ClinVar for MedGen (Select 208652) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062316	NM_005120.3(MED12):c.6175C>T (p.Gln2059Ter)	MED12 (Q2059*)	Single nucleotide variant (nonsense)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GLikely pathogenic
Select item 2920685	NM_005120.3(MED12):c.1836_1842dup (p.Thr615fs)	MED12 (T615fs)	Duplication (frameshift variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic
Select item 2671927	NM_005120.3(MED12):c.5625del (p.Gly1876fs)	MED12 (G1876fs)	Deletion (frameshift variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GLikely pathogenic
Select item 2582305	NM_005120.3(MED12):c.4483_4490del (p.Gln1495fs)	MED12 (Q1495fs)	Deletion (frameshift variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic
Select item 2431508	NM_005120.3(MED12):c.5429G>T (p.Gly1810Val)	MED12 (G1810V)	Single nucleotide variant (missense variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GUncertain significance
Select item 2199055	NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)	MED12 (R1341Q)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type +6 more	GUncertain significance
Select item 1803908	NM_005120.3(MED12):c.1737del (p.Met580fs)	LOC126863275, MED12 (M580fs)	Deletion (frameshift variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GLikely pathogenic
Select item 1694477	NM_005120.3(MED12):c.6343C>T (p.Gln2115Ter)	MED12 (Q2115*)	Single nucleotide variant (nonsense)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic
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 +4 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 1300145	NM_005120.3(MED12):c.2224C>T (p.Gln742Ter)	MED12 (Q742*)	Single nucleotide variant (nonsense)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic
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 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 1210242	NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	MED12 (R1138W)	Single nucleotide variant (missense variant)	MED12-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 546370	NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)	MED12 (I1387V)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus +6 more	GUncertain significance
Select item 519902	NM_005120.3(MED12):c.184G>A (p.Val62Ile)	MED12 (V62I)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GUncertain significance
Select item 415265	NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)	MED12 (Q2076del)	Microsatellite (inframe_deletion)	X-linked intellectual disability with marfanoid habitus +6 more	GLikely benign
Select item 391402	NM_005120.3(MED12):c.5805C>T (p.Ser1935=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome +6 more	GBenign/Likely benign
Select item 387164	NM_005120.3(MED12):c.3942T>C (p.Ser1314=)	MED12	Single nucleotide variant (synonymous variant)	X-linked intellectual disability with marfanoid habitus +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 1 +7 more	GBenign/Likely benign
Select item 134636	NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)	MED12 (P1371S)	Single nucleotide variant (missense variant)	FG syndrome +7 more	GLikely benign
Select item 95246	NM_005120.3(MED12):c.2849+14C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome +5 more	GConflicting classifications of pathogenicity

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Items: 25