ClinVar for MedGen (Select 342428) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685950	NM_004530.6(MMP2):c.691G>T (p.Glu231Ter)	MMP2 (E155* +2 more)	Single nucleotide variant (nonsense)	Multicentric osteolysis nodulosis arthropathy spectrum	GPathogenic
Select item 1426993	NM_004530.6(MMP2):c.1453A>T (p.Ile485Phe)	MMP2 (I409F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341994	NM_004530.6(MMP2):c.301C>T (p.Arg101Cys)	MMP2 (R101C +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GPathogenic
Select item 1332865	NM_004530.6(MMP2):c.789C>A (p.Tyr263Ter)	MMP2 (Y187* +2 more)	Single nucleotide variant (nonsense)	Multicentric osteolysis nodulosis arthropathy spectrum	GPathogenic
Select item 1332856	NM_004530.6(MMP2):c.306C>A (p.Cys102Ter)	MMP2 (C102* +2 more)	Single nucleotide variant (nonsense)	Multicentric osteolysis nodulosis arthropathy spectrum	GLikely pathogenic
Select item 1332696	NM_004530.6(MMP2):c.1229G>T (p.Gly410Val)	MMP2 (G334V +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 1332689	NM_004530.6(MMP2):c.910_916del (p.Ser304fs)	MMP2 (S228fs +2 more)	Deletion (frameshift variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GPathogenic
Select item 1301666	NM_004530.6(MMP2):c.1013C>T (p.Ser338Phe)	MMP2 (S262F +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 1299551	NM_004530.6(MMP2):c.1456TTC[2] (p.Phe488del)	MMP2 (F412del +2 more)	Microsatellite (inframe_deletion)	Multicentric osteolysis nodulosis arthropathy spectrum	GLikely pathogenic
Select item 1299550	NM_004530.6(MMP2):c.529G>A (p.Glu177Lys)	MMP2 (E101K +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GLikely pathogenic
Select item 1032226	NM_004530.6(MMP2):c.380+6G>A	MMP2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1029860	NM_004530.6(MMP2):c.628G>T (p.Asp210Tyr)	MMP2 (D160Y +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 915430	NM_004530.6(MMP2):c.1648C>T (p.Arg550Ter)	MMP2 (R550* +2 more)	Single nucleotide variant (nonsense)	Multicentric osteolysis nodulosis arthropathy spectrum	GPathogenic
Select item 888373	NM_004530.6(MMP2):c.*277G>A	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 888372	NM_004530.6(MMP2):c.*250C>T	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 888371	NM_004530.6(MMP2):c.*183A>G	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GBenign
Select item 888307	NM_004530.6(MMP2):c.1493C>T (p.Thr498Met)	MMP2 (T422M +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 888306	NM_004530.6(MMP2):c.1484G>A (p.Arg495Gln)	MMP2 (R445Q +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum +1 more	GUncertain significance
Select item 888305	NM_004530.6(MMP2):c.1276A>C (p.Thr426Pro)	MMP2 (T426P +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 888243	NM_004530.6(MMP2):c.115G>A (p.Gly39Ser)	MMP2 (G39S)	Single nucleotide variant (missense variant +1 more)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 888242	NM_004530.6(MMP2):c.38C>G (p.Pro13Arg)	MMP2 (P13R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 887176	NM_004530.6(MMP2):c.*1204A>G	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 887105	NM_004530.6(MMP2):c.*111G>A	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GBenign
Select item 887104	NM_004530.6(MMP2):c.*93C>T	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GBenign
Select item 887103	NM_004530.6(MMP2):c.*43G>A	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 887036	NM_004530.6(MMP2):c.969C>T (p.Tyr323=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886975	NM_004530.6(MMP2):c.-147T>A	MMP2	Single nucleotide variant (5 prime UTR variant +1 more)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 886164	NM_004530.6(MMP2):c.*1048C>T	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 886163	NM_004530.6(MMP2):c.*1029G>A	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 886162	NM_004530.6(MMP2):c.*1012T>A	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 886161	NM_004530.6(MMP2):c.*799G>A	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 886044	NM_004530.6(MMP2):c.920C>T (p.Thr307Ile)	MMP2 (T307I +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 886043	NM_004530.6(MMP2):c.890T>A (p.Phe297Tyr)	MMP2 (F247Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886042	NM_004530.6(MMP2):c.887G>A (p.Arg296His)	MMP2 (R246H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 886041	NM_004530.6(MMP2):c.813C>T (p.Tyr271=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885268	NM_004530.6(MMP2):c.*642T>C	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 885267	NM_004530.6(MMP2):c.*523T>C	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GLikely benign
Select item 885266	NM_004530.6(MMP2):c.*505T>G	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 885204	NM_004530.6(MMP2):c.1685C>T (p.Pro562Leu)	MMP2 (P562L +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum +1 more	GUncertain significance
Select item 885203	NM_004530.6(MMP2):c.1634C>T (p.Ala545Val)	MMP2 (A495V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 885202	NM_004530.6(MMP2):c.1627T>C (p.Tyr543His)	MMP2 (Y493H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 885201	NM_004530.6(MMP2):c.1560T>C (p.Ile520=)	MMP2	Single nucleotide variant (synonymous variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 885200	NM_004530.6(MMP2):c.1551G>A (p.Pro517=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885137	NM_004530.6(MMP2):c.474G>A (p.Arg158=)	MMP2	Single nucleotide variant (synonymous variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 885136	NM_004530.6(MMP2):c.344G>T (p.Arg115Leu)	MMP2 (R65L +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 885135	NM_004530.6(MMP2):c.306C>T (p.Cys102=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885134	NM_004530.6(MMP2):c.153+12C>T	MMP2	Single nucleotide variant (intron variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 789085	NM_004530.6(MMP2):c.1861G>C (p.Val621Leu)	MMP2 (V571L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 736936	NM_004530.6(MMP2):c.1499G>A (p.Arg500His)	MMP2 (R500H +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum +2 more	GBenign
Select item 732303	NM_004530.6(MMP2):c.1842C>T (p.Pro614=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 729361	NM_004530.6(MMP2):c.96G>T (p.Ser32=)	MMP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 720508	NM_004530.6(MMP2):c.1227G>A (p.Met409Ile)	MMP2 (M359I +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum +1 more	GBenign
Select item 714021	NM_004530.6(MMP2):c.1860C>T (p.Val620=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 690375	NM_004530.6(MMP2):c.377A>G (p.Tyr126Cys)	MMP2 (Y126C +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 625853	NM_017839.5(LPCAT2):c.172-6188G>A	LPCAT2	Single nucleotide variant (intron variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GPathogenic
Select item 499458	NM_004530.6(MMP2):c.1802G>T (p.Gly601Val)	MMP2 (G601V +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 498527	NM_004530.6(MMP2):c.496G>A (p.Glu166Lys)	MMP2 (E166K +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum +3 more	GBenign/Likely benign
Select item 374345	NM_004530.6(MMP2):c.539A>T (p.Asp180Val)	MMP2 (D180V +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319787	NM_004530.6(MMP2):c.*1204A>T	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319786	NM_004530.6(MMP2):c.*1062C>T	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GBenign
Select item 319785	NM_004530.6(MMP2):c.*930C>T	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319784	NM_004530.6(MMP2):c.*872C>T	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GBenign
Select item 319783	NM_004530.6(MMP2):c.*853A>G	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319782	NM_004530.6(MMP2):c.*669C>G	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GBenign
Select item 319781	NM_004530.6(MMP2):c.*627T>C	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319779	NM_004530.6(MMP2):c.*498A>G	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319778	NM_004530.6(MMP2):c.*453C>G	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GLikely benign
Select item 319777	NM_004530.6(MMP2):c.*400G>A	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GBenign
Select item 319776	NM_004530.6(MMP2):c.*260A>C	MMP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 319775	NM_004530.6(MMP2):c.*228C>T	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319774	NM_004530.6(MMP2):c.*212C>T	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GLikely benign
Select item 319773	NM_004530.6(MMP2):c.*170G>A	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GBenign
Select item 319772	NM_004530.6(MMP2):c.*159T>C	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GBenign
Select item 319771	NM_004530.6(MMP2):c.*132T>A	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319770	NM_004530.6(MMP2):c.*51G>A	MMP2	Single nucleotide variant (3 prime UTR variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319769	NM_004530.6(MMP2):c.1842C>G (p.Pro614=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 319768	NM_004530.6(MMP2):c.1806C>T (p.Phe602=)	MMP2	Single nucleotide variant (synonymous variant)	Multicentric osteolysis nodulosis arthropathy spectrum +1 more	GBenign
Select item 319767	NM_004530.6(MMP2):c.1779G>A (p.Glu593=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319766	NM_004530.6(MMP2):c.1770-4A>G	MMP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 319765	NM_004530.6(MMP2):c.1769+10G>A	MMP2	Single nucleotide variant (intron variant)	Multicentric osteolysis nodulosis arthropathy spectrum +1 more	GBenign/Likely benign
Select item 319764	NM_004530.6(MMP2):c.1758C>A (p.Asp586Glu)	MMP2 (D586E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 319763	NM_004530.6(MMP2):c.1572C>T (p.Tyr524=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319762	NM_004530.6(MMP2):c.1567G>T (p.Val523Leu)	MMP2 (V523L +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319761	NM_004530.6(MMP2):c.1380G>A (p.Thr460=)	MMP2	Single nucleotide variant (synonymous variant)	Multicentric osteolysis nodulosis arthropathy spectrum +1 more	GBenign
Select item 319760	NM_004530.6(MMP2):c.1340C>T (p.Ala447Val)	MMP2 (A447V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 319759	NM_004530.6(MMP2):c.1337-7T>C	MMP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 319758	NM_004530.6(MMP2):c.1336+11G>A	MMP2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319757	NM_004530.6(MMP2):c.1233G>A (p.Leu411=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319756	NM_004530.6(MMP2):c.1149T>C (p.Asp383=)	MMP2	Single nucleotide variant (synonymous variant)	Multicentric osteolysis nodulosis arthropathy spectrum +1 more	GBenign
Select item 319755	NM_004530.6(MMP2):c.1144G>A (p.Asp382Asn)	MMP2 (D382N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 319754	NM_004530.6(MMP2):c.1098C>T (p.Ala366=)	MMP2	Single nucleotide variant (synonymous variant)	Multicentric osteolysis nodulosis arthropathy spectrum +1 more	GBenign
Select item 319753	NM_004530.6(MMP2):c.1066C>T (p.Leu356=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 319752	NM_004530.6(MMP2):c.832+12C>T	MMP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 319751	NM_004530.6(MMP2):c.750C>T (p.Thr250=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 319750	NM_004530.6(MMP2):c.678G>C (p.Gly226=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 319749	NM_004530.6(MMP2):c.658+13C>T	MMP2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319748	NM_004530.6(MMP2):c.658+10G>A	MMP2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319747	NM_004530.6(MMP2):c.588C>T (p.Ala196=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319746	NM_004530.6(MMP2):c.51C>T (p.Leu17=)	MMP2	Single nucleotide variant (synonymous variant +1 more)	MMP2-related condition +2 more	GBenign/Likely benign
Select item 319745	NM_004530.6(MMP2):c.-2C>A	MMP2	Single nucleotide variant (5 prime UTR variant +1 more)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance

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