COL25A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 2281376	NM_198721.4(COL25A1):c.1948G>C (p.Gly650Arg)	COL25A1 (G650R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 722320	NM_198721.4(COL25A1):c.1866G>A (p.Gly622=)	COL25A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2542413	NM_198721.4(COL25A1):c.1819G>T (p.Gly607Cys)	COL25A1 (G607C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381489	NM_198721.4(COL25A1):c.1807C>T (p.Arg603Trp)	COL25A1 (R603W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 452083	NM_198721.4(COL25A1):c.1797C>G (p.Phe599Leu)	COL25A1 (F599L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2487391	NM_198721.4(COL25A1):c.1742C>T (p.Pro581Leu)	COL25A1 (P581L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 452084	NM_198721.4(COL25A1):c.1709G>A (p.Arg570Lys)	COL25A1 (R570K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 738694	NM_198721.4(COL25A1):c.1698C>A (p.Pro566=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 761463	NM_198721.4(COL25A1):c.1662A>T (p.Thr554=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3035124	NM_198721.4(COL25A1):c.1657-3del	COL25A1	Deletion (intron variant)	COL25A1-related condition	GLikely benign
Select item 3147489	NM_198721.4(COL25A1):c.1645C>T (p.Pro549Ser)	COL25A1 (P522S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147488	NM_198721.4(COL25A1):c.1616C>T (p.Pro539Leu)	COL25A1 (P512L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2501778	NM_198721.4(COL25A1):c.1598del (p.Pro533fs)	COL25A1 (P506fs +1 more)	Deletion (frameshift variant +1 more)	Fibrosis of extraocular muscles, congenital, 5	GPathogenic
Select item 3065765	NM_198721.4(COL25A1):c.1585G>A (p.Gly529Ser)	COL25A1 (G502S +1 more)	Single nucleotide variant (missense variant +1 more)	Fibrosis of extraocular muscles, congenital, 5	GUncertain significance
Select item 2616569	NM_198721.4(COL25A1):c.1580T>C (p.Ile527Thr)	COL25A1 (I500T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 730739	NM_198721.4(COL25A1):c.1560G>A (p.Pro520=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2282900	NM_198721.4(COL25A1):c.1524T>A (p.Asn508Lys)	COL25A1 (N481K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363489	NM_198721.4(COL25A1):c.1517G>C (p.Gly506Ala)	COL25A1 (G506A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480438	NM_198721.4(COL25A1):c.1514C>T (p.Pro505Leu)	COL25A1 (P505L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 180691	NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter)	COL25A1 (G497* +1 more)	Single nucleotide variant (nonsense)	Fibrosis of extraocular muscles, congenital, 5	GPathogenic
Select item 749537	NM_198721.4(COL25A1):c.1359T>A (p.Pro453=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 767967	NM_198721.4(COL25A1):c.1345-10C>G	COL25A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3033235	NM_198721.4(COL25A1):c.1344+6T>G	COL25A1	Single nucleotide variant (intron variant)	COL25A1-related condition	GLikely benign
Select item 762135	NM_198721.4(COL25A1):c.1314C>T (p.Ala438=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2460944	NM_198721.4(COL25A1):c.1303C>A (p.Leu435Ile)	COL25A1 (L435I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 767968	NM_198721.4(COL25A1):c.1289A>G (p.Asp430Gly)	COL25A1 (D411G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3147487	NM_198721.4(COL25A1):c.1280A>G (p.Glu427Gly)	COL25A1 (E408G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251921	NM_198721.4(COL25A1):c.1216G>C (p.Gly406Arg)	COL25A1 (G387R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251920	NM_198721.4(COL25A1):c.1215A>C (p.Lys405Asn)	COL25A1 (K405N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 180690	NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg)	COL25A1 (G382R +1 more)	Single nucleotide variant (missense variant +1 more)	Fibrosis of extraocular muscles, congenital, 5	GPathogenic
Select item 2382753	NM_198721.4(COL25A1):c.1139C>T (p.Ala380Val)	COL25A1 (A376V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382907	NM_198721.4(COL25A1):c.1090C>T (p.Arg364Trp)	COL25A1 (R360W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147500	NM_198721.4(COL25A1):c.932G>C (p.Gly311Ala)	COL25A1 (G307A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2067909	NM_198721.4(COL25A1):c.920C>G (p.Ser307Ter)	COL25A1 (S307* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3057433	NM_198721.4(COL25A1):c.906+5A>T	COL25A1	Single nucleotide variant (intron variant)	COL25A1-related condition	GLikely benign
Select item 3053282	NM_198721.4(COL25A1):c.867C>T (p.Asp289=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	COL25A1-related condition	GLikely benign
Select item 3058559	NM_198721.4(COL25A1):c.862-9C>T	COL25A1	Single nucleotide variant (intron variant)	COL25A1-related condition	GLikely benign
Select item 3147499	NM_198721.4(COL25A1):c.787C>T (p.Pro263Ser)	COL25A1 (P263S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 751236	NM_198721.4(COL25A1):c.781-5T>C	COL25A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 791983	NM_198721.4(COL25A1):c.696A>C (p.Glu232Asp)	COL25A1 (E228D +1 more)	Single nucleotide variant (missense variant)	COL25A1-related condition +1 more	GBenign/Likely benign
Select item 1699063	NM_198721.4(COL25A1):c.672+1del	COL25A1	Deletion (splice donor variant)	Fibrosis of extraocular muscles, congenital, 5	GLikely pathogenic
Select item 1698993	NM_198721.4(COL25A1):c.672+1G>A	COL25A1	Single nucleotide variant (splice donor variant)	Fibrosis of extraocular muscles, congenital, 5	GLikely pathogenic
Select item 750612	NM_198721.4(COL25A1):c.672C>T (p.Pro224=)	COL25A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3147497	NM_198721.4(COL25A1):c.653G>A (p.Arg218His)	COL25A1 (R218H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054689	NM_198721.4(COL25A1):c.609A>G (p.Pro203=)	COL25A1	Single nucleotide variant (synonymous variant)	COL25A1-related condition	GLikely benign
Select item 788525	NM_198721.4(COL25A1):c.603C>A (p.Gly201=)	COL25A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3147496	NM_198721.4(COL25A1):c.570C>A (p.Asp190Glu)	COL25A1 (D186E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300376	NM_198721.4(COL25A1):c.557T>C (p.Leu186Pro)	COL25A1 (L186P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595158	NM_198721.4(COL25A1):c.550C>T (p.Arg184Cys)	COL25A1 (R184C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3060465	NM_198721.4(COL25A1):c.493-777G>A	COL25A1 (V183I)	Single nucleotide variant (missense variant +1 more)	COL25A1-related condition	GBenign
Select item 3147495	NM_198721.4(COL25A1):c.485G>A (p.Gly162Glu)	COL25A1 (G162E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403929	NM_198721.4(COL25A1):c.474A>C (p.Gln158His)	COL25A1 (Q158H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 714989	NM_198721.4(COL25A1):c.441C>A (p.Gly147=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2362278	NM_198721.4(COL25A1):c.434C>T (p.Pro145Leu)	COL25A1 (P145L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 754728	NM_198721.4(COL25A1):c.414T>A (p.Gly138=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717345	NM_198721.4(COL25A1):c.412+9C>T	COL25A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3147494	NM_198721.4(COL25A1):c.404G>A (p.Gly135Glu)	COL25A1 (G135E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 748634	NM_198721.4(COL25A1):c.390G>A (p.Lys130=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	COL25A1-related condition +1 more	GLikely benign
Select item 1324108	NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter)	COL25A1 (R128*)	Single nucleotide variant (nonsense +1 more)	Fibrosis of extraocular muscles, congenital, 5	GLikely pathogenic
Select item 145840	GRCh38/hg38 4q25(chr4:109267901-109469145)x3	COL25A1, COL25A1-DT +5 more	Copy number gain	See cases	GLikely benign
Select item 2498959	NM_198721.4(COL25A1):c.367+4A>G	COL25A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3147492	NM_198721.4(COL25A1):c.344C>T (p.Pro115Leu)	COL25A1 (P115L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 723285	NM_198721.4(COL25A1):c.330C>T (p.Ile110=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3147491	NM_198721.4(COL25A1):c.316G>A (p.Ala106Thr)	COL25A1 (A106T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558742	NM_198721.4(COL25A1):c.308A>G (p.Glu103Gly)	COL25A1 (E103G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1206103	NM_198721.4(COL25A1):c.305A>G (p.Tyr102Cys)	COL25A1 (Y102C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 721553	NM_198721.4(COL25A1):c.288T>C (p.Leu96=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2476820	NM_198721.4(COL25A1):c.273G>T (p.Glu91Asp)	COL25A1 (E91D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 757458	NM_198721.4(COL25A1):c.229C>T (p.Leu77=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3040159	NM_198721.4(COL25A1):c.216C>G (p.Ala72=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	COL25A1-related condition	GLikely benign
Select item 786517	NM_198721.4(COL25A1):c.204C>T (p.Ser68=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2481174	NM_198721.4(COL25A1):c.189C>G (p.Ile63Met)	COL25A1 (I63M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406449	NM_198721.4(COL25A1):c.172G>A (p.Asp58Asn)	COL25A1 (D58N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2523326	NM_198721.4(COL25A1):c.140T>C (p.Val47Ala)	COL25A1 (V47A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1331014	NM_198721.4(COL25A1):c.130G>A (p.Val44Met)	COL25A1 (V44M)	Single nucleotide variant (missense variant +1 more)	Fibrosis of extraocular muscles, congenital, 5 +1 more	GUncertain significance
Select item 2655022	NM_198721.4(COL25A1):c.117C>T (p.Ala39=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3147486	NM_198721.4(COL25A1):c.116C>T (p.Ala39Val)	COL25A1 (A39V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541902	NM_198721.4(COL25A1):c.98C>T (p.Pro33Leu)	COL25A1 (P33L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324564	NM_198721.4(COL25A1):c.98C>A (p.Pro33Gln)	COL25A1 (P33Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147498	NM_198721.4(COL25A1):c.68C>A (p.Ala23Asp)	COL25A1 (A23D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557009	NM_198721.4(COL25A1):c.59C>T (p.Pro20Leu)	COL25A1 (P20L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147493	NM_198721.4(COL25A1):c.37C>T (p.Arg13Trp)	COL25A1 (R13W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 725197	NM_198721.4(COL25A1):c.36C>T (p.Gly12=)	COL25A1	Single nucleotide variant (synonymous variant +1 more)	COL25A1-related condition +1 more	GLikely benign
Select item 3147490	NM_198721.4(COL25A1):c.19G>T (p.Ala7Ser)	COL25A1 (A7S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050184	NM_198721.4(COL25A1):c.7C>G (p.Leu3Val)	COL25A1 (L3V)	Single nucleotide variant (missense variant +1 more)	COL25A1-related condition	GLikely benign
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 814597	GRCh37/hg19 4q25(chr4:110158710-110393594)x3	COL25A1, SEC24B +1 more	Copy number gain	not provided	GUncertain significance
Select item 814596	GRCh37/hg19 4q25(chr4:109774482-109830388)x1	COL25A1	Copy number loss	not provided	GUncertain significance
Select item 688850	GRCh37/hg19 4q25(chr4:110155156-110386827)x3	COL25A1, SEC24B +1 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic

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