ClinVar for MedGen (Select 182959) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674873	NM_004006.3(DMD):c.11046+2T>C	DMD	Single nucleotide variant (splice donor variant +1 more)	Becker muscular dystrophy	GLikely pathogenic
Select item 2674872	NM_004006.3(DMD):c.2366_2373del (p.Glu789fs)	DMD (E666fs +3 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 2674871	NM_004006.3(DMD):c.9685del (p.Cys3229fs)	DMD (C161fs +8 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 2674870	NM_004006.3:c.7099-17240_7125del	DMD	Deletion	Becker muscular dystrophy	GLikely pathogenic
Select item 2674869	NM_004006.3(DMD):c.7855A>T (p.Lys2619Ter)	DMD (K1275* +6 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy	GPathogenic
Select item 2674868	NM_004006.3(DMD):c.3562A>T (p.Lys1188Ter)	DMD (K1065* +3 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy	GPathogenic
Select item 2674867	NM_004006.3(DMD):c.960+1G>A	DMD	Single nucleotide variant (splice donor variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 2674866	NM_004006.3(DMD):c.832-2A>G	DMD	Single nucleotide variant (splice acceptor variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 2674865	NM_004006.3(DMD):c.1603-1G>T	DMD	Single nucleotide variant (splice acceptor variant)	Becker muscular dystrophy	GPathogenic
Select item 2585486	NM_004006.3(DMD):c.607G>C (p.Ala203Pro)	DMD (A199P +3 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy	GUncertain significance
Select item 2580977	NM_004006.3(DMD):c.8800G>C (p.Glu2934Gln)	DMD (E1590Q +7 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy	GUncertain significance
Select item 2578379	NM_004006.3(DMD):c.3276+2T>C	DMD	Single nucleotide variant (splice donor variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 2506532	GRCh37/hg19 Xp21.1(chrX:31950355-32305635)	DMD	Copy number loss	Becker muscular dystrophy	GLikely pathogenic
Select item 2499487	NM_004006.3(DMD):c.6291-13537A>G	DMD	Single nucleotide variant (intron variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 2169639	NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)	DMD (G2093V +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1966748	NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)	DMD (R861fs +5 more)	Microsatellite (frameshift variant +1 more)	Duchenne muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1806443	NM_004006.3(DMD):c.10234del (p.Thr3411_Leu3412insTer)	DMD	Deletion (nonsense +1 more)	Becker muscular dystrophy	GLikely pathogenic
Select item 1806442	NM_004006.3(DMD):c.10232del (p.Thr3411fs)	DMD (T2067fs +8 more)	Deletion (frameshift variant +1 more)	Becker muscular dystrophy	GLikely pathogenic
Select item 1806441	NM_004006.3(DMD):c.9946_9947delinsAT (p.Cys3316Ile)	DMD (C1972I +8 more)	Indel (missense variant)	Becker muscular dystrophy	GUncertain significance
Select item 1806440	NM_004006.3(DMD):c.9973A>G (p.Arg3325Gly)	DMD (R1981G +8 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy	GUncertain significance
Select item 1806439	NM_004006.3(DMD):c.1704+2T>C	DMD	Single nucleotide variant (splice donor variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 1806438	NM_004006.3(DMD):c.689T>G (p.Met230Arg)	DMD (M107R +3 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy	GUncertain significance
Select item 1726854	NM_004006.3(DMD):c.9219T>A (p.Tyr3073Ter)	DMD (Y1729* +7 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1726630	NM_004006.3(DMD):c.9957T>A (p.Cys3319Ter)	DMD (C1975* +8 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1726596	NM_004006.3(DMD):c.4943T>A (p.Leu1648Ter)	DMD (L1525* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1725855	NM_004006.3(DMD):c.3160C>T (p.Gln1054Ter)	DMD (Q1046* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1725751	NM_004006.3(DMD):c.986C>A (p.Ser329Ter)	DMD (S206* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1725526	NM_004006.3(DMD):c.9284T>A (p.Leu3095Ter)	DMD (L1751* +8 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1725520	NM_004006.3(DMD):c.9856A>T (p.Arg3286Ter)	DMD (R1942* +8 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1725516	NM_004006.3(DMD):c.3928G>T (p.Glu1310Ter)	DMD (E1187* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1725491	NM_004006.3(DMD):c.2692A>T (p.Lys898Ter)	DMD (K775* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1725239	NM_004006.3(DMD):c.1840A>T (p.Lys614Ter)	DMD (K491* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1725030	NM_004006.3(DMD):c.5251A>T (p.Lys1751Ter)	DMD (K1628* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1724995	NM_004006.3(DMD):c.9534T>A (p.Cys3178Ter)	DMD (C110* +8 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1724896	NM_004006.3(DMD):c.5548A>T (p.Lys1850Ter)	DMD (K1727* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1724713	NM_004006.3(DMD):c.5767A>T (p.Lys1923Ter)	DMD (K1800* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1724304	NM_004006.3(DMD):c.4715T>A (p.Leu1572Ter)	DMD (L1449* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1724259	NM_004006.3(DMD):c.3184A>T (p.Lys1062Ter)	DMD (K1054* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1724244	NM_004006.3(DMD):c.1346T>A (p.Leu449Ter)	DMD (L326* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1724183	NM_004006.3(DMD):c.5584A>T (p.Lys1862Ter)	DMD (K1739* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1724180	NM_004006.3(DMD):c.2873C>A (p.Ser958Ter)	DMD (S835* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 1709412	NM_004006.3(DMD):c.3327T>A (p.Asn1109Lys)	DMD (N1101K +3 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy	GUncertain significance
Select item 1709351	NM_004006.3(DMD):c.336_337delinsTT (p.Trp112_Asn113delinsCysTyr)	DMD	Indel (missense variant +1 more)	Becker muscular dystrophy	GUncertain significance
Select item 1707522	NM_004006.3:c.(2292+1_2293-1)_(2622+1_2623-1)del	DMD	Deletion	Becker muscular dystrophy	GLikely pathogenic
Select item 1685750	NM_004006.3(DMD):c.261_264+3del	DMD	Deletion (splice donor variant)	Becker muscular dystrophy	GPathogenic
Select item 1685749	NM_004006.3(DMD):c.633dup (p.Leu212fs)	DMD (L204fs +3 more)	Duplication (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685748	NM_004006.3(DMD):c.732_733insCAAT (p.Ile245fs)	DMD (I122fs +3 more)	Insertion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685747	NM_004006.3(DMD):c.1098dup (p.Glu367fs)	DMD (E244fs +3 more)	Duplication (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685746	NM_004006.3(DMD):c.1480A>T (p.Lys494Ter)	DMD (K371* +3 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy	GPathogenic
Select item 1685745	NM_004006.3(DMD):c.1602+2T>A	DMD	Single nucleotide variant (splice donor variant)	Becker muscular dystrophy	GPathogenic
Select item 1685744	NC_000023.11:g.32565874_32565883dup	DMD	Duplication (genic upstream transcript variant)	Becker muscular dystrophy	GPathogenic
Select item 1685743	NM_004006.3(DMD):c.1863T>G (p.Tyr621Ter)	DMD (Y498* +3 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy	GPathogenic
Select item 1685742	NM_004006.3(DMD):c.1941dup (p.Ala648fs)	DMD (A525fs +3 more)	Duplication (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685741	NM_004006.3(DMD):c.2215_2216del (p.Glu739fs)	DMD (E616fs +3 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685740	NM_004006.3(DMD):c.2293-2_2294del	DMD	Deletion (splice acceptor variant)	Becker muscular dystrophy	GPathogenic
Select item 1685739	NM_004006.3(DMD):c.2305G>T (p.Glu769Ter)	DMD (E646* +3 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy	GPathogenic
Select item 1685738	NM_004006.3(DMD):c.2499del (p.Ile833fs)	DMD (I710fs +3 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685737	NM_004006.3(DMD):c.3969_3970insG (p.Arg1324fs)	DMD (R1201fs +3 more)	Insertion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685736	NM_004006.3(DMD):c.4052_4053insCC (p.Trp1351fs)	DMD (W1228fs +3 more)	Insertion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685735	NC_000023.11:g.32390170_32390182del	DMD	Deletion (genic upstream transcript variant)	Becker muscular dystrophy	GPathogenic
Select item 1685734	NM_004006.3(DMD):c.4388_4394dup (p.Asn1466fs)	DMD (N122fs +5 more)	Duplication (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685733	NM_004006.3(DMD):c.4723A>T (p.Lys1575Ter)	DMD (K1452* +5 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy	GPathogenic
Select item 1685731	NM_004006.3(DMD):c.4786A>T (p.Lys1596Ter)	DMD (K1473* +5 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy	GPathogenic
Select item 1685730	NM_004006.3(DMD):c.4872_4873del (p.Lys1625fs)	DMD (K1502fs +5 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685729	NM_004006.3(DMD):c.5078del (p.Lys1693fs)	DMD (K1570fs +5 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685728	NM_004006.3(DMD):c.5131del (p.Gln1711fs)	DMD (Q1588fs +5 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685727	NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs)	DMD (R1719fs +5 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685725	NM_004006.3(DMD):c.6452_6459dup (p.Gln2154fs)	DMD (Q2031fs +5 more)	Duplication (frameshift variant +1 more)	Becker muscular dystrophy	GPathogenic
Select item 1685724	NM_004006.3(DMD):c.6514C>T (p.Gln2172Ter)	DMD (Q2049* +5 more)	Single nucleotide variant (nonsense +1 more)	Becker muscular dystrophy	GPathogenic
Select item 1685723	NM_004006.3(DMD):c.6814G>T (p.Glu2272Ter)	DMD (E2149* +5 more)	Single nucleotide variant (nonsense +1 more)	Becker muscular dystrophy	GPathogenic
Select item 1685722	NM_004006.3(DMD):c.7010T>G (p.Leu2337Ter)	DMD (L2214* +5 more)	Single nucleotide variant (nonsense +1 more)	Becker muscular dystrophy	GPathogenic
Select item 1685721	NM_004006.3(DMD):c.7309+4del	DMD	Deletion (intron variant)	Becker muscular dystrophy	GPathogenic
Select item 1685720	NM_004006.3(DMD):c.7661-2A>C	DMD	Single nucleotide variant (splice acceptor variant)	Becker muscular dystrophy	GPathogenic
Select item 1685719	NM_004006.3(DMD):c.8028-1G>A	DMD	Single nucleotide variant (splice acceptor variant)	Becker muscular dystrophy	GPathogenic
Select item 1685717	NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter)	DMD (K1392* +6 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1685716	NM_004006.3(DMD):c.8313_8316dup (p.Val2773fs)	DMD (V1429fs +7 more)	Duplication (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685715	NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter)	DMD (E1472* +7 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy	GPathogenic
Select item 1685714	NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs)	DMD (I1721fs +7 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685713	NM_004006.3(DMD):c.9283_9284del (p.Leu3095fs)	DMD (L1751fs +8 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685712	NM_004006.3(DMD):c.9281_9286+2del	DMD	Deletion (splice donor variant)	Becker muscular dystrophy	GPathogenic
Select item 1685711	NM_004006.3(DMD):c.9287-1G>A	DMD	Single nucleotide variant (splice acceptor variant)	Becker muscular dystrophy	GPathogenic
Select item 1685709	NM_004006.3(DMD):c.9362-1G>C	DMD	Single nucleotide variant (splice acceptor variant)	Becker muscular dystrophy	GPathogenic
Select item 1685708	NM_004006.3(DMD):c.9487C>T (p.Gln3163Ter)	DMD (Q1819* +8 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy	GPathogenic
Select item 1685707	NM_004006.3(DMD):c.9638_9642del (p.Asp3213fs)	DMD (D145fs +8 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685706	NM_004006.3(DMD):c.9647_9648del (p.Arg3216fs)	DMD (R148fs +8 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685705	NM_004006.3(DMD):c.9767del (p.Gly3256fs)	DMD (G188fs +8 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685704	NM_004006.3(DMD):c.9808-2A>G	DMD	Single nucleotide variant (splice acceptor variant)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 1685703	NM_004006.3(DMD):c.9853dup (p.Met3285fs)	DMD (M1941fs +8 more)	Duplication (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685702	NM_004006.3(DMD):c.9906del (p.Ala3303fs)	DMD (A1959fs +8 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685701	NM_004006.3(DMD):c.9974+2T>C	DMD	Single nucleotide variant (splice donor variant)	Becker muscular dystrophy	GPathogenic
Select item 1685700	NM_004006.3(DMD):c.10223+4A>G	DMD	Single nucleotide variant (intron variant +1 more)	Becker muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1685697	NM_004006.3(DMD):c.10223+5G>C	DMD	Single nucleotide variant (3 prime UTR variant +1 more)	Becker muscular dystrophy	GPathogenic
Select item 1685696	NM_004006.3(DMD):c.10677dup (p.Ala3560fs)	DMD (A1087fs +11 more)	Duplication (frameshift variant)	Becker muscular dystrophy	GPathogenic
Select item 1685299	NM_004006.3(DMD):c.3787-2A>G	DMD	Single nucleotide variant (splice acceptor variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 1679559	Single allele	DMD	Deletion	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 1655969	NM_004006.3(DMD):c.6117+15C>T	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +2 more	GLikely benign
Select item 1643519	NM_004006.3(DMD):c.2381-7T>G	DMD	Single nucleotide variant (intron variant)	Becker muscular dystrophy +2 more	GLikely benign
Select item 1620472	NM_004006.3(DMD):c.11031A>G (p.Gly3677=)	DMD	Single nucleotide variant (synonymous variant +1 more)	Becker muscular dystrophy +2 more	GLikely benign
Select item 1519466	NM_004006.3(DMD):c.10915T>C (p.Ser3639Pro)	DMD (S1069P +11 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 1489579	NM_004006.3(DMD):c.7490G>T (p.Arg2497Met)	DMD (R37M +6 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy +2 more	GConflicting classifications of pathogenicity

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