"Illumina Laboratory Services, Illumina"[submitter] AND "COMP"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369261	NM_000095.2(COMP):c.*155G>C	COMP	Single nucleotide variant	Multiple Epiphyseal Dysplasia, Dominant +1 more	GLikely benign
Select item 328606	NM_000095.3(COMP):c.*111A>G	COMP	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 328607	NM_000095.3(COMP):c.*92G>A	COMP	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 1 +2 more	GBenign/Likely benign
Select item 328608	NM_000095.3(COMP):c.*15A>G	COMP	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 1 +1 more	GBenign
Select item 255117	NM_000095.3(COMP):c.*1G>C	COMP	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 890687	NM_000095.3(COMP):c.2272T>C (p.Ter758Gln)	COMP	Single nucleotide variant (stop lost)	COMP-related disorders	GUncertain significance
Select item 255124	NM_000095.3(COMP):c.2267A>G (p.Gln756Arg)	COMP (Q756R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 328609	NM_000095.3(COMP):c.2227+8G>A	COMP	Single nucleotide variant (intron variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 891938	NM_000095.3(COMP):c.2213G>A (p.Arg738His)	COMP (R738H)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +2 more	GConflicting classifications of pathogenicity
Select item 769450	NM_000095.3(COMP):c.2152C>A (p.Arg718=)	COMP	Single nucleotide variant (synonymous variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +3 more	GBenign/Likely benign
Select item 891939	NM_000095.3(COMP):c.2014C>T (p.Arg672Ter)	COMP (R672*)	Single nucleotide variant (nonsense)	COMP-related disorders +1 more	GUncertain significance
Select item 328610	NM_000095.3(COMP):c.1993C>A (p.Arg665=)	COMP	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 328611	NM_000095.3(COMP):c.1979C>G (p.Thr660Arg)	COMP (T660R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 777452	NM_000095.3(COMP):c.1956C>T (p.Asn652=)	COMP	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 1 +3 more	GBenign/Likely benign
Select item 889494	NM_000095.3(COMP):c.1894G>A (p.Glu632Lys)	COMP (E632K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 328612	NM_000095.3(COMP):c.1836C>G (p.Val612=)	COMP	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 890165	NM_000095.3(COMP):c.1803T>C (p.Phe601=)	COMP	Single nucleotide variant (synonymous variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 255119	NM_000095.3(COMP):c.1755G>A (p.Thr585=)	COMP	Single nucleotide variant (synonymous variant)	Carpal tunnel syndrome 2 +4 more	GBenign
Select item 328614	NM_000095.3(COMP):c.1668+13T>A	COMP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 328613	NM_000095.3(COMP):c.1668+13T>G	COMP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 890743	NM_000095.3(COMP):c.1621C>G (p.Pro541Ala)	COMP (P541A)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GUncertain significance
Select item 328615	NM_000095.3(COMP):c.1590C>A (p.Asp530Glu)	COMP (D530E)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +3 more	GConflicting classifications of pathogenicity
Select item 890744	NM_000095.3(COMP):c.1406A>T (p.Asp469Val)	COMP (D469V)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GUncertain significance
Select item 989361	NM_000095.3(COMP):c.1403G>C (p.Cys468Ser)	COMP (C468S)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 890745	NM_000095.3(COMP):c.1200C>T (p.Gly400=)	COMP	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 1 +2 more	GConflicting classifications of pathogenicity
Select item 40987	NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)	COMP (N386D)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GBenign
Select item 891982	NM_000095.3(COMP):c.924C>T (p.Ile308=)	COMP	Single nucleotide variant (synonymous variant)	COMP-related condition +2 more	GBenign/Likely benign
Select item 891983	NM_000095.3(COMP):c.876C>A (p.Cys292Ter)	COMP (C292*)	Single nucleotide variant (nonsense)	COMP-related disorders	GUncertain significance
Select item 328616	NM_000095.3(COMP):c.868-4C>T	COMP	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia type 1 +2 more	GConflicting classifications of pathogenicity
Select item 328617	NM_000095.3(COMP):c.867+11G>A	COMP	Single nucleotide variant (intron variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 889555	NM_000095.3(COMP):c.862C>A (p.Arg288Ser)	COMP (R288S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 889556	NM_000095.3(COMP):c.850G>A (p.Glu284Lys)	COMP (E284K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 328618	NM_000095.3(COMP):c.763-6C>G	COMP	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia type 1 +2 more	GConflicting classifications of pathogenicity
Select item 255125	NM_000095.3(COMP):c.762+12C>A	COMP	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 890212	NM_000095.3(COMP):c.700C>T (p.Pro234Ser)	COMP (P234S)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +3 more	GConflicting classifications of pathogenicity
Select item 890213	NM_000095.3(COMP):c.643G>C (p.Gly215Arg)	COMP (G215R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 328619	NM_000095.3(COMP):c.620G>A (p.Gly207Asp)	COMP (G207D)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 328620	NM_000095.3(COMP):c.588G>A (p.Val196=)	COMP	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 1 +1 more	GLikely benign
Select item 890787	NM_000095.3(COMP):c.582C>G (p.Asn194Lys)	COMP (N194K)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GUncertain significance
Select item 328621	NM_000095.3(COMP):c.566A>G (p.His189Arg)	COMP (H189R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 197627	NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	COMP (A171T)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +5 more	GBenign
Select item 328622	NM_000095.3(COMP):c.468G>T (p.Pro156=)	COMP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 328623	NM_000095.3(COMP):c.410T>C (p.Phe137Ser)	COMP (F137S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 892022	NM_000095.3(COMP):c.381C>T (p.Asp127=)	COMP	Single nucleotide variant (synonymous variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GUncertain significance
Select item 328624	NM_000095.3(COMP):c.377C>T (p.Thr126Ile)	COMP (T126I)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 723292	NM_000095.3(COMP):c.360C>T (p.Gly120=)	COMP	Single nucleotide variant (synonymous variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more	GBenign/Likely benign
Select item 889619	NM_000095.3(COMP):c.345C>G (p.Pro115=)	COMP	Single nucleotide variant (synonymous variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GUncertain significance
Select item 889620	NM_000095.3(COMP):c.327G>T (p.Ala109=)	COMP	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 889621	NM_000095.3(COMP):c.314C>A (p.Thr105Lys)	COMP (T105K)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GUncertain significance
Select item 328625	NM_000095.3(COMP):c.279C>A (p.Pro93=)	COMP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 890264	NM_000095.3(COMP):c.235C>A (p.Arg79Ser)	COMP (R79S)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GUncertain significance
Select item 890265	NM_000095.3(COMP):c.218-6C>G	COMP	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia type 1 +2 more	GBenign/Likely benign
Select item 328626	NM_000095.3(COMP):c.218-7C>G	COMP	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia type 1 +4 more	GConflicting classifications of pathogenicity
Select item 890831	NM_000095.3(COMP):c.218-13C>A	COMP	Single nucleotide variant (intron variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GUncertain significance
Select item 890832	NM_000095.3(COMP):c.218-14C>A	COMP	Single nucleotide variant (intron variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GUncertain significance
Select item 328627	NM_000095.3(COMP):c.218-14C>G	COMP	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 255122	NM_000095.3(COMP):c.218-14C>T	COMP	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 497722	NM_000095.3(COMP):c.218-15C>A	COMP	Single nucleotide variant (intron variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 892072	NM_000095.3(COMP):c.217+15G>A	COMP	Single nucleotide variant (intron variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GUncertain significance
Select item 328628	NM_000095.3(COMP):c.195G>A (p.Thr65=)	COMP	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 1 +2 more	GBenign
Select item 328629	NM_000095.3(COMP):c.165+9C>A	COMP	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 328630	NM_000095.3(COMP):c.87C>T (p.Asp29=)	COMP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 328631	NM_000095.3(COMP):c.69G>A (p.Gln23=)	COMP	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 888609	NM_000095.3(COMP):c.11A>C (p.Asp4Ala)	COMP (D4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 328632	NM_000095.3(COMP):c.-9G>T	COMP	Single nucleotide variant (5 prime UTR variant)	Multiple epiphyseal dysplasia type 1 +1 more	GBenign/Likely benign
Select item 890313	NM_000095.3(COMP):c.-15C>T	COMP	Single nucleotide variant (5 prime UTR variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GUncertain significance

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Items: 66