Related gene-specific medical variations for Gene (Select 9968) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3224569	NM_005120.3(MED12):c.1683C>G (p.Pro561=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224568	NM_005120.3(MED12):c.1647G>A (p.Glu549=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224567	NM_005120.3(MED12):c.1509G>T (p.Val503=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3064428	NM_005120.3(MED12):c.4069C>T (p.Arg1357Cys)	MED12 (R1357C)	Single nucleotide variant (missense variant)	FG syndrome 1	GUncertain significance
Select item 3062316	NM_005120.3(MED12):c.6175C>T (p.Gln2059Ter)	MED12 (Q2059*)	Single nucleotide variant (nonsense)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GLikely pathogenic
Select item 3035567	NM_005120.3(MED12):c.1702G>T (p.Asp568Tyr)	LOC126863275, MED12 (D568Y)	Single nucleotide variant (missense variant)	MED12-related disorder	GUncertain significance
Select item 3020204	NM_005120.3(MED12):c.1485+11A>G	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 3015653	NM_005120.3(MED12):c.1438C>G (p.Leu480Val)	LOC126863275, MED12 (L480V)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 3012200	NM_005120.3(MED12):c.1617+16T>A	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2920685	NM_005120.3(MED12):c.1836_1842dup (p.Thr615fs)	MED12 (T615fs)	Duplication (frameshift variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic
Select item 2881245	NM_005120.3(MED12):c.1374T>C (p.His458=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2858001	NM_005120.3(MED12):c.1744+6G>A	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 2849392	NM_005120.3(MED12):c.1312C>T (p.Arg438Cys)	LOC126863275, MED12 (R438C)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2782963	NM_005120.3(MED12):c.1612G>T (p.Ala538Ser)	LOC126863275, MED12 (A538S)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2769620	NM_005120.3(MED12):c.1409G>A (p.Arg470His)	LOC126863275, MED12 (R470H)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2759531	NM_005120.3(MED12):c.1704T>A (p.Asp568Glu)	LOC126863275, MED12 (D568E)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2739683	NM_005120.3(MED12):c.1744+10C>T	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2739360	NM_005120.3(MED12):c.1614T>C (p.Ala538=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2710494	NM_005120.3(MED12):c.1486-14C>T	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2707972	NM_005120.3(MED12):c.1434C>G (p.Asp478Glu)	LOC126863275, MED12 (D478E)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2695508	NM_005120.3(MED12):c.1485+20G>C	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2673241	NM_005120.3(MED12):c.1488CTC[1] (p.Ser498del)	LOC126863275, MED12 (S498del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2660841	NM_005120.3(MED12):c.1618-3C>T	LOC126863275, MED12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2584656	NM_005120.3(MED12):c.5165G>A (p.Arg1722Gln)	MED12 (R1722Q)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GUncertain significance
Select item 2580896	NM_005120.3(MED12):c.1810A>T (p.Ile604Phe)	MED12 (I604F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572292	NM_005120.3(MED12):c.1359T>C (p.Ile453=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2450598	NM_005120.3(MED12):c.1504G>A (p.Ala502Thr)	LOC126863275, MED12 (A502T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2433692	NM_005120.3(MED12):c.6238C>T (p.Arg2080Trp)	MED12 (R2080W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433691	NM_005120.3(MED12):c.1348+1G>T	LOC126863275, MED12	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2433690	NM_005120.3(MED12):c.3251A>C (p.Tyr1084Ser)	MED12 (Y1084S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159423	NM_005120.3(MED12):c.1448G>A (p.Arg483Gln)	LOC126863275, MED12 (R483Q)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2121773	NM_005120.3(MED12):c.1622G>A (p.Cys541Tyr)	LOC126863275, MED12 (C541Y)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2096092	NM_005120.3(MED12):c.1425C>T (p.Asn475=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2075636	NM_005120.3(MED12):c.1639G>T (p.Ala547Ser)	LOC126863275, MED12 (A547S)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2039999	NM_005120.3(MED12):c.1636G>C (p.Ala546Pro)	LOC126863275, MED12 (A546P)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2035055	NM_005120.3(MED12):c.1617+8G>T	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 1985350	NM_005120.3(MED12):c.1486-4C>A	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 1985218	NM_005120.3(MED12):c.1314C>T (p.Arg438=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 1934915	NM_005120.3(MED12):c.1486-13C>T	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 1905276	NM_005120.3(MED12):c.1640C>T (p.Ala547Val)	LOC126863275, MED12 (A547V)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 1803908	NM_005120.3(MED12):c.1737del (p.Met580fs)	LOC126863275, MED12 (M580fs)	Deletion (frameshift variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GLikely pathogenic
Select item 1803501	NM_005120.3(MED12):c.1349-7T>G	LOC126863275, MED12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1776964	NM_005120.3(MED12):c.1638C>T (p.Ala546=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1775711	NM_005120.3(MED12):c.1581G>A (p.Lys527=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1722321	NM_005120.3(MED12):c.728T>C (p.Met243Thr)	MED12 (M243T)	Single nucleotide variant (missense variant)	FG syndrome 1	GUncertain significance
Select item 1714365	NM_005120.3(MED12):c.1300G>C (p.Ala434Pro)	LOC126863275, MED12 (A434P)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 1712759	NM_005120.3(MED12):c.1339G>T (p.Ala447Ser)	LOC126863275, MED12 (A447S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708652	NM_005120.3(MED12):c.1684A>G (p.Ser562Gly)	LOC126863275, MED12 (S562G)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1700171	NM_005120.3(MED12):c.4465C>G (p.Leu1489Val)	MED12 (L1489V)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696529	NM_005120.3(MED12):c.4413G>A (p.Lys1471=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1 +2 more	GUncertain significance
Select item 1691211	NM_005120.3(MED12):c.1328A>G (p.Lys443Arg)	LOC126863275, MED12 (K443R)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GUncertain significance
Select item 1650172	NM_005120.3(MED12):c.1513T>A (p.Ser505Thr)	LOC126863275, MED12 (S505T)	Single nucleotide variant (missense variant)	FG syndrome	GLikely benign
Select item 1628725	NM_005120.3(MED12):c.1485+7G>A	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 1609968	NM_005120.3(MED12):c.1348+14A>C	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 1589963	NM_005120.3(MED12):c.1554T>A (p.Gly518=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 1585956	NM_005120.3(MED12):c.1738A>G (p.Met580Val)	LOC126863275, MED12 (M580V)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GLikely benign
Select item 1583367	NM_005120.3(MED12):c.1486-8T>C	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 1531133	NM_005120.3(MED12):c.1485+14G>A	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 1526812	GRCh37/hg19 Xq13.1(chrX:70344802-70345036)	MED12	Copy number loss	not specified	GUncertain significance
Select item 1337044	NM_005120.3(MED12):c.1363C>T (p.Arg455Trp)	LOC126863275, MED12 (R455W)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GUncertain significance
Select item 1324712	NM_005120.3(MED12):c.1861C>T (p.Arg621Ter)	MED12 (R621*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1310149	NM_005120.3(MED12):c.1556G>A (p.Arg519Gln)	LOC126863275, MED12 (R519Q)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1308385	NM_005120.3(MED12):c.1565C>G (p.Ala522Gly)	LOC126863275, MED12 (A522G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1306318	NM_005120.3(MED12):c.1631C>T (p.Ser544Leu)	LOC126863275, MED12 (S544L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303953	NM_005120.3(MED12):c.1295G>A (p.Gly432Glu)	LOC126863275, MED12 (G432E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303363	NM_005120.3(MED12):c.1617+5G>T	LOC126863275, MED12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1269864	NM_005120.3(MED12):c.1618-12G>A	LOC126863275, MED12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260742	NM_005120.3(MED12):c.1618-18_1618-15del	LOC126863275, MED12	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1218013	NM_005120.3(MED12):c.1720C>A (p.Leu574Met)	LOC126863275, MED12 (L574M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210257	NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter)	MED12 (Q2150*)	Single nucleotide variant (nonsense)	FG syndrome 1	Gnot provided
Select item 1210256	NM_005120.3(MED12):c.6280C>T (p.Gln2094Ter)	MED12 (Q2094*)	Single nucleotide variant (nonsense)	FG syndrome 1	Gnot provided
Select item 1210255	NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter)	MED12 (Q2090*)	Single nucleotide variant (nonsense)	FG syndrome 1	Gnot provided
Select item 1210254	NM_005120.3(MED12):c.6241CAG[3] (p.Gln2084_Gln2086del)	MED12	Microsatellite (inframe_deletion)	FG syndrome 1	Gnot provided
Select item 1210253	NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter)	MED12 (Y2077*)	Single nucleotide variant (nonsense)	FG syndrome 1	Gnot provided
Select item 1210252	NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter)	MED12 (Q2057*)	Single nucleotide variant (nonsense)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic
Select item 1210251	NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter)	MED12 (Y1973*)	Single nucleotide variant (nonsense)	FG syndrome 1	Gnot provided
Select item 1210245	NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser)	MED12 (L1312S)	Single nucleotide variant (missense variant)	FG syndrome 1	Gnot provided
Select item 1210244	NM_005120.3(MED12):c.3932T>A (p.Val1311Glu)	MED12 (V1311E)	Single nucleotide variant (missense variant)	FG syndrome 1	Gnot provided
Select item 1210243	NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu)	MED12 (G1218E)	Single nucleotide variant (missense variant)	FG syndrome 1	Gnot provided
Select item 1210241	NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys)	MED12 (E1091K)	Single nucleotide variant (missense variant)	FG syndrome 1	Gnot provided
Select item 1210240	NM_005120.3(MED12):c.2861T>G (p.Val954Gly)	MED12 (V954G)	Single nucleotide variant (missense variant)	FG syndrome 1	Gnot provided
Select item 1210239	NM_005120.3(MED12):c.2786T>A (p.Val929Asp)	MED12 (V929D)	Single nucleotide variant (missense variant)	FG syndrome 1	Gnot provided
Select item 1210237	NM_005120.3(MED12):c.2692A>G (p.Asn898Asp)	MED12 (N898D)	Single nucleotide variant (missense variant)	FG syndrome 1	Gnot provided
Select item 1210236	NM_005120.3(MED12):c.2669T>A (p.Ile890Asn)	MED12 (I890N)	Single nucleotide variant (missense variant)	FG syndrome 1	Gnot provided
Select item 1210235	NM_005120.3(MED12):c.2663dup (p.Leu889fs)	MED12 (L889fs)	Duplication (frameshift variant)	FG syndrome 1	Gnot provided
Select item 1210233	NM_005120.3(MED12):c.2207_2210del (p.Thr736fs)	MED12 (T736fs)	Deletion (frameshift variant)	FG syndrome 1	Gnot provided
Select item 1210232	NM_005120.3(MED12):c.1249-1G>C	MED12	Single nucleotide variant (splice acceptor variant)	FG syndrome 1	Gnot provided
Select item 1210230	NM_005120.3(MED12):c.322C>T (p.Arg108Ter)	MED12 (R108*)	Single nucleotide variant (nonsense)	FG syndrome 1	Gnot provided
Select item 1208580	NM_005120.3(MED12):c.1617+24C>T	LOC126863275, MED12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201767	NM_005120.3(MED12):c.1485+3A>G	LOC126863275, MED12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183259	NM_005120.3(MED12):c.1617+117A>G	LOC126863275, MED12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1155511	NM_005120.3(MED12):c.1536C>T (p.Val512=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 1146211	NM_005120.3(MED12):c.1377T>A (p.Thr459=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1098332	NM_005120.3(MED12):c.1379T>C (p.Leu460Ser)	LOC126863275, MED12 (L460S)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1056924	NM_005120.3(MED12):c.1633G>C (p.Glu545Gln)	LOC126863275, MED12 (E545Q)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 1040414	NM_005120.3(MED12):c.1666G>A (p.Gly556Ser)	LOC126863275, MED12 (G556S)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 1007087	NM_005120.3(MED12):c.1432G>A (p.Asp478Asn)	LOC126863275, MED12 (D478N)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GUncertain significance
Select item 983040	NM_005120.3(MED12):c.1439T>C (p.Leu480Pro)	LOC126863275, MED12 (L480P)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus	GUncertain significance
Select item 975432	NM_005120.3(MED12):c.4685T>G (p.Leu1562Arg)	MED12 (L1562R)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 975296	NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg)	MED12 (Q2136R)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GLikely pathogenic

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