ClinVar for MedGen (Select 113106) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243846	NC_000023.10:g.(?_70338605)_(70362068_?)dup	MED12	Duplication	FG syndrome	GUncertain significance
Select item 3068646	NM_001367721.1(CASK):c.2521-11del	CASK	Deletion (intron variant)	FG syndrome	GBenign
Select item 3022542	NM_005120.3(MED12):c.5970C>A (p.His1990Gln)	MED12 (H1990Q)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GUncertain significance
Select item 3022310	NM_005120.3(MED12):c.3795C>T (p.Gly1265=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GBenign
Select item 3022003	NM_005120.3(MED12):c.100-10C>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 3021853	NM_005120.3(MED12):c.3354+6A>C	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 3020204	NM_005120.3(MED12):c.1485+11A>G	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 3019764	NM_005120.3(MED12):c.5253G>C (p.Pro1751=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 3019362	NM_005120.3(MED12):c.4048-20G>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 3019322	NM_005120.3(MED12):c.1240A>G (p.Thr414Ala)	MED12 (T414A)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 3018988	NM_005120.3(MED12):c.2686-16C>A	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 3015653	NM_005120.3(MED12):c.1438C>G (p.Leu480Val)	LOC126863275, MED12 (L480V)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 3014626	NM_005120.3(MED12):c.6264G>A (p.Leu2088=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 3014523	NM_005120.3(MED12):c.2371+13C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 3014268	NM_005120.3(MED12):c.5440G>A (p.Val1814Met)	MED12 (V1814M)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 3014209	NM_005120.3(MED12):c.6024T>C (p.His2008=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 3014076	NM_005120.3(MED12):c.2055+20T>C	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 3013114	NM_005120.3(MED12):c.3743A>T (p.Glu1248Val)	MED12 (E1248V)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 3012748	NM_005120.3(MED12):c.3156C>T (p.Ser1052=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 3012200	NM_005120.3(MED12):c.1617+16T>A	LOC126863275, MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 3011922	NM_005120.3(MED12):c.907C>T (p.Arg303Trp)	MED12 (R303W)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 3010907	NM_005120.3(MED12):c.6409-14C>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 3005595	NM_005120.3(MED12):c.2334C>T (p.Ile778=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 3004240	NM_005120.3(MED12):c.5320G>A (p.Ala1774Thr)	MED12 (A1774T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3003775	NM_005120.3(MED12):c.3390T>G (p.Thr1130=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 3003126	NM_005120.3(MED12):c.6029T>C (p.Leu2010Pro)	MED12 (L2010P)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 3001857	NM_005120.3(MED12):c.5026-4G>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2995389	NM_005120.3(MED12):c.4047+13C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2987865	NM_005120.3(MED12):c.913C>T (p.Leu305=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2987521	NM_005120.3(MED12):c.3209+4T>C	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 2987436	NM_005120.3(MED12):c.205-11T>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 2985321	NM_005120.3(MED12):c.2303G>A (p.Arg768His)	MED12 (R768H)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2984619	NM_005120.3(MED12):c.6288GCA[11] (p.Gln2115_His2116insGlnGlnGlnGln)	MED12	Microsatellite (inframe_insertion)	FG syndrome	GUncertain significance
Select item 2981093	NM_005120.3(MED12):c.2194G>T (p.Val732Leu)	MED12 (V732L)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2981092	NM_005120.3(MED12):c.919C>G (p.Leu307Val)	MED12 (L307V)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2979238	NM_005120.3(MED12):c.6268-3T>C	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 2974868	NM_005120.3(MED12):c.2534C>T (p.Thr845Met)	MED12 (T845M)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2974724	NM_005120.3(MED12):c.4254-11_4254-8del	MED12	Microsatellite (intron variant)	FG syndrome	GLikely benign
Select item 2972184	NM_005120.3(MED12):c.60G>A (p.Gly20=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2969332	NM_005120.3(MED12):c.6426T>G (p.Leu2142=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GBenign
Select item 2966145	NM_005120.3(MED12):c.6408+19C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2965829	NM_005120.3(MED12):c.3009C>G (p.Thr1003=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 2962415	NM_005120.3(MED12):c.2532C>G (p.Val844=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GUncertain significance
Select item 2962165	NM_005120.3(MED12):c.1249-7A>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2957989	NM_005120.3(MED12):c.5552-20C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2957717	NM_005120.3(MED12):c.4617+13G>C	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2957350	NM_005120.3(MED12):c.2143A>G (p.Lys715Glu)	MED12 (K715E)	Single nucleotide variant (missense variant)	FG syndrome	GLikely benign
Select item 2955370	NM_005120.3(MED12):c.3990G>C (p.Leu1330=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GBenign
Select item 2919754	NM_005120.3(MED12):c.5400+4A>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 2919351	NM_005120.3(MED12):c.37C>T (p.Pro13Ser)	MED12 (P13S)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2919051	NM_005120.3(MED12):c.3355-11T>C	MED12	Single nucleotide variant (intron variant)	FG syndrome	GBenign
Select item 2919012	NM_005120.3(MED12):c.3210-18A>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2916947	NM_005120.3(MED12):c.567C>T (p.Ile189=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2915249	NM_005120.3(MED12):c.5841T>C (p.Tyr1947=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2914695	NM_005120.3(MED12):c.4995T>C (p.Ile1665=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2914313	NM_005120.3(MED12):c.5749-17C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2911375	NM_005120.3(MED12):c.4727+17C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GBenign
Select item 2911259	NM_005120.3(MED12):c.2652C>T (p.Leu884=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2909865	NM_005120.3(MED12):c.2952T>C (p.His984=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2905123	NM_005120.3(MED12):c.3181G>A (p.Val1061Ile)	MED12 (V1061I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
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 2903052	NM_005120.3(MED12):c.4199C>T (p.Ser1400Phe)	MED12 (S1400F)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2902699	NM_005120.3(MED12):c.959T>C (p.Ile320Thr)	MED12 (I320T)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2902282	NM_005120.3(MED12):c.6177_6194dup (p.Gln2076_Tyr2077insGlnGlnGlnGlnGlnGln)	MED12	Duplication (inframe_insertion)	FG syndrome	GUncertain significance
Select item 2901186	NM_005120.3(MED12):c.6G>T (p.Ala2=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome +1 more	GLikely benign
Select item 2898958	NM_005120.3(MED12):c.3861C>T (p.Cys1287=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2898400	NM_005120.3(MED12):c.3021C>T (p.Asn1007=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2896527	NM_005120.3(MED12):c.1102-14T>C	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2896326	NM_005120.3(MED12):c.4527+18A>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GBenign
Select item 2896223	NM_005120.3(MED12):c.691C>T (p.Arg231Trp)	MED12 (R231W)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2894525	NM_005120.3(MED12):c.2372-9C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GBenign
Select item 2894474	NM_005120.3(MED12):c.6409-12A>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2894244	NM_005120.3(MED12):c.2371+7T>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2891610	NM_005120.3(MED12):c.847-12G>A	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2890740	NM_005120.3(MED12):c.204+9A>C	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2887473	NM_005120.3(MED12):c.1281G>A (p.Gln427=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GBenign
Select item 2887388	NM_005120.3(MED12):c.6023A>G (p.His2008Arg)	MED12 (H2008R)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
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 2886304	NM_005120.3(MED12):c.245G>A (p.Arg82His)	MED12 (R82H)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2884523	NM_005120.3(MED12):c.100-15G>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 2883381	NM_005120.3(MED12):c.2436G>A (p.Gly812=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2882760	NM_005120.3(MED12):c.4223C>T (p.Pro1408Leu)	MED12 (P1408L)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2881453	NM_005120.3(MED12):c.1965C>G (p.Ser655Arg)	MED12 (S655R)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2881245	NM_005120.3(MED12):c.1374T>C (p.His458=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2878153	NM_005120.3(MED12):c.4543C>A (p.Arg1515=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2877628	NM_005120.3(MED12):c.310C>T (p.Leu104=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2877424	NM_005120.3(MED12):c.1026C>T (p.Pro342=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2876870	NM_005120.3(MED12):c.1077T>G (p.Val359=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2876271	NM_005120.3(MED12):c.489C>A (p.Thr163=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2874289	NM_005120.3(MED12):c.4701C>T (p.Ser1567=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2870071	NM_005120.3(MED12):c.5957A>T (p.Asp1986Val)	MED12 (D1986V)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2868703	NM_005120.3(MED12):c.6411C>T (p.Phe2137=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GBenign
Select item 2867115	NM_005120.3(MED12):c.945C>T (p.His315=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2866880	NM_005120.3(MED12):c.3692-5C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 2866265	NM_005120.3(MED12):c.2574C>G (p.Ser858Arg)	MED12 (S858R)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2865156	NM_005120.3(MED12):c.6015_6016delinsAA (p.Tyr2006Asn)	MED12 (Y2006N)	Indel (missense variant)	FG syndrome	GUncertain significance
Select item 2865017	NM_005120.3(MED12):c.4891A>G (p.Ser1631Gly)	MED12 (S1631G)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2862945	NM_005120.3(MED12):c.1013C>T (p.Thr338Ile)	MED12 (T338I)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 2862308	NM_005120.3(MED12):c.1952GCA[4] (p.Ser655del)	MED12 (S655del)	Microsatellite (inframe_deletion)	FG syndrome	GUncertain significance
Select item 2860738	NM_005120.3(MED12):c.378C>T (p.Leu126=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign

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