C5399762[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1210232	NM_005120.3(MED12):c.1249-1G>C	MED12	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 225253	NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)	MED12 (R621Q)	Single nucleotide variant (missense variant)	FG syndrome 1	GLikely pathogenic
Select item 1210233	NM_005120.3(MED12):c.2207_2210del (p.Thr736fs)	MED12 (T736fs)	Deletion (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 252962	NM_005120.3(MED12):c.2444G>A (p.Arg815Gln)	MED12 (R815Q)	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 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 1210237	NM_005120.3(MED12):c.2692A>G (p.Asn898Asp)	MED12 (N898D)	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 1210239	NM_005120.3(MED12):c.2786T>A (p.Val929Asp)	MED12 (V929D)	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 65683	NM_005120.3(MED12):c.2873G>A (p.Gly958Glu)	MED12 (G958E)	Single nucleotide variant (missense variant)	FG syndrome 1	Gnot provided
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
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 252963	NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)	MED12 (I1023V)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GUncertain significance
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 1210242	NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	MED12 (R1138W)	Single nucleotide variant (missense variant)	MED12-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 50279	NM_005120.3(MED12):c.3443G>A (p.Arg1148His)	MED12 (R1148H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 50280	NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)	MED12 (S1165P)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GPathogenic
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 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 1210243	NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu)	MED12 (G1218E)	Single nucleotide variant (missense variant)	FG syndrome 1	Gnot provided
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 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 1210244	NM_005120.3(MED12):c.3932T>A (p.Val1311Glu)	MED12 (V1311E)	Single nucleotide variant (missense variant)	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 1210246	NM_005120.3(MED12):c.4070G>A (p.Arg1357His)	MED12 (R1357H)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GPathogenic
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 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 1210247	NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln)	MED12 (R1467Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196905	NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)	MED12 (W1557R)	Single nucleotide variant (missense variant)	not provided	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 1210248	NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs)	MED12 (V1635fs)	Indel (frameshift variant)	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 50281	NM_005120.3(MED12):c.5185C>A (p.His1729Asn)	MED12 (H1729N)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GPathogenic
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 252964	NM_005120.3(MED12):c.5898dup (p.Ser1967fs)	MED12 (S1967fs)	Duplication (frameshift variant)	MED12-related intellectual disability syndrome +1 more	GPathogenic/Likely pathogenic
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 252965	NM_005120.3(MED12):c.5922G>T (p.Gln1974His)	MED12 (Q1974H)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GUncertain significance
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 1210253	NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter)	MED12 (Y2077*)	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 1210255	NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter)	MED12 (Q2090*)	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 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 427070	NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)	MED12 (Q2159P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 51