MED12[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1696

<< First< Prev

Page of 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 669684	NM_005120.2(MED12):c.-487G>A	MED12	Single nucleotide variant	not provided	GBenign
Select item 1214084	NC_000023.11:g.71118452A>G	MED12	Single nucleotide variant	not provided	GLikely benign
Select item 670932	NM_005120.2(MED12):c.-206A>G	MED12	Single nucleotide variant	not provided	GBenign
Select item 384798	NM_005120.3(MED12):c.-47A>T	MED12	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507960	NM_005120.3(MED12):c.-28G>T	MED12	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2632239	NM_005120.3(MED12):c.5C>T (p.Ala2Val)	MED12 (A2V)	Single nucleotide variant (missense variant)	MED12-related disorder	GUncertain significance
Select item 2901186	NM_005120.3(MED12):c.6G>T (p.Ala2=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome +1 more	GLikely benign
Select item 3293965	NM_005120.3(MED12):c.13G>A (p.Gly5Arg)	MED12 (G5R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224566	NM_005120.3(MED12):c.14G>C (p.Gly5Ala)	MED12 (G5A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2804388	NM_005120.3(MED12):c.15G>C (p.Gly5=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 3340806	NM_005120.3(MED12):c.16A>C (p.Ile6Leu)	MED12 (I6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383831	NM_005120.3(MED12):c.27C>T (p.Tyr9=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1718535	NM_005120.3(MED12):c.33C>A (p.His11Gln)	MED12 (H11Q)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GUncertain significance
Select item 1129676	NM_005120.3(MED12):c.33C>T (p.His11=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2443460	NM_005120.3(MED12):c.34C>T (p.Arg12Trp)	MED12 (R12W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919351	NM_005120.3(MED12):c.37C>T (p.Pro13Ser)	MED12 (P13S)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 1742533	NM_005120.3(MED12):c.46C>A (p.Arg16=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome +1 more	GLikely benign
Select item 2972184	NM_005120.3(MED12):c.60G>A (p.Gly20=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 1009749	NM_005120.3(MED12):c.66C>A (p.Pro22=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GUncertain significance
Select item 1313993	NM_005120.3(MED12):c.70G>T (p.Val24Phe)	MED12 (V24F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1018854	NM_005120.3(MED12):c.70G>A (p.Val24Ile)	MED12 (V24I)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 3367888	NM_005120.3(MED12):c.73T>C (p.Tyr25His)	MED12 (Y25H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 864670	NM_005120.3(MED12):c.76C>G (p.Pro26Ala)	MED12 (P26A)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 3058088	NM_005120.3(MED12):c.78T>C (p.Pro26=)	MED12	Single nucleotide variant (synonymous variant)	MED12-related disorder	GLikely benign
Select item 2708290	NM_005120.3(MED12):c.82G>A (p.Asp28Asn)	MED12 (D28N)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1218735	NM_005120.3(MED12):c.85C>A (p.Pro29Thr)	MED12 (P29T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1441611	NM_005120.3(MED12):c.89A>G (p.Lys30Arg)	MED12 (K30R)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 384545	NM_005120.3(MED12):c.93G>C (p.Gln31His)	MED12 (Q31H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1625341	NM_005120.3(MED12):c.96G>A (p.Lys32=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2696252	NM_005120.3(MED12):c.99G>A (p.Glu33=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GUncertain significance
Select item 1967626	NM_005120.3(MED12):c.99+9G>A	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 1265813	NM_005120.3(MED12):c.100-64A>G	MED12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381897	NM_005120.3(MED12):c.100-19C>T	MED12	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2884523	NM_005120.3(MED12):c.100-15G>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 2034948	NM_005120.3(MED12):c.100-15_100-14delinsTT	MED12	Indel (intron variant)	FG syndrome	GUncertain significance
Select item 1548915	NM_005120.3(MED12):c.100-15_100-14delinsAA	MED12	Indel (intron variant)	FG syndrome	GLikely benign
Select item 2031672	NM_005120.3(MED12):c.100-11T>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 3022003	NM_005120.3(MED12):c.100-10C>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 92199	NM_005120.3(MED12):c.100-8T>A	MED12	Single nucleotide variant (intron variant)	Uterine leiomyoma	Gnot provided
Select item 1942459	NM_005120.3(MED12):c.100-2A>T	MED12	Single nucleotide variant (splice acceptor variant)	FG syndrome	GLikely pathogenic
Select item 92197	NM_005120.3(MED12):c.100-1_139del	MED12	Deletion (splice acceptor variant)	Uterine leiomyoma	Gnot provided
Select item 92198	NM_005120.3(MED12):c.100_141del (p.Asp34_Asn47del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 3337274	NM_005120.3(MED12):c.101A>G (p.Asp34Gly)	MED12 (D34G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92200	NM_005120.3(MED12):c.103_138del (p.Glu35_Asn46del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 1484916	NM_005120.3(MED12):c.106C>A (p.Leu36Met)	MED12 (L36M)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 92202	NM_005120.3(MED12):c.107_111delinsGC (p.Leu36_Thr37delinsArg)	MED12	Indel (inframe_indel)	Uterine leiomyoma	Gnot provided
Select item 92201	NM_005120.3(MED12):c.107T>G (p.Leu36Arg)	MED12 (L36R)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 92203	NM_005120.3(MED12):c.111_155del (p.Ala38_Ser52del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 386340	NM_005120.3(MED12):c.111G>A (p.Thr37=)	MED12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 92204	NM_005120.3(MED12):c.113_121del (p.Ala38_Asn40del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92205	NM_005120.3(MED12):c.117_122del (p.Asn40_Val41del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92208	NM_005120.3(MED12):c.118_146delinsTT (p.Asn40_Pro49delinsPhe)	MED12	Indel (inframe_indel)	Uterine leiomyoma	Gnot provided
Select item 92207	NM_005120.3(MED12):c.118_134delinsTA (p.Asn40_Phe45delinsTyr)	MED12	Indel (inframe_indel)	Uterine leiomyoma	Gnot provided
Select item 92206	NM_005120.3(MED12):c.118_132del (p.Asn40_Gly44del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92210	NM_005120.3(MED12):c.122_163del (p.Val41_Asp54del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 3224565	NM_005120.3(MED12):c.120T>C (p.Asn40=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 92211	NM_005120.3(MED12):c.123_152del (p.Lys42_Val51del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92209	NM_005120.3(MED12):c.122_148del (p.Val41_Pro49del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92213	NM_005120.3(MED12):c.126_140del (p.Lys42_Asn46del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92212	NM_005120.3(MED12):c.126_131del (p.Lys42_Gly44delinsAsn)	MED12	Deletion (inframe_indel)	Uterine leiomyoma	Gnot provided
Select item 92216	NM_005120.3(MED12):c.129_143del (p.Gly44_Gln48del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92215	NM_005120.3(MED12):c.129_137del (p.Gln43_Asn46delinsHis)	MED12	Deletion (inframe_indel)	Uterine leiomyoma	Gnot provided
Select item 92214	NM_005120.3(MED12):c.128A>C (p.Gln43Pro)	MED12 (Q43P)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 509268	NM_005120.3(MED12):c.129A>G (p.Gln43=)	MED12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 92219	NM_005120.3(MED12):c.130G>T (p.Gly44Cys)	MED12 (G44C)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 92218	NM_005120.3(MED12):c.130G>C (p.Gly44Arg)	MED12 (G44R)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 92217	NM_005120.3(MED12):c.130G>A (p.Gly44Ser)	MED12 (G44S)	Single nucleotide variant (missense variant)	Angiosarcoma	Gother
Select item 92222	NM_005120.3(MED12):c.131G>T (p.Gly44Val)	MED12 (G44V)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 92221	NM_005120.3(MED12):c.131G>C (p.Gly44Ala)	MED12 (G44A)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 92220	NM_005120.3(MED12):c.131G>A (p.Gly44Asp)	MED12 (G44D)	Single nucleotide variant (missense variant)	Nephroblastoma	Gother
Select item 2836031	NM_005120.3(MED12):c.133_138del (p.Phe45_Asn46del)	MED12	Deletion (inframe_deletion)	FG syndrome	GUncertain significance
Select item 1699840	NM_005120.3(MED12):c.133T>G (p.Phe45Val)	MED12 (F45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92223	NM_005120.3(MED12):c.133_144del (p.Phe45_Gln48del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 1659808	NM_005120.3(MED12):c.135C>T (p.Phe45=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2122011	NM_005120.3(MED12):c.137A>G (p.Asn46Ser)	MED12 (N46S)	Single nucleotide variant (missense variant)	FG syndrome	GLikely benign
Select item 1771243	NM_005120.3(MED12):c.137A>C (p.Asn46Thr)	MED12 (N46T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2816427	NM_005120.3(MED12):c.144G>A (p.Gln48=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2292015	NM_005120.3(MED12):c.144G>T (p.Gln48His)	MED12 (Q48H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 696749	NM_005120.3(MED12):c.147T>A (p.Pro49=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 92224	NM_005120.3(MED12):c.149_163del (p.Ala50_Asp54del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 1961142	NM_005120.3(MED12):c.153C>T (p.Val51=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 1778707	NM_005120.3(MED12):c.171C>T (p.Gly57=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 516188	NM_005120.3(MED12):c.183C>T (p.Asn61=)	MED12	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 519902	NM_005120.3(MED12):c.184G>A (p.Val62Ile)	MED12 (V62I)	Single nucleotide variant (missense variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome +2 more	GUncertain significance
Select item 3224570	NM_005120.3(MED12):c.188G>C (p.Ser63Thr)	MED12 (S63T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1146788	NM_005120.3(MED12):c.201C>G (p.Ala67=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1307676	NM_005120.3(MED12):c.204+5G>C	MED12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1123878	NM_005120.3(MED12):c.204+7C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2890740	NM_005120.3(MED12):c.204+9A>C	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2040050	NM_005120.3(MED12):c.204+9A>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 213613	NM_005120.3(MED12):c.204+12_204+13del	MED12	Microsatellite (intron variant)	FG syndrome +1 more	GBenign
Select item 2772143	NM_005120.3(MED12):c.204+12C>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 386084	NM_005120.3(MED12):c.204+13T>G	MED12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709116	NM_005120.3(MED12):c.204+14G>C	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 1220138	NM_005120.3(MED12):c.204+25G>T	MED12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291515	NM_005120.3(MED12):c.204+58G>C	MED12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259633	NM_005120.3(MED12):c.205-38C>T	MED12	Single nucleotide variant (intron variant)	Blepharophimosis - intellectual disability syndrome, MKB type +4 more	GBenign/Likely benign
Select item 1559764	NM_005120.3(MED12):c.205-20G>A	MED12	Single nucleotide variant (intron variant)	FG syndrome	GBenign
Select item 2731916	NM_005120.3(MED12):c.205-17C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2987436	NM_005120.3(MED12):c.205-11T>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance

<< First< Prev

Page of 17