ClinVar for MedGen (Select 1768809) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362773	NM_005120.3(MED12):c.862G>T (p.Val288Phe)	MED12 (V288F)	Single nucleotide variant (missense variant)	FG syndrome 1	GUncertain significance
Select item 3233403	NM_005120.3(MED12):c.4448C>T (p.Ser1483Leu)	MED12 (S1483L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3064428	NM_005120.3(MED12):c.4069C>T (p.Arg1357Cys)	MED12 (R1357C)	Single nucleotide variant (missense variant)	FG syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2887229	NM_005120.3(MED12):c.4829A>G (p.Lys1610Arg)	MED12 (K1610R)	Single nucleotide variant (missense variant)	FG syndrome 1 +1 more	GUncertain significance
Select item 2576549	NM_005120.3(MED12):c.4863+1G>A	MED12	Single nucleotide variant (splice donor variant)	FG syndrome 1	GLikely pathogenic
Select item 2499563	NM_005120.3(MED12):c.4439C>T (p.Pro1480Leu)	MED12 (P1480L)	Single nucleotide variant (missense variant)	FG syndrome 1	GLikely pathogenic
Select item 2444269	NM_005120.3(MED12):c.886C>T (p.Arg296Trp)	MED12 (R296W)	Single nucleotide variant (missense variant)	FG syndrome 1	GUncertain significance
Select item 2441931	NM_005120.3(MED12):c.6211del (p.Gln2071fs)	MED12 (Q2071fs)	Deletion (frameshift variant)	MED12-related disorder +1 more	GLikely pathogenic
Select item 2425300	NC_000023.10:g.(?_70348944)_(70350084_?)dup	MED12	Duplication	FG syndrome 1 +1 more	GUncertain significance
Select item 2425299	NC_000023.10:g.(?_69748945)_(70644108_?)dup	CXorf65, FOXO4 +11 more	Duplication	FG syndrome 1	GUncertain significance
Select item 2425298	NC_000023.10:g.(?_70337406)_(70363304_?)del	MED12	Deletion	FG syndrome 1 +1 more	GPathogenic
Select item 2199055	NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)	MED12 (R1341Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus +6 more	GUncertain significance
Select item 1737328	NM_005120.3(MED12):c.4048-3C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome 1 +1 more	GUncertain significance
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 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)	FG syndrome +4 more	GBenign/Likely benign
Select item 1447595	NC_000023.10:g.(?_70338585)_(70362088_?)dup	MED12	Duplication	FG syndrome 1	GUncertain significance
Select item 1411668	NM_005120.3(MED12):c.6186G>C (p.Gln2062His)	MED12 (Q2062H)	Single nucleotide variant (missense variant)	FG syndrome 1 +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 1319901	NM_005120.3(MED12):c.439G>A (p.Ala147Thr)	MED12 (A147T)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus +6 more	GConflicting classifications of pathogenicity
Select item 1210257	NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter)	MED12 (Q2150*)	Single nucleotide variant (nonsense)	Blepharophimosis - intellectual disability syndrome, MKB type	GLikely pathogenic
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 1210250	NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter)	MED12 (Y1874*)	Single nucleotide variant (nonsense)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic
Select item 1210249	NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter)	MED12 (W1704*)	Single nucleotide variant (nonsense)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic
Select item 1210248	NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs)	MED12 (V1635fs)	Indel (frameshift variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic
Select item 1210247	NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln)	MED12 (R1467Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210246	NM_005120.3(MED12):c.4070G>A (p.Arg1357His)	MED12 (R1357H)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GPathogenic
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 1210242	NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	MED12 (R1138W)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type +3 more	GPathogenic/Likely pathogenic
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 1210238	NM_005120.3(MED12):c.2735C>T (p.Ser912Leu)	MED12 (S912L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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)	Blepharophimosis - intellectual disability syndrome, MKB type	GLikely pathogenic
Select item 1210235	NM_005120.3(MED12):c.2663dup (p.Leu889fs)	MED12 (L889fs)	Duplication (frameshift variant)	FG syndrome 1	Gnot provided
Select item 1210234	NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)	MED12 (I771T)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GUncertain significance
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)	not provided	GPathogenic
Select item 1210231	NM_005120.3(MED12):c.514G>C (p.Glu172Gln)	MED12 (E172Q)	Single nucleotide variant (missense variant)	MED12-related intellectual disability syndrome	GPathogenic
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 1201510	NM_005120.3(MED12):c.3646G>A (p.Val1216Met)	MED12 (V1216M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1064569	NM_005120.3(MED12):c.4382C>T (p.Ser1461Leu)	MED12 (S1461L)	Single nucleotide variant (missense variant)	FG syndrome 1	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 1015398	NC_000023.10:g.(?_70348958)_(70350070_?)dup	MED12	Duplication	FG syndrome 1	GUncertain significance
Select item 1007633	NC_000023.10:g.(?_70338585)_(70362088_?)del	MED12	Deletion	FG syndrome 1	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 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 971930	NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu)	MED12 (Y2177L)	Indel (missense variant)	FG syndrome 1	GUncertain significance
Select item 941518	NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup)	MED12	Microsatellite (inframe_insertion)	FG syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 939333	NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser)	MED12 (G1920S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931587	NM_005120.3(MED12):c.1996A>G (p.Met666Val)	MED12 (M666V)	Single nucleotide variant (missense variant)	FG syndrome +5 more	GConflicting classifications of pathogenicity
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 832748	NC_000023.11:g.(?_71118745)_(71224569_?)dup	GJB1, MED12 +1 more	Duplication	FG syndrome 1	GUncertain significance
Select item 831551	NC_000023.11:g.(?_71118745)_(71142228_?)dup	MED12	Duplication	FG syndrome 1	GUncertain significance
Select item 804026	NM_005120.3(MED12):c.4416-77CTCTT[14]	MED12	Microsatellite (intron variant)	FG syndrome 1 +1 more	GBenign
Select item 804025	NM_005120.3(MED12):c.224G>C (p.Ser75Thr)	MED12 (S75T)	Single nucleotide variant (missense variant)	FG syndrome 1	GLikely pathogenic
Select item 797200	NM_005120.3(MED12):c.1662C>T (p.Ala554=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1 +1 more	GLikely benign
Select item 765331	NM_005120.3(MED12):c.2395C>T (p.Leu799=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 758940	NM_005120.3(MED12):c.6465C>T (p.Val2155=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 754490	NM_005120.3(MED12):c.5754T>C (p.Ser1918=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 749409	NM_005120.3(MED12):c.1545G>A (p.Lys515=)	MED12, LOC126863275	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 734696	NM_005120.3(MED12):c.5862G>A (p.Gln1954=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 704919	NM_005120.3(MED12):c.2413A>C (p.Thr805Pro)	MED12 (T805P)	Single nucleotide variant (missense variant)	FG syndrome 1	GBenign
Select item 701339	NM_005120.3(MED12):c.5124C>A (p.Val1708=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 701067	NM_005120.3(MED12):c.5301C>G (p.Pro1767=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 700395	NM_005120.3(MED12):c.1923C>G (p.Ala641=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 700357	NM_005120.3(MED12):c.2937C>T (p.Tyr979=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 699254	NM_005120.3(MED12):c.1170C>T (p.Thr390=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GBenign
Select item 696294	NM_005120.3(MED12):c.2670C>T (p.Ile890=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 695787	NM_005120.3(MED12):c.2286G>A (p.Lys762=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 666337	NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)	MED12 (A1169S)	Single nucleotide variant (missense variant)	FG syndrome 1 +1 more	GLikely pathogenic
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 619013	NM_005120.3(MED12):c.1546C>T (p.Arg516Cys)	LOC126863275, MED12 (R516C)	Single nucleotide variant (missense variant)	FG syndrome 1	GLikely pathogenic
Select item 589282	NM_005120.3(MED12):c.4832G>A (p.Arg1611His)	MED12 (R1611H)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
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 528486	NM_005120.3(MED12):c.5655C>T (p.Val1885=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 522111	NM_005120.3(MED12):c.887G>A (p.Arg296Gln)	MED12 (R296Q)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type +4 more	GPathogenic/Likely pathogenic
Select item 521365	NM_005120.3(MED12):c.3884G>A (p.Arg1295His)	MED12 (R1295H)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GPathogenic/Likely pathogenic
Select item 516358	NM_005120.3(MED12):c.5490A>C (p.Thr1830=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1 +2 more	GBenign/Likely benign
Select item 515584	NM_005120.3(MED12):c.4864-6C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 458812	NM_005120.3(MED12):c.1332C>T (p.Cys444=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 452540	NM_005120.3(MED12):c.1547G>A (p.Arg516His)	LOC126863275, MED12 (R516H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 427070	NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)	MED12 (Q2159P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 426211	NM_005120.3(MED12):c.4880G>A (p.Arg1627His)	MED12 (R1627H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 417448	NC_000023.10:g.(?_70348964)_(70350064_?)dup	MED12	Duplication	FG syndrome 1	GUncertain significance
Select item 415268	NM_005120.3(MED12):c.3849G>T (p.Leu1283=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign
Select item 415265	NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)	MED12 (Q2076del)	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GLikely benign
Select item 415264	NM_005120.3(MED12):c.2169G>A (p.Gly723=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome 1	GLikely benign

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