ClinVar for Gene (Select 9968) - 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 3361491	NM_005120.3(MED12):c.6466C>T (p.Arg2156Trp)	MED12 (R2156W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361027	NM_005120.3(MED12):c.5426G>A (p.Ser1809Asn)	MED12 (S1809N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3360900	NM_005120.3(MED12):c.2796C>G (p.His932Gln)	MED12 (H932Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360122	NM_005120.3(MED12):c.5096C>G (p.Pro1699Arg)	MED12 (P1699R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359691	NM_005120.3(MED12):c.1640C>G (p.Ala547Gly)	MED12 (A547G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359406	NM_005120.3(MED12):c.3710G>T (p.Gly1237Val)	MED12 (G1237V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355518	NM_005120.3(MED12):c.5449C>T (p.Pro1817Ser)	MED12 (P1817S)	Single nucleotide variant (missense variant)	MED12-related disorder	GUncertain significance
Select item 3349085	NM_005120.3(MED12):c.5106G>A (p.Trp1702Ter)	MED12 (W1702*)	Single nucleotide variant (nonsense)	MED12-related disorder	GLikely pathogenic
Select item 3346794	NM_005120.3(MED12):c.4245dup (p.Val1416fs)	MED12 (V1416fs)	Duplication (frameshift variant)	MED12-related disorder	GLikely pathogenic
Select item 3346714	NM_005120.3(MED12):c.1978C>G (p.Pro660Ala)	MED12 (P660A)	Single nucleotide variant (missense variant)	MED12-related disorder	GUncertain significance
Select item 3346550	NM_005120.3(MED12):c.3577+6T>C	MED12	Single nucleotide variant (intron variant)	MED12-related disorder	GUncertain significance
Select item 3343658	NM_005120.3(MED12):c.5027G>T (p.Gly1676Val)	MED12 (G1676V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343409	NM_005120.3(MED12):c.4091A>G (p.Gln1364Arg)	MED12 (Q1364R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342900	NM_005120.3(MED12):c.788A>G (p.Glu263Gly)	MED12 (E263G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342629	NM_005120.3(MED12):c.4799G>T (p.Ser1600Ile)	MED12 (S1600I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340806	NM_005120.3(MED12):c.16A>C (p.Ile6Leu)	MED12 (I6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340609	NM_005120.3(MED12):c.271C>T (p.Arg91Cys)	MED12 (R91C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339726	NM_005120.3(MED12):c.3982C>T (p.His1328Tyr)	MED12 (H1328Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337278	NM_005120.3(MED12):c.2291G>A (p.Arg764Gln)	MED12 (R764Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337277	NM_005120.3(MED12):c.1681C>G (p.Pro561Ala)	LOC126863275, MED12 (P561A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337276	NM_005120.3(MED12):c.1612G>A (p.Ala538Thr)	LOC126863275, MED12 (A538T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337275	NM_005120.3(MED12):c.1601C>T (p.Ala534Val)	LOC126863275, MED12 (A534V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337274	NM_005120.3(MED12):c.101A>G (p.Asp34Gly)	MED12 (D34G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3293973	NM_005120.3(MED12):c.1652G>C (p.Gly551Ala)	LOC126863275, MED12 (G551A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3293972	NM_005120.3(MED12):c.3833A>G (p.Tyr1278Cys)	MED12 (Y1278C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3293971	NM_005120.3(MED12):c.4993A>G (p.Ile1665Val)	MED12 (I1665V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3293969	NM_005120.3(MED12):c.5546C>T (p.Pro1849Leu)	MED12 (P1849L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3293968	NM_005120.3(MED12):c.2150A>C (p.Lys717Thr)	MED12 (K717T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3293967	NM_005120.3(MED12):c.4205G>C (p.Ser1402Thr)	MED12 (S1402T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3293966	NM_005120.3(MED12):c.3087T>C (p.Pro1029=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3293965	NM_005120.3(MED12):c.13G>A (p.Gly5Arg)	MED12 (G5R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3293964	NM_005120.3(MED12):c.4656G>A (p.Gln1552=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3293962	NM_005120.3(MED12):c.1608T>C (p.Ile536=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3293961	NM_005120.3(MED12):c.2604T>C (p.Pro868=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3293960	NM_005120.3(MED12):c.3583C>T (p.Pro1195Ser)	MED12 (P1195S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3257393	NM_005120.3(MED12):c.4191G>A (p.Gly1397=)	MED12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253454	NM_005120.3(MED12):c.3961A>G (p.Met1321Val)	MED12 (M1321V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252818	NM_005120.3(MED12):c.1137G>C (p.Trp379Cys)	MED12 (W379C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AMER1, AR +55 more	Duplication	not provided	GUncertain significance
Select item 3243846	NC_000023.10:g.(?_70338605)_(70362068_?)dup	MED12	Duplication	FG syndrome	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239157	NM_005120.3(MED12):c.1975-6C>A	MED12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3233405	NM_005120.3(MED12):c.3667G>C (p.Val1223Leu)	MED12 (V1223L)	Single nucleotide variant (missense variant)	Nonspecific Intellectual Disability	GLikely pathogenic
Select item 3233404	NM_005120.3(MED12):c.5993A>T (p.Tyr1998Phe)	MED12 (Y1998F)	Single nucleotide variant (missense variant)	MED12-related disorder	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 3224596	NM_005120.3(MED12):c.6381C>G (p.Pro2127=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224595	NM_005120.3(MED12):c.6334C>G (p.Gln2112Glu)	MED12 (Q2112E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224594	NM_005120.3(MED12):c.5953G>A (p.Val1985Ile)	MED12 (V1985I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224593	NM_005120.3(MED12):c.5776T>C (p.Ser1926Pro)	MED12 (S1926P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224592	NM_005120.3(MED12):c.5672C>G (p.Ser1891Cys)	MED12 (S1891C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224591	NM_005120.3(MED12):c.5529C>A (p.Thr1843=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224590	NM_005120.3(MED12):c.5331C>T (p.Pro1777=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224589	NM_005120.3(MED12):c.5187C>T (p.His1729=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224588	NM_005120.3(MED12):c.5157G>A (p.Glu1719=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224587	NM_005120.3(MED12):c.4935C>T (p.Thr1645=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224586	NM_005120.3(MED12):c.4763T>C (p.Val1588Ala)	MED12 (V1588A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224585	NM_005120.3(MED12):c.4336G>T (p.Ala1446Ser)	MED12 (A1446S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224584	NM_005120.3(MED12):c.4051T>C (p.Leu1351=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224583	NM_005120.3(MED12):c.3610G>A (p.Asp1204Asn)	MED12 (D1204N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3224582	NM_005120.3(MED12):c.3590T>C (p.Val1197Ala)	MED12 (V1197A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224581	NM_005120.3(MED12):c.3552G>A (p.Gln1184=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224580	NM_005120.3(MED12):c.3549G>A (p.Pro1183=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224579	NM_005120.3(MED12):c.2928T>C (p.Tyr976=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224578	NM_005120.3(MED12):c.2913C>T (p.Ile971=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224577	NM_005120.3(MED12):c.2733C>T (p.Ser911=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224576	NM_005120.3(MED12):c.2717A>T (p.Glu906Val)	MED12 (E906V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224575	NM_005120.3(MED12):c.2702G>A (p.Ser901Asn)	MED12 (S901N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224574	NM_005120.3(MED12):c.2502G>A (p.Gln834=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224573	NM_005120.3(MED12):c.2165T>C (p.Leu722Pro)	MED12 (L722P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224572	NM_005120.3(MED12):c.1957A>T (p.Ser653Cys)	MED12 (S653C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224571	NM_005120.3(MED12):c.1941G>C (p.Lys647Asn)	MED12 (K647N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224570	NM_005120.3(MED12):c.188G>C (p.Ser63Thr)	MED12 (S63T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224569	NM_005120.3(MED12):c.1683C>G (p.Pro561=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224568	NM_005120.3(MED12):c.1647G>A (p.Glu549=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224567	NM_005120.3(MED12):c.1509G>T (p.Val503=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224566	NM_005120.3(MED12):c.14G>C (p.Gly5Ala)	MED12 (G5A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3224565	NM_005120.3(MED12):c.120T>C (p.Asn40=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3224564	NM_005120.3(MED12):c.1203G>T (p.Pro401=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3124874	NM_005120.3(MED12):c.4637C>T (p.Thr1546Met)	MED12 (T1546M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3124873	NM_005120.3(MED12):c.4271G>A (p.Gly1424Asp)	MED12 (G1424D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3124872	NM_005120.3(MED12):c.3887G>A (p.Cys1296Tyr)	MED12 (C1296Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3124870	NM_005120.3(MED12):c.3599G>A (p.Arg1200His)	MED12 (R1200H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3124869	NM_005120.3(MED12):c.3542A>G (p.Lys1181Arg)	MED12 (K1181R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3124868	NM_005120.3(MED12):c.2144A>G (p.Lys715Arg)	MED12 (K715R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3124866	NM_005120.3(MED12):c.1057C>T (p.Pro353Ser)	MED12 (P353S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3069040	NM_005120.3(MED12):c.3030A>G (p.Pro1010=)	MED12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3067583	NM_005120.3(MED12):c.4520T>C (p.Val1507Ala)	MED12 (V1507A)	Single nucleotide variant (missense variant)	not provided	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 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 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
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 3059906	NM_005120.3(MED12):c.4416-77CTCTT[9]	MED12	Microsatellite (intron variant)	MED12-related disorder	GLikely benign
Select item 3058088	NM_005120.3(MED12):c.78T>C (p.Pro26=)	MED12	Single nucleotide variant (synonymous variant)	MED12-related disorder	GLikely benign
Select item 3055527	NM_005120.3(MED12):c.4416-77CTCTT[10]	MED12	Microsatellite (intron variant)	MED12-related disorder	GLikely benign
Select item 3055113	NM_005120.3(MED12):c.1272C>T (p.Ile424=)	MED12	Single nucleotide variant (synonymous variant)	MED12-related disorder	GLikely benign
Select item 3035567	NM_005120.3(MED12):c.1702G>T (p.Asp568Tyr)	LOC126863275, MED12 (D568Y)	Single nucleotide variant (missense variant)	MED12-related disorder	GUncertain significance
Select item 3030772	NM_005120.3(MED12):c.2372-8C>A	MED12	Single nucleotide variant (intron variant)	MED12-related disorder	GLikely benign
Select item 3027433	NM_005120.3(MED12):c.396G>A (p.Lys132=)	MED12	Single nucleotide variant (synonymous variant)	See cases	GUncertain significance

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