"GeneDx"[submitter] AND "COMP"[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1205163	NC_000019.10:g.18782619C>G	COMP	Single nucleotide variant	not provided	GLikely benign
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 1241724	NM_000095.3(COMP):c.*61G>A	COMP	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 255117	NM_000095.3(COMP):c.*1G>C	COMP	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign
Select item 255124	NM_000095.3(COMP):c.2267A>G (p.Gln756Arg)	COMP (Q756R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 194913	NM_000095.3(COMP):c.2262G>A (p.Leu754=)	COMP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 255123	NM_000095.3(COMP):c.2228-40T>C	COMP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3371449	NM_000095.3(COMP):c.2155G>C (p.Gly719Arg)	COMP (G719R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 769450	NM_000095.3(COMP):c.2152C>A (p.Arg718=)	COMP	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 9198	NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	COMP (R718W)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1256827	NM_000095.3(COMP):c.2087+98C>T	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504690	NM_000095.3(COMP):c.2077G>T (p.Gly693Cys)	COMP (G693C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373041	NM_000095.3(COMP):c.2028G>C (p.Trp676Cys)	COMP (W676C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037572	NM_000095.3(COMP):c.2012C>A (p.Pro671Gln)	COMP (P671Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699763	NM_000095.3(COMP):c.1978A>G (p.Thr660Ala)	COMP (T660A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 255121	NM_000095.3(COMP):c.1915-45C>T	COMP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1217492	NM_000095.3(COMP):c.1915-96C>T	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287397	NM_000095.3(COMP):c.1915-197C>T	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
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 255119	NM_000095.3(COMP):c.1755G>A (p.Thr585=)	COMP	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 1 +4 more	GBenign
Select item 40995	NM_000095.3(COMP):c.1754C>T (p.Thr585Met)	COMP (T585M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1260527	NM_000095.3(COMP):c.1718-143G>T	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287565	NM_000095.3(COMP):c.1718-185G>C	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579325	NM_000095.3(COMP):c.1682T>C (p.Val561Ala)	COMP (V561A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618040	NM_000095.3(COMP):c.1675G>A (p.Glu559Lys)	COMP (E559K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 40990	NM_000095.3(COMP):c.1586C>T (p.Thr529Ile)	COMP (T529I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432270	NM_000095.3(COMP):c.1569C>A (p.Asn523Lys)	COMP (N523K)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 420111	NM_000095.3(COMP):c.1533C>G (p.Asp511Glu)	COMP (D511E)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 2579388	NM_000095.3(COMP):c.1526A>G (p.Asp509Gly)	COMP (D509G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 729453	NM_000095.3(COMP):c.1506C>T (p.Asp502=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449473	NM_000095.3(COMP):c.1502G>A (p.Gly501Asp)	COMP (G501D)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 3370748	NM_000095.3(COMP):c.1490-1G>A	COMP	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3365270	NM_000095.3(COMP):c.1490-1G>C	COMP	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1312545	NM_000095.3(COMP):c.1471G>A (p.Gly491Ser)	COMP (G491S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 40988	NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del)	COMP (D473del)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic
Select item 452263	NM_000095.3(COMP):c.1334G>A (p.Arg445Gln)	COMP (R445Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429931	NM_000095.3(COMP):c.1322A>G (p.His441Arg)	COMP (H441R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 2578090	NM_000095.3(COMP):c.1280G>C (p.Gly427Ala)	COMP (G427A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 737996	NM_000095.3(COMP):c.1255-5C>T	COMP	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 449006	NM_000095.3(COMP):c.1255-26G>A	COMP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1196579	NM_000095.3(COMP):c.1255-79G>A	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381655	NM_000095.3(COMP):c.1222G>A (p.Asp408Asn)	COMP (D408N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 449474	NM_000095.3(COMP):c.1195G>A (p.Asp399Asn)	COMP (D399N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 40987	NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)	COMP (N386D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1264421	NM_000095.3(COMP):c.1136-68dup	COMP	Duplication (intron variant)	not provided	GBenign
Select item 1227829	NM_000095.3(COMP):c.1136-142_1136-140dup	COMP	Duplication (intron variant)	not provided	GBenign
Select item 1287846	NM_000095.3(COMP):c.1136-119_1136-114del	COMP	Deletion (intron variant)	not provided	GBenign
Select item 1273328	NM_000095.3(COMP):c.1136-118_1136-114del	COMP	Deletion (intron variant)	not provided	GBenign
Select item 1242063	NM_000095.3(COMP):c.1136-127_1136-114del	COMP	Deletion (intron variant)	not provided	GBenign
Select item 1180009	NM_000095.3(COMP):c.1136-114del	COMP	Deletion (intron variant)	not provided	GLikely benign
Select item 1200194	NM_000095.3(COMP):c.1135+305C>T	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381656	NM_000095.3(COMP):c.1112G>A (p.Cys371Tyr)	COMP (C371Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 420112	NM_000095.3(COMP):c.1021_1026del (p.Glu341_Asp342del)	COMP	Deletion (inframe_deletion)	not provided	GPathogenic/Likely pathogenic
Select item 1286926	NM_000095.3(COMP):c.976-216G>A	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283710	NM_000095.3(COMP):c.976-219_976-218dup	COMP	Duplication (intron variant)	not provided	GBenign
Select item 1281431	NM_000095.3(COMP):c.976-223_976-222dup	COMP	Duplication (intron variant)	not provided	GBenign
Select item 1246686	NM_000095.3(COMP):c.976-240_976-223del	COMP	Deletion (intron variant)	not provided	GBenign
Select item 1207405	NM_000095.3(COMP):c.976-244_976-223del	COMP	Deletion (intron variant)	not provided	GLikely benign
Select item 1198475	NM_000095.3(COMP):c.976-236_976-223del	COMP	Deletion (intron variant)	not provided	GLikely benign
Select item 1188101	NM_000095.3(COMP):c.976-224_976-223del	COMP	Deletion (intron variant)	not provided	GLikely benign
Select item 1186586	NM_000095.3(COMP):c.976-228_976-223del	COMP	Deletion (intron variant)	not provided	GLikely benign
Select item 1229003	NM_000095.3(COMP):c.975+235C>G	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309684	NM_000095.3(COMP):c.974A>T (p.Lys325Met)	COMP (K325M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 372764	NM_000095.3(COMP):c.956A>T (p.Asp319Val)	COMP (D319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428912	NM_000095.3(COMP):c.936C>A (p.Cys312Ter)	COMP (C312*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 280393	NM_000095.3(COMP):c.875G>T (p.Cys292Phe)	COMP (C292F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 391711	NM_000095.3(COMP):c.867+15A>G	COMP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2736859	NM_000095.3(COMP):c.827C>G (p.Pro276Arg)	COMP (P276R)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 430218	NM_000095.3(COMP):c.811G>C (p.Asp271His)	COMP (D271H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 429642	NM_000095.3(COMP):c.762+1G>A	COMP	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 1684129	NM_000095.3(COMP):c.746G>T (p.Gly249Val)	COMP (G249V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 890212	NM_000095.3(COMP):c.700C>T (p.Pro234Ser)	COMP (P234S)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1198366	NM_000095.3(COMP):c.604-2A>C	COMP	Single nucleotide variant (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 1195696	NM_000095.3(COMP):c.529-26G>A	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223234	NM_000095.3(COMP):c.528+76T>C	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426578	NM_000095.3(COMP):c.525G>C (p.Lys175Asn)	COMP (K175N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367700	NM_000095.3(COMP):c.517del (p.Ala173fs)	COMP (A173fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 197627	NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	COMP (A171T)	Single nucleotide variant (missense variant)	not specified +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 1530956	NM_000095.3(COMP):c.412C>G (p.Pro138Ala)	COMP (P138A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1281872	NM_000095.3(COMP):c.391-41G>A	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219969	NM_000095.3(COMP):c.391-71G>C	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288708	NM_000095.3(COMP):c.391-129T>A	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234780	NM_000095.3(COMP):c.391-168C>G	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274845	NM_000095.3(COMP):c.391-181G>A	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220983	NM_000095.3(COMP):c.391-254C>T	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200300	NM_000095.3(COMP):c.390+269C>A	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 328624	NM_000095.3(COMP):c.377C>T (p.Thr126Ile)	COMP (T126I)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 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 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 255122	NM_000095.3(COMP):c.218-14C>T	COMP	Single nucleotide variant (intron variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +3 more	GBenign/Likely benign
Select item 1524115	NM_000095.3(COMP):c.167T>C (p.Val56Ala)	COMP (V56A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251847	NC_000019.10:g.18791576TG[14]	COMP	Microsatellite	not provided	GBenign
Select item 1273528	NC_000019.10:g.18791576TG[12]	COMP	Microsatellite	not provided	GBenign

ClinVar

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Items: 99