ClinVar for Gene (Select 150962) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247397	NC_000002.11:g.(?_61244895)_(61275905_?)del	PUS10, PEX13	Deletion	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 3149841	NM_144709.4(PUS10):c.947C>T (p.Ser316Phe)	PUS10 (S93F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149840	NM_144709.4(PUS10):c.875G>A (p.Gly292Glu)	PUS10 (G292E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149839	NM_144709.4(PUS10):c.53C>T (p.Thr18Ile)	PUS10 (T18I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149838	NM_144709.4(PUS10):c.50A>G (p.Asn17Ser)	PUS10 (N17S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3149837	NM_144709.4(PUS10):c.475G>A (p.Ala159Thr)	PUS10 (A159T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149836	NM_144709.4(PUS10):c.39G>C (p.Gln13His)	PUS10 (Q13H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149835	NM_144709.4(PUS10):c.284A>G (p.His95Arg)	PUS10 (H95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149834	NM_144709.4(PUS10):c.1442A>G (p.Gln481Arg)	PUS10 (Q481R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149832	NM_144709.4(PUS10):c.1072A>G (p.Ile358Val)	PUS10 (I135V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062588	GRCh37/hg19 2p16.1-15(chr2:61215496-62175386)x3	C2orf74, CCT4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3012369	NM_002618.4(PEX13):c.69A>C (p.Gly23=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2879038	NM_002618.4(PEX13):c.27C>G (p.Pro9=)	PUS10, PEX13	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2864417	NM_002618.4(PEX13):c.42C>A (p.Thr14=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2825032	NM_002618.4(PEX13):c.18A>T (p.Pro6=)	PEX13, PUS10	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2818111	NM_002618.4(PEX13):c.6G>C (p.Ala2=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2814698	NM_002618.4(PEX13):c.27C>T (p.Pro9=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2805185	NM_002618.4(PEX13):c.20dup (p.Pro8fs)	PEX13, PUS10 (P8fs)	Duplication (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 2765621	NM_002618.4(PEX13):c.69A>T (p.Gly23=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2754296	NM_002618.4(PEX13):c.27del (p.Lys10fs)	PEX13, PUS10 (K10fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 2749264	NM_002618.4(PEX13):c.92+1G>A	PEX13, PUS10	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely pathogenic
Select item 2730752	NM_144709.4(PUS10):c.-16+139G>T	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2619689	NM_144709.4(PUS10):c.1514T>C (p.Met505Thr)	PUS10 (M505T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538268	NM_144709.4(PUS10):c.449C>A (p.Pro150Gln)	PUS10 (P150Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493424	NM_144709.4(PUS10):c.1099C>T (p.His367Tyr)	PUS10 (H144Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472127	NM_144709.4(PUS10):c.1401G>C (p.Gln467His)	PUS10 (Q244H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2428463	NM_144709.4(PUS10):c.-16+150C>A	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2424572	NC_000002.11:g.(?_61108976)_(61275905_?)dup	PEX13, PUS10 +1 more	Duplication	not provided	GUncertain significance
Select item 2424571	NC_000002.11:g.(?_61108976)_(61275905_?)del	PUS10, REL +1 more	Deletion	not provided	GPathogenic
Select item 2411687	NM_144709.4(PUS10):c.809A>G (p.Asn270Ser)	PUS10 (N270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371153	NM_144709.4(PUS10):c.306G>T (p.Lys102Asn)	PUS10 (K102N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368445	NM_144709.4(PUS10):c.1561G>T (p.Val521Phe)	PUS10 (V298F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362632	NM_144709.4(PUS10):c.296C>G (p.Thr99Ser)	PUS10 (T99S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357182	NM_144709.4(PUS10):c.605T>C (p.Ile202Thr)	PUS10 (I202T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353561	NM_144709.4(PUS10):c.82T>A (p.Phe28Ile)	PUS10 (F28I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332197	NM_144709.4(PUS10):c.446C>T (p.Pro149Leu)	PUS10 (P149L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318739	NM_144709.4(PUS10):c.62G>A (p.Cys21Tyr)	PUS10 (C21Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299786	NM_144709.4(PUS10):c.1058G>A (p.Gly353Glu)	PUS10 (G130E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270173	NM_144709.4(PUS10):c.832G>A (p.Val278Ile)	PUS10 (V55I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223811	NM_144709.4(PUS10):c.1168C>T (p.Arg390Cys)	PUS10 (R167C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217965	NM_144709.4(PUS10):c.802C>T (p.Pro268Ser)	PUS10 (P45S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215152	NM_144709.4(PUS10):c.200C>T (p.Pro67Leu)	PUS10 (P67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208036	NM_144709.4(PUS10):c.826T>C (p.Cys276Arg)	PUS10 (C53R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204049	NM_144709.4(PUS10):c.1370G>A (p.Arg457Gln)	PUS10 (R234Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2179497	NM_002618.4(PEX13):c.85A>G (p.Thr29Ala)	PUS10, PEX13 (T29A)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2144227	NM_002618.4(PEX13):c.26C>A (p.Pro9His)	PEX13, PUS10 (P9H)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2114346	NM_002618.4(PEX13):c.12G>A (p.Gln4=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2112998	NM_002618.4(PEX13):c.6G>T (p.Ala2=)	PEX13, PUS10	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2106532	NM_144709.4(PUS10):c.-16+141A>C	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2103387	NM_002618.4(PEX13):c.67G>C (p.Gly23Arg)	PEX13, PUS10 (G23R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2082913	NM_002618.4(PEX13):c.70C>T (p.Pro24Ser)	PEX13, PUS10 (P24S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2030017	NM_002618.4(PEX13):c.84C>T (p.Pro28=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2018962	NM_002618.4(PEX13):c.60C>T (p.Ala20=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1977614	NM_144709.4(PUS10):c.-16+142G>A	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1952502	NM_002618.4(PEX13):c.29A>T (p.Lys10Ile)	PEX13, PUS10 (K10I)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1929426	NM_002618.4(PEX13):c.23C>T (p.Pro8Leu)	PEX13, PUS10 (P8L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1908974	NM_002618.4(PEX13):c.68G>A (p.Gly23Glu)	PEX13, PUS10 (G23E)	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1808860	GRCh37/hg19 2p16.1(chr2:61039123-61178193)x1	PUS10, REL	Copy number loss	not provided	GUncertain significance
Select item 1808715	GRCh37/hg19 2p16.1-15(chr2:60680467-61527143)x3	BCL11A, C2orf74 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808522	GRCh37/hg19 2p16.1-15(chr2:61238958-61414470)x3	C2orf74, PEX13 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807687	GRCh37/hg19 2p16.1-15(chr2:61215497-61714418)x1	C2orf74, PEX13 +4 more	Copy number loss	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1623775	NM_002618.4(PEX13):c.33C>G (p.Pro11=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1576266	NM_144709.4(PUS10):c.-16+137C>G	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1572021	NM_002618.4(PEX13):c.9C>G (p.Ser3=)	PEX13, PUS10	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1560629	NM_002618.4(PEX13):c.54G>T (p.Pro18=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1554786	NM_144709.4(PUS10):c.-16+147C>T	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1535933	NM_002618.4(PEX13):c.45C>T (p.Arg15=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1512021	NM_144709.4(PUS10):c.-16+151A>G	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1504503	NM_002618.4(PEX13):c.44G>A (p.Arg15His)	PEX13, PUS10 (R15H)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1499072	NM_002618.4(PEX13):c.11A>C (p.Gln4Pro)	PEX13, PUS10 (Q4P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1469235	NM_002618.4(PEX13):c.59C>G (p.Ala20Gly)	PEX13, PUS10 (A20G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1450896	NM_002618.4(PEX13):c.66G>A (p.Pro22=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1445805	NM_002618.4(PEX13):c.32C>G (p.Pro11Arg)	PEX13, PUS10 (P11R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1422133	NM_002618.4(PEX13):c.29A>G (p.Lys10Arg)	PEX13, PUS10 (K10R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1412893	NM_002618.4(PEX13):c.8C>G (p.Ser3Cys)	PUS10, PEX13 (S3C)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1400057	NC_000002.11:g.(?_61244895)_(61275905_?)dup	PEX13, PUS10	Duplication	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1372243	NM_002618.4(PEX13):c.46C>T (p.Arg16Ter)	PEX13, PUS10 (R16*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 1369983	NM_002618.4(PEX13):c.62G>A (p.Gly21Glu)	PEX13, PUS10 (G21E)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1368963	NM_002618.4(PEX13):c.31C>G (p.Pro11Ala)	PEX13, PUS10 (P11A)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1360335	NM_002618.4(PEX13):c.1A>G (p.Met1Val)	PEX13, PUS10 (M1V)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1356404	NM_002618.4(PEX13):c.86C>A (p.Thr29Asn)	PEX13, PUS10 (T29N)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1353244	NM_002618.4(PEX13):c.64C>T (p.Pro22Ser)	PEX13, PUS10 (P22S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1347391	NM_002618.4(PEX13):c.53C>T (p.Pro18Leu)	PEX13, PUS10 (P18L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1289711	NM_144709.4(PUS10):c.-16+480T>G	PEX13, PUS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261906	NM_144709.4(PUS10):c.-71T>C	PEX13, PUS10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1254325	NM_144709.4(PUS10):c.-16+57G>C	PEX13, PUS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1144509	NM_002618.4(PEX13):c.45C>G (p.Arg15=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1040499	NM_002618.4(PEX13):c.86C>G (p.Thr29Ser)	PEX13, PUS10 (T29S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 960337	NM_002618.4(PEX13):c.43C>T (p.Arg15Cys)	PEX13, PUS10 (R15C)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 862694	NM_002618.4(PEX13):c.14C>T (p.Pro5Leu)	PEX13, PUS10 (P5L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GUncertain significance
Select item 625544	GRCh37/hg19 2p16.1-15(chr2:57445335-62733206)	B3GNT2, BCL11A +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 596659	NM_002618.4(PEX13):c.9C>T (p.Ser3=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 595682	NM_002618.4(PEX13):c.54G>A (p.Pro18=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 595019	NM_002618.4(PEX13):c.18A>G (p.Pro6=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 594837	NM_144709.4(PUS10):c.-16+255C>T	PEX13, PUS10	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 593168	NM_002618.4(PEX13):c.32C>A (p.Pro11His)	PEX13, PUS10 (P11H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 591426	NM_002618.4(PEX13):c.58_69dup (p.Ala20_Gly23dup)	PEX13, PUS10	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 562631	GRCh37/hg19 2p16.1-15(chr2:60573620-61767847)x3	BCL11A, C2orf74 +7 more	Copy number gain	not provided	GUncertain significance

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