ClinVar for MedGen (Select 325376) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069181	NM_000095.3(COMP):c.1303G>C (p.Asp435His)	COMP (D435H)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 3069180	NM_000095.3(COMP):c.1854G>C (p.Glu618Asp)	COMP (E618D)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GUncertain significance
Select item 3066342	NM_000095.3(COMP):c.1213G>A (p.Asp405Asn)	COMP (D405N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GUncertain significance
Select item 3065273	NM_000095.3(COMP):c.1586C>A (p.Thr529Asn)	COMP (T529N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 2431670	NM_000095.3(COMP):c.1285_1286dup (p.Cys430fs)	COMP (C430fs)	Duplication (frameshift variant)	Multiple epiphyseal dysplasia type 1	GUncertain significance
Select item 2412784	NM_000095.3(COMP):c.818A>G (p.Asp273Gly)	COMP (D273G)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 1709017	NM_000095.3(COMP):c.1665C>G (p.Asn555Lys)	COMP (N555K)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1698391	NM_000095.3(COMP):c.2048G>A (p.Arg683His)	COMP (R683H)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GUncertain significance
Select item 1685287	NM_000095.3(COMP):c.949G>T (p.Asp317Tyr)	COMP (D317Y)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 1683453	NM_000095.3(COMP):c.1367A>C (p.Gln456Pro)	COMP (Q456P)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 1683452	NM_000095.3(COMP):c.886C>T (p.Pro296Ser)	COMP (P296S)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GPathogenic
Select item 1683446	NM_000095.3(COMP):c.2170dup (p.Val724fs)	COMP (V724fs)	Duplication (frameshift variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 1676245	NM_000095.3(COMP):c.1126G>A (p.Asp376Asn)	COMP (D376N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 1510992	NM_000095.3(COMP):c.2092C>T (p.Arg698Ter)	COMP (R698*)	Single nucleotide variant (nonsense)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 1404680	NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del)	COMP (D374del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1339213	NM_000095.3(COMP):c.1201G>T (p.Asp401Tyr)	COMP (D401Y)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 1333791	NM_000095.3(COMP):c.314C>T (p.Thr105Met)	COMP (T105M)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GUncertain significance
Select item 1332822	NM_000095.3(COMP):c.976G>A (p.Asp326Asn)	COMP (D326N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1332753	NM_000088.4(COL1A1):c.2029-1G>T	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta, perinatal lethal +1 more	GPathogenic
Select item 1327423	NM_000095.3(COMP):c.1501G>A (p.Gly501Ser)	COMP (G501S)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +1 more	GLikely pathogenic
Select item 1299574	NM_000095.3(COMP):c.1228T>G (p.Cys410Gly)	COMP (C410G)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 1285544	NM_000095.3(COMP):c.595A>G (p.Asn199Asp)	COMP (N199D)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GUncertain significance
Select item 1066197	NM_000095.3(COMP):c.1317C>G (p.Asp439Glu)	COMP (D439E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1049010	NM_000095.3(COMP):c.968A>G (p.Asn323Ser)	COMP (N323S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992397	NM_000095.3(COMP):c.1454G>A (p.Arg485His)	COMP (R485H)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	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 988351	NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)	COMP (D385N)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 2 +3 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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 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 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 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 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 890313	NM_000095.3(COMP):c.-15C>T	COMP	Single nucleotide variant (5 prime UTR 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 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 890213	NM_000095.3(COMP):c.643G>C (p.Gly215Arg)	COMP (G215R)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more	GUncertain significance
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 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 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 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 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 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 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 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 888609	NM_000095.3(COMP):c.11A>C (p.Asp4Ala)	COMP (D4A)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 818218	NM_000095.3(COMP):c.874T>C (p.Cys292Arg)	COMP (C292R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 818216	NM_000095.3(COMP):c.1309G>A (p.Asp437Asn)	COMP (D437N)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 807400	NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr)	COMP (D385Y)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GPathogenic
Select item 777452	NM_000095.3(COMP):c.1956C>T (p.Asn652=)	COMP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 723292	NM_000095.3(COMP):c.360C>T (p.Gly120=)	COMP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 692048	NM_000095.3(COMP):c.763T>C (p.Cys255Arg)	COMP (C255R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 692045	NM_000095.3(COMP):c.887C>G (p.Pro296Arg)	COMP (P296R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 692028	NM_000095.3(COMP):c.1315G>A (p.Asp439Asn)	COMP (D439N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 635466	NM_000095.3(COMP):c.2150T>G (p.Met717Arg)	COMP (M717R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GUncertain significance
Select item 623129	NM_000095.3(COMP):c.1265A>C (p.Asp422Ala)	COMP (D422A)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
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 438839	NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr)	COMP (D376Y)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GLikely pathogenic
Select item 430605	NM_000095.3(COMP):c.1489+2T>A	COMP	Single nucleotide variant (splice donor variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
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 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 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 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 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 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 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 328625	NM_000095.3(COMP):c.279C>A (p.Pro93=)	COMP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 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 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 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 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 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 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 328616	NM_000095.3(COMP):c.868-4C>T	COMP	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 328614	NM_000095.3(COMP):c.1668+13T>A	COMP	Single nucleotide variant (intron variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more	GBenign/Likely benign
Select item 328613	NM_000095.3(COMP):c.1668+13T>G	COMP	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia type 1 +2 more	GBenign
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 328611	NM_000095.3(COMP):c.1979C>G (p.Thr660Arg)	COMP (T660R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 328609	NM_000095.3(COMP):c.2227+8G>A	COMP	Single nucleotide variant (intron variant)	not provided +3 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 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 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 255125	NM_000095.3(COMP):c.762+12C>A	COMP	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
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 255122	NM_000095.3(COMP):c.218-14C>T	COMP	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
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 255117	NM_000095.3(COMP):c.*1G>C	COMP	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
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 40994	NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	COMP (T585R)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 2 +2 more	GPathogenic
Select item 40988	NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del)	COMP (D473del)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic
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

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