ClinVar for MedGen (Select 785805) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064230	NM_005120.3(MED12):c.6352C>T (p.Gln2118Ter)	MED12 (Q2118*)	Single nucleotide variant (nonsense)	Blepharophimosis - intellectual disability syndrome, MKB type	GPathogenic
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 2431943	NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu)	MED12 (D1770E)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GUncertain significance
Select item 2431673	NM_005120.3(MED12):c.1102-6T>C	MED12	Single nucleotide variant (intron variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GUncertain significance
Select item 2431417	NM_005120.3(MED12):c.6017A>G (p.Tyr2006Cys)	MED12 (Y2006C)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GUncertain significance
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 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 1685374	NM_005120.3(MED12):c.1248+3A>G	MED12	Single nucleotide variant (intron variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GLikely pathogenic
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 1360673	NM_005120.3(MED12):c.6076A>G (p.Met2026Val)	MED12 (M2026V)	Single nucleotide variant (missense variant)	FG syndrome 1 +4 more	GUncertain significance
Select item 1342907	NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile)	MED12 (L2158I)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GUncertain significance
Select item 1327474	NM_005120.3(MED12):c.823C>G (p.Leu275Val)	MED12 (L275V)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GUncertain significance
Select item 1319901	NM_005120.3(MED12):c.439G>A (p.Ala147Thr)	MED12 (A147T)	Single nucleotide variant (missense variant)	FG syndrome 1 +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 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 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 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 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
Select item 975295	NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser)	MED12 (P1860S)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GLikely pathogenic
Select item 973226	NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)	MED12 (Q1316E)	Single nucleotide variant (missense variant)	FG syndrome +3 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 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)	FG syndrome +6 more	GUncertain significance
Select item 522927	NM_005120.3(MED12):c.6267+166G>A	MED12	Single nucleotide variant (intron variant)	Blepharophimosis - intellectual disability syndrome, MKB type	GUncertain significance
Select item 522746	NM_005120.3(MED12):c.3210-27C>T	MED12	Single nucleotide variant (intron variant)	Blepharophimosis - intellectual disability syndrome, MKB type	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 519565	NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)	MED12	Deletion (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +2 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 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 415265	NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)	MED12 (Q2076del)	Microsatellite (inframe_deletion)	X-linked intellectual disability with marfanoid habitus +5 more	GLikely benign
Select item 392410	NM_005120.3(MED12):c.272G>T (p.Arg91Leu)	MED12 (R91L)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GUncertain significance
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 382204	NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys)	MED12 (R1611C)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type +1 more	GPathogenic/Likely pathogenic
Select item 378127	NM_005120.3(MED12):c.384A>G (p.Gln128=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +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 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)	not provided +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)	FG syndrome +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)	FG syndrome +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)	FG syndrome +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 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)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign
Select item 95246	NM_005120.3(MED12):c.2849+14C>T	MED12	Single nucleotide variant (intron variant)	X-linked intellectual disability with marfanoid habitus +5 more	GConflicting classifications of pathogenicity
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 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 50279	NM_005120.3(MED12):c.3443G>A (p.Arg1148His)	MED12 (R1148H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 11520	NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	MED12 (R961W)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 57