PEX14[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 148364	GRCh38/hg38 1p36.22(chr1:10245412-10637093)x1	CENPS, CENPS-CORT +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 153433	GRCh38/hg38 1p36.22(chr1:10317912-11018880)x4	C1orf127, CASZ1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 1249898	NC_000001.11:g.10474698C>A	PEX14	Single nucleotide variant	not provided	GBenign
Select item 1226501	NC_000001.11:g.10474780C>G	PEX14	Single nucleotide variant	not provided	GBenign
Select item 3049425	NM_004565.3(PEX14):c.-10C>T	PEX14	Single nucleotide variant (5 prime UTR variant)	PEX14-related disorder	GLikely benign
Select item 3029435	NM_004565.3(PEX14):c.-9C>T	PEX14	Single nucleotide variant (5 prime UTR variant)	PEX14-related disorder	GLikely benign
Select item 501839	NM_004565.3(PEX14):c.-7C>T	PEX14	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1356517	NM_004565.3(PEX14):c.4_5delinsTT (p.Ala2Leu)	PEX14 (A2L)	Indel (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1082887	NM_004565.3(PEX14):c.9C>T (p.Ser3=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1469584	NM_004565.3(PEX14):c.12G>A (p.Ser4=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1042634	NM_004565.3(PEX14):c.14A>G (p.Glu5Gly)	PEX14 (E5G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2836685	NM_004565.3(PEX14):c.15G>A (p.Glu5=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2413404	NM_004565.3(PEX14):c.16C>G (p.Gln6Glu)	PEX14 (Q6E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 500767	NM_004565.3(PEX14):c.18G>C (p.Gln6His)	PEX14 (Q6H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2092714	NM_004565.3(PEX14):c.19G>A (p.Ala7Thr)	PEX14 (A7T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1507242	NM_004565.3(PEX14):c.20C>T (p.Ala7Val)	PEX14 (A7V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 95142	NM_004565.3(PEX14):c.21A>C (p.Ala7=)	PEX14	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1477064	NM_004565.3(PEX14):c.22G>C (p.Glu8Gln)	PEX14 (E8Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1473432	NM_004565.3(PEX14):c.26A>G (p.Gln9Arg)	PEX14 (Q9R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 874497	NM_004565.3(PEX14):c.26A>T (p.Gln9Leu)	PEX14 (Q9L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GConflicting classifications of pathogenicity
Select item 1407491	NM_004565.3(PEX14):c.28C>T (p.Pro10Ser)	PEX14 (P10S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 593805	NM_004565.3(PEX14):c.29C>G (p.Pro10Arg)	PEX14 (P10R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1111382	NM_004565.3(PEX14):c.30G>C (p.Pro10=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1468486	NM_004565.3(PEX14):c.31A>T (p.Ser11Cys)	PEX14 (S11C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	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 1350486	NM_004565.3(PEX14):c.32G>A (p.Ser11Asn)	PEX14 (S11N)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1558244	NM_004565.3(PEX14):c.33C>T (p.Ser11=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 862190	NM_004565.3(PEX14):c.36+1G>T	PEX14	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder, complementation group K	GLikely pathogenic
Select item 1481633	NM_004565.3(PEX14):c.36+3A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1414870	NM_004565.3(PEX14):c.36+5G>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 595941	NM_004565.3(PEX14):c.36+6G>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
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 2782062	NM_004565.3(PEX14):c.36+9A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 788283	NM_004565.3(PEX14):c.36+10G>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 3001707	NM_004565.3(PEX14):c.36+14G>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2420835	NM_004565.3(PEX14):c.36+15A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1640261	NM_004565.3(PEX14):c.36+16C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2200335	NM_004565.3(PEX14):c.36+18G>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2070217	NM_004565.3(PEX14):c.36+18del	PEX14	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1582515	NM_004565.3(PEX14):c.36+20C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1230681	NM_004565.3(PEX14):c.37-74C>T	PEX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2121497	NM_004565.3(PEX14):c.37-20del	PEX14	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1598249	NM_004565.3(PEX14):c.37-18T>C	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2117173	NM_004565.3(PEX14):c.37-16C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2010059	NM_004565.3(PEX14):c.37-15C>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1639627	NM_004565.3(PEX14):c.37-14A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2821741	NM_004565.3(PEX14):c.37-9T>C	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1345448	NM_004565.3(PEX14):c.41G>A (p.Ser14Asn)	PEX14 (S14N)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1375724	NM_004565.3(PEX14):c.44C>G (p.Ser15Cys)	PEX14 (S15C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1547217	NM_004565.3(PEX14):c.48T>G (p.Thr16=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 594747	NM_004565.3(PEX14):c.48T>C (p.Thr16=)	PEX14	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2968168	NM_004565.3(PEX14):c.63T>C (p.Asn21=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2145616	NM_004565.3(PEX14):c.70C>T (p.Pro24Ser)	PEX14 (P24S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2115895	NM_004565.3(PEX14):c.74G>A (p.Arg25Gln)	PEX14 (R25Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1696253	NM_004565.3(PEX14):c.76G>A (p.Glu26Lys)	PEX14 (E26K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 1057693	NM_004565.3(PEX14):c.77A>G (p.Glu26Gly)	PEX14 (E26G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 291671	NM_004565.3(PEX14):c.78G>A (p.Glu26=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +2 more	GBenign/Likely benign
Select item 1469461	NM_004565.3(PEX14):c.80C>T (p.Pro27Leu)	PEX14 (P27L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2998899	NM_004565.3(PEX14):c.81G>T (p.Pro27=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1668374	NM_004565.3(PEX14):c.81G>A (p.Pro27=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GLikely benign
Select item 1406743	NM_004565.3(PEX14):c.84G>A (p.Leu28=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2817075	NM_004565.3(PEX14):c.84+9C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1979047	NM_004565.3(PEX14):c.84+11A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1605263	NM_004565.3(PEX14):c.84+12A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1570510	NM_004565.3(PEX14):c.84+17T>C	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GBenign
Select item 1536608	NM_004565.3(PEX14):c.84+20G>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1167532	NM_004565.3(PEX14):c.84+8231A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GBenign
Select item 225769	NM_004565.3(PEX14):c.84+10837A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GBenign
Select item 1186448	NM_004565.3(PEX14):c.85-288A>G	PEX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295395	NM_004565.3(PEX14):c.85-248C>T	PEX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2031663	NM_004565.3(PEX14):c.85-11T>A	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1556127	NM_004565.3(PEX14):c.85-8C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1922638	NM_004565.3(PEX14):c.85-6C>T	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 290947	NM_004565.3(PEX14):c.85-6C>G	PEX14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2135498	NM_004565.3(PEX14):c.85-5A>G	PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2814902	NM_004565.3(PEX14):c.87T>C (p.Ile29=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
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 499591	NM_004565.3(PEX14):c.93G>A (p.Thr31=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GConflicting classifications of pathogenicity
Select item 1605678	NM_004565.3(PEX14):c.99G>C (p.Val33=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1460557	NM_004565.3(PEX14):c.101A>G (p.Lys34Arg)	PEX14 (K34R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1567240	NM_004565.3(PEX14):c.108A>G (p.Leu36=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2753909	NM_004565.3(PEX14):c.109C>T (p.Gln37Ter)	PEX14 (Q37*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder, complementation group K	GPathogenic
Select item 1467307	NM_004565.3(PEX14):c.112A>G (p.Asn38Asp)	PEX14 (N38D)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
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

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