ClinVar for Gene (Select 1047) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267717	NM_004362.3(CLGN):c.401A>G (p.Asp134Gly)	CLGN (D134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267716	NM_004362.3(CLGN):c.1456T>G (p.Leu486Val)	CLGN (L486V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267715	NM_004362.3(CLGN):c.868G>T (p.Val290Phe)	CLGN (V290F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145742	NM_004362.3(CLGN):c.991G>A (p.Asp331Asn)	CLGN (D331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145741	NM_004362.3(CLGN):c.970G>A (p.Asp324Asn)	CLGN (D324N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145740	NM_004362.3(CLGN):c.81G>C (p.Glu27Asp)	CLGN (E27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145739	NM_004362.3(CLGN):c.7T>A (p.Phe3Ile)	CLGN (F3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145738	NM_004362.3(CLGN):c.76G>A (p.Val26Ile)	CLGN (V26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145737	NM_004362.3(CLGN):c.748A>G (p.Lys250Glu)	CLGN (K250E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145736	NM_004362.3(CLGN):c.586A>G (p.Arg196Gly)	CLGN (R196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145735	NM_004362.3(CLGN):c.373G>A (p.Val125Ile)	CLGN (V125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145734	NM_004362.3(CLGN):c.274G>A (p.Asp92Asn)	CLGN (D92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145733	NM_004362.3(CLGN):c.1823G>A (p.Arg608Gln)	CLGN (R608Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145732	NM_004362.3(CLGN):c.1603G>T (p.Asp535Tyr)	CLGN (D535Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145731	NM_004362.3(CLGN):c.1585G>A (p.Ala529Thr)	CLGN (A529T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145730	NM_004362.3(CLGN):c.1520A>C (p.Lys507Thr)	CLGN (K507T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145729	NM_004362.3(CLGN):c.1234G>T (p.Gly412Cys)	CLGN (G412C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145728	NM_004362.3(CLGN):c.1119A>T (p.Arg373Ser)	CLGN (R373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062765	GRCh37/hg19 4q31.1(chr4:140930352-141499318)x3	CLGN, ELMOD2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2611614	NM_004362.3(CLGN):c.1328G>A (p.Gly443Asp)	CLGN (G443D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611566	NM_004362.3(CLGN):c.443G>T (p.Gly148Val)	CLGN (G148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604309	NM_004362.3(CLGN):c.51T>G (p.Ile17Met)	CLGN (I17M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597509	NM_004362.3(CLGN):c.1292C>T (p.Ser431Leu)	CLGN (S431L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594810	NM_004362.3(CLGN):c.309C>A (p.Asn103Lys)	CLGN (N103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594251	NM_004362.3(CLGN):c.1808G>A (p.Arg603His)	CLGN (R603H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537016	NM_004362.3(CLGN):c.129T>A (p.Ser43Arg)	CLGN (S43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521246	NM_004362.3(CLGN):c.1660A>G (p.Ser554Gly)	CLGN (S554G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2478526	NM_004362.3(CLGN):c.1085T>A (p.Met362Lys)	CLGN (M362K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475025	NM_004362.3(CLGN):c.1637A>C (p.Glu546Ala)	CLGN (E546A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466238	NM_004362.3(CLGN):c.498T>G (p.Ile166Met)	CLGN (I166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460129	NM_004362.3(CLGN):c.1718G>A (p.Ser573Asn)	CLGN (S573N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369568	NM_004362.3(CLGN):c.1309G>T (p.Asp437Tyr)	CLGN (D437Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322735	NM_004362.3(CLGN):c.970G>C (p.Asp324His)	CLGN (D324H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309071	NM_004362.3(CLGN):c.1160G>A (p.Ser387Asn)	CLGN (S387N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307806	NM_004362.3(CLGN):c.628G>A (p.Ala210Thr)	CLGN (A210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226185	NM_004362.3(CLGN):c.83C>T (p.Thr28Met)	CLGN (T28M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1340411	GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1	CLGN, ELF2 +15 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 814609	GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1	MGAT4D, SETD7 +14 more	Copy number loss	not provided	GPathogenic
Select item 785108	NM_004362.3(CLGN):c.555T>C (p.Cys185=)	CLGN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
Select item 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 686467	GRCh37/hg19 4q31.1-31.21(chr4:141176846-142078534)x3	CLGN, ELMOD2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 599573	NM_004362.3(CLGN):c.386C>A (p.Pro129Gln)	CLGN (P129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599572	NM_004362.3(CLGN):c.731A>G (p.Asp244Gly)	CLGN (D244G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599571	NM_004362.3(CLGN):c.959A>G (p.Lys320Arg)	CLGN (K320R)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 562970	GRCh37/hg19 4q31.1(chr4:140924159-141492943)x3	UCP1, MAML3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	GPathogenic
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	CFAP97, CFI +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	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 73