ClinVar for MedGen (Select 98378) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683724	NM_000095.3(COMP):c.950A>G (p.Asp317Gly)	COMP (D317G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2505557	NM_000095.3(COMP):c.1417G>C (p.Asp473His)	COMP (D473H)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 2444368	NM_000095.3(COMP):c.1316A>G (p.Asp439Gly)	COMP (D439G)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 1723871	NM_000095.3(COMP):c.1045G>C (p.Asp349His)	COMP (D349H)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GPathogenic
Select item 1723867	NM_000095.3(COMP):c.1545C>A (p.Asp515Glu)	COMP (D515E)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 1683451	NM_000095.3(COMP):c.1521C>G (p.Asp507Glu)	COMP (D507E)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 1683450	NM_000095.3(COMP):c.1309G>C (p.Asp437His)	COMP (D437H)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GPathogenic
Select item 1683448	NM_000095.3(COMP):c.1051T>C (p.Cys351Arg)	COMP (C351R)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 1683447	NM_000095.3(COMP):c.891C>A (p.Asn297Lys)	COMP (N297K)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 1679945	NM_000095.3(COMP):c.868G>T (p.Asp290Tyr)	COMP (D290Y)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GPathogenic
Select item 1679874	NM_000095.3(COMP):c.1394G>T (p.Gly465Val)	COMP (G465V)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
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 1332846	NM_000095.3(COMP):c.983G>T (p.Cys328Phe)	COMP (C328F)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 1332831	NM_000095.3(COMP):c.925G>A (p.Gly309Arg)	COMP (G309R)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GPathogenic
Select item 1298752	NM_000095.3(COMP):c.805G>A (p.Asp269Asn)	COMP (D269N)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1055812	NM_000095.3(COMP):c.1309G>T (p.Asp437Tyr)	COMP (D437Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1038772	NM_000095.3(COMP):c.811G>T (p.Asp271Tyr)	COMP (D271Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 998037	NM_000095.3(COMP):c.1210G>A (p.Gly404Arg)	COMP (G404R)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	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 818219	NM_000095.3(COMP):c.1416_1421del (p.Asn474_Asp475del)	COMP	Deletion (inframe_deletion)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
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 818217	NM_000095.3(COMP):c.1201G>C (p.Asp401His)	COMP (D401H)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely 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 818215	NM_000095.3(COMP):c.1445A>T (p.Asp482Val)	COMP (D482V)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 807399	NM_000095.3(COMP):c.1368GGA[1] (p.Glu457del)	COMP (E457del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 803550	NM_000095.3(COMP):c.818A>T (p.Asp273Val)	COMP (D273V)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 803549	NM_000095.3(COMP):c.950A>T (p.Asp317Val)	COMP (D317V)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 803548	NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr)	COMP (D439Y)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GPathogenic/Likely pathogenic
Select item 803547	NM_000095.3(COMP):c.1552G>C (p.Asp518His)	COMP (D518H)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	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 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 369261	NM_000095.2(COMP):c.*155G>C	COMP	Single nucleotide variant	Multiple Epiphyseal Dysplasia, Dominant +1 more	GLikely benign
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 40997	NM_000095.3(COMP):c.2155G>A (p.Gly719Ser)	COMP (G719S)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 40996	NM_000095.3(COMP):c.1760A>G (p.His587Arg)	COMP (H587R)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 40995	NM_000095.3(COMP):c.1754C>T (p.Thr585Met)	COMP (T585M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 40993	NM_000095.3(COMP):c.1754C>A (p.Thr585Lys)	COMP (T585K)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Gnot provided
Select item 40992	NM_000095.3(COMP):c.1747G>A (p.Glu583Lys)	COMP (E583K)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Gnot provided
Select item 40990	NM_000095.3(COMP):c.1586C>T (p.Thr529Ile)	COMP (T529I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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