEX19):c.530G>A (p.Ser177Asn)	PEX19 (S177N)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2103736	NM_002857.4(PEX19):c.708C>T (p.Thr236=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2103069	NM_002857.4(PEX19):c.346+9A>G	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2093256	NM_002857.4(PEX19):c.94G>T (p.Ala32Ser)	PEX19 (A32S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2089618	NM_002857.4(PEX19):c.181-12C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2088255	NM_002857.4(PEX19):c.526C>T (p.Gln176Ter)	PEX19 (Q176*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GPathogenic
Select item 2088131	NM_002857.4(PEX19):c.71-15C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2085424	NM_002857.4(PEX19):c.118T>G (p.Ser40Ala)	PEX19 (S40A)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2075792	NM_002857.4(PEX19):c.679A>G (p.Lys227Glu)	PEX19 (K227E)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2074707	NM_002857.4(PEX19):c.446C>T (p.Ser149Leu)	PEX19 (S149L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 2068477	NM_002857.4(PEX19):c.305T>C (p.Val102Ala)	PEX19 (V102A)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2057388	NM_002857.4(PEX19):c.869G>C (p.Gly290Ala)	PEX19 (G290A +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2053889	NM_002857.4(PEX19):c.395C>G (p.Thr132Arg)	PEX19 (T132R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2051151	NM_002857.4(PEX19):c.397C>G (p.Leu133Val)	PEX19 (L133V)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2049399	NM_002857.4(PEX19):c.499G>A (p.Gly167Arg)	PEX19 (G167R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2048155	NM_002857.4(PEX19):c.594+15A>G	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2047930	NM_002857.4(PEX19):c.172A>G (p.Thr58Ala)	PEX19 (T58A)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2047787	NM_002857.4(PEX19):c.784G>A (p.Gly262Ser)	PEX19 (G262S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2043730	NM_002857.4(PEX19):c.18A>T (p.Glu6Asp)	PEX19 (E6D)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2031977	NM_002857.4(PEX19):c.347-5C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2027205	NM_002857.4(PEX19):c.447G>C (p.Ser149=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2027132	NM_002857.4(PEX19):c.147G>T (p.Gly49=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2015467	NM_002857.4(PEX19):c.180+13C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2011999	NM_002857.4(PEX19):c.360C>T (p.Thr120=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2011554	NM_002857.4(PEX19):c.9del (p.Ala4fs)	PEX19 (A4fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GPathogenic
Select item 2010342	NM_002857.4(PEX19):c.98A>G (p.Lys33Arg)	PEX19 (K33R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2006145	NM_002857.4(PEX19):c.524T>C (p.Met175Thr)	PEX19 (M175T)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2004061	NM_002857.4(PEX19):c.211T>C (p.Phe71Leu)	PEX19 (F71L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2002669	NM_002857.4(PEX19):c.483C>T (p.Gly161=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2001124	NM_002857.4(PEX19):c.575T>C (p.Leu192Pro)	PEX19 (L192P)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2000227	NM_002857.4(PEX19):c.94G>C (p.Ala32Pro)	PEX19 (A32P)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1989741	NM_002857.4(PEX19):c.751G>A (p.Val251Met)	PEX19 (V251M)	Single nucleotide variant (non-coding transcript variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1989527	NM_002857.4(PEX19):c.225C>G (p.Phe75Leu)	PEX19 (F75L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1986579	NM_002857.4(PEX19):c.754C>A (p.Leu252Met)	PEX19 (L252M)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1986572	NM_002857.4(PEX19):c.543C>T (p.Asn181=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1979205	NM_002857.4(PEX19):c.573A>C (p.Ser191=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1975948	NM_002857.4(PEX19):c.779A>G (p.Asp260Gly)	PEX19 (D260G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1969962	NM_002857.4(PEX19):c.128C>T (p.Thr43Met)	PEX19 (T43M)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1934368	NM_002857.4(PEX19):c.180+16C>G	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1929891	NM_002857.4(PEX19):c.692A>G (p.Gln231Arg)	PEX19 (Q231R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1927537	NM_002857.4(PEX19):c.627T>C (p.Ser209=)	PEX19	Single nucleotide variant (non-coding transcript variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign

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