ClinVar for MedGen (Select 167096) - ClinVar

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

Links from MedGen

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2903386	NM_005120.3(MED12):c.6128G>A (p.Arg2043His)	MED12 (R2043H)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus +1 more	GConflicting classifications of pathogenicity
Select item 2572021	NM_005120.3(MED12):c.6328C>G (p.Gln2110Glu)	MED12 (Q2110E)	Single nucleotide variant (missense variant)	MED12-related intellectual disability syndrome +2 more	Gnot provided
Select item 2199055	NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)	MED12 (R1341Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GUncertain significance
Select item 1805137	NM_005120.3(MED12):c.949T>C (p.Ser317Pro)	MED12 (S317P)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus	GLikely benign
Select item 1804009	NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)	MED12 (S849F)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus	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 1536383	NM_005120.3(MED12):c.1974+15C>T	MED12	Single nucleotide variant (intron variant)	X-linked intellectual disability with marfanoid habitus +4 more	GBenign/Likely benign
Select item 1526230	NM_005120.3(MED12):c.1746G>A (p.Thr582=)	MED12	Single nucleotide variant (synonymous variant)	X-linked intellectual disability with marfanoid habitus +1 more	GUncertain significance
Select item 1360673	NM_005120.3(MED12):c.6076A>G (p.Met2026Val)	MED12 (M2026V)	Single nucleotide variant (missense variant)	FG syndrome +4 more	GUncertain significance
Select item 1333933	NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser)	MED12 (T1945S)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GUncertain significance
Select item 1319901	NM_005120.3(MED12):c.439G>A (p.Ala147Thr)	MED12 (A147T)	Single nucleotide variant (missense variant)	FG syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1028860	NM_005120.3(MED12):c.6408+1G>A	MED12	Single nucleotide variant (splice donor variant)	MED12-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1028859	NM_005120.3(MED12):c.3692-7A>G	MED12	Single nucleotide variant (intron variant)	X-linked intellectual disability with marfanoid habitus +1 more	GUncertain significance
Select item 1028858	NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys)	MED12 (R1205C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1019021	NM_005120.3(MED12):c.617G>A (p.Arg206Gln)	MED12 (R206Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus +2 more	GUncertain significance
Select item 983040	NM_005120.3(MED12):c.1439T>C (p.Leu480Pro)	LOC126863275, MED12 (L480P)	Single nucleotide variant (missense variant)	FG syndrome 1 +1 more	GUncertain significance
Select item 983038	NM_005120.3(MED12):c.2663G>C (p.Gly888Ala)	MED12 (G888A)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus	GUncertain significance
Select item 976133	NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys)	MED12 (R1214C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 973226	NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)	MED12 (Q1316E)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus +3 more	GUncertain significance
Select item 938946	NM_005120.3(MED12):c.2549G>A (p.Arg850Gln)	MED12 (R850Q)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GUncertain significance
Select item 931587	NM_005120.3(MED12):c.1996A>G (p.Met666Val)	MED12 (M666V)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus +5 more	GConflicting classifications of pathogenicity
Select item 931359	NM_005120.3(MED12):c.2982-20C>T	MED12	Single nucleotide variant (intron variant)	X-linked intellectual disability with marfanoid habitus +1 more	GLikely benign
Select item 930328	NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln)	MED12 (E1248Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus	GUncertain significance
Select item 857059	NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)	LOC126863275, MED12 (T459I)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 620067	NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)	MED12 (K1674del)	Microsatellite (inframe_deletion)	FG syndrome 1 +2 more	GUncertain significance
Select item 619996	NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)	MED12 (L675F)	Single nucleotide variant (missense variant)	FG syndrome 1 +4 more	GUncertain significance
Select item 560275	NM_005120.3(MED12):c.628G>C (p.Ala210Pro)	MED12 (A210P)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus +3 more	GUncertain significance
Select item 546370	NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)	MED12 (I1387V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GUncertain significance
Select item 458822	NM_005120.3(MED12):c.616C>G (p.Arg206Gly)	MED12 (R206G)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 431098	NM_005120.3(MED12):c.2545T>C (p.Ser849Pro)	MED12 (S849P)	Single nucleotide variant (missense variant)	FG syndrome 1 +2 more	GUncertain significance
Select item 415265	NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)	MED12 (Q2076del)	Microsatellite (inframe_deletion)	Cholestasis-pigmentary retinopathy-cleft palate syndrome +5 more	GLikely benign
Select item 391402	NM_005120.3(MED12):c.5805C>T (p.Ser1935=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 387164	NM_005120.3(MED12):c.3942T>C (p.Ser1314=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 378127	NM_005120.3(MED12):c.384A>G (p.Gln128=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome +6 more	GBenign/Likely benign
Select item 259637	NM_005120.3(MED12):c.4415+29T>C	MED12	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 259636	NM_005120.3(MED12):c.3354+27G>C	MED12	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 259634	NM_005120.3(MED12):c.2422+30C>T	MED12	Single nucleotide variant (intron variant)	Blepharophimosis - intellectual disability syndrome, MKB type +4 more	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 213641	NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)	MED12 (R1341W)	Single nucleotide variant (missense variant)	FG syndrome +3 more	GUncertain significance
Select item 213640	NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)	MED12 (R1295C)	Single nucleotide variant (missense variant)	FG syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 213633	NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)	MED12 (T617A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 213632	NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)	MED12 (R422W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 213631	NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)	MED12 (S347G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 213627	NM_005120.3(MED12):c.6097A>G (p.Met2033Val)	MED12 (M2033V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 213624	NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)	MED12 (A1383T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 134636	NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)	MED12 (P1371S)	Single nucleotide variant (missense variant)	not provided +6 more	GLikely benign
Select item 129589	NM_005120.3(MED12):c.934G>C (p.Val312Leu)	MED12 (V312L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 95257	NM_005120.3(MED12):c.736-8A>C	MED12	Single nucleotide variant (intron variant)	X-linked intellectual disability with marfanoid habitus +5 more	GBenign
Select item 95248	NM_005120.3(MED12):c.3930A>C (p.Pro1310=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1 +6 more	GBenign
Select item 95246	NM_005120.3(MED12):c.2849+14C>T	MED12	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 11521	NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)	MED12 (N1007S)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus	GLikely pathogenic
Select item 11520	NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	MED12 (R961W)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type +6 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 52