MED12[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	HMGN5, HNRNPH2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130068194, LOC130068195 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	IL1RAPL1, IL2RG +1398 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068031, LOC130068032 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC110120594, LOC110120595 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130067964, LOC130067965 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	CT45A7, CT45A8 +2632 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	ASMT, ASMTL +1475 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC129391293, LOC129391294 +1628 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	FANCB, FGD1 +1932 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	AP1S2, APEX2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	TIMM8A, TIMP1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC119407398, LOC119407399 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	FAM223B, FAM226A +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC126863207, LOC126863208 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	LOC130068458, LOC130068459 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	LOC113875011, LOC113875012 +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068362, LOC130068363 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	LOC130068054, LOC130068055 +2631 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863302, LOC126863303 +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC119407406, LOC119407407 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	ACOT9, ABCB7 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863301, LOC126863302 +2632 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	LOC130067921, LOC130067922 +1798 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC126863205, LOC126863206 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC107985687, LOC107988021 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	LOC130067947, LOC130067948 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	CT45A3, CT45A5 +2632 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC129391306, LOC129391307 +1493 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	CDKL5, CDR1 +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	ABCB7, ABCD1 +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC126863296, LOC126863297 +2593 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068368, LOC130068369 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067891, LOC130067892 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC130068100, LOC130068101 +2585 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2046 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	ABCB7, AKAP4 +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	ABCB7, ACSL4 +824 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	EDA2R, EFNB1 +410 more	Copy number loss	See cases	GPathogenic
Select item 155064	GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1	ABCB7, AMER1 +269 more	Copy number loss	See cases	GPathogenic
Select item 57923	GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	ABCB7, ABCD1 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	LOC113875008, LOC113875009 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068588, LOC130068589 +1467 more	Copy number gain	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	LOC126863270, LOC126863271 +263 more	Copy number gain	See cases	GPathogenic
Select item 58639	GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2	AMER1, AR +120 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	LOC116309158, LOC116309159 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	GPRASP2, GPRASP3 +1464 more	Copy number loss	See cases	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 154251	GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3	ABCB7, AR +206 more	Copy number gain	See cases	GPathogenic
Select item 58640	GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	LINC00891, LOC100132741 +175 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 146778	GRCh38/hg38 Xq13.1(chrX:70974174-71207055)x2	CXorf65, FOXO4 +15 more	Copy number gain	See cases	GUncertain significance
Select item 155458	GRCh38/hg38 Xq13.1(chrX:71022322-71682982)x2	CXCR3, CXorf65 +44 more	Copy number gain	See cases	GUncertain significance
Select item 155235	GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2	CXCR3, CXorf49 +45 more	Copy number gain	See cases	GUncertain significance
Select item 669684	NM_005120.2(MED12):c.-487G>A	MED12	Single nucleotide variant	not provided	GBenign
Select item 1214084	NC_000023.11:g.71118452A>G	MED12	Single nucleotide variant	not provided	GLikely benign
Select item 670932	NM_005120.2(MED12):c.-206A>G	MED12	Single nucleotide variant	not provided	GBenign
Select item 384798	NM_005120.3(MED12):c.-47A>T	MED12	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507960	NM_005120.3(MED12):c.-28G>T	MED12	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2632239	NM_005120.3(MED12):c.5C>T (p.Ala2Val)	MED12 (A2V)	Single nucleotide variant (missense variant)	MED12-related disorder	GUncertain significance
Select item 2901186	NM_005120.3(MED12):c.6G>T (p.Ala2=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2804388	NM_005120.3(MED12):c.15G>C (p.Gly5=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 383831	NM_005120.3(MED12):c.27C>T (p.Tyr9=)	MED12	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1718535	NM_005120.3(MED12):c.33C>A (p.His11Gln)	MED12 (H11Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1129676	NM_005120.3(MED12):c.33C>T (p.His11=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2443460	NM_005120.3(MED12):c.34C>T (p.Arg12Trp)	MED12 (R12W)	Single nucleotide variant (missense variant)	not provided	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 1742533	NM_005120.3(MED12):c.46C>A (p.Arg16=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	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 1009749	NM_005120.3(MED12):c.66C>A (p.Pro22=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GUncertain significance
Select item 1313993	NM_005120.3(MED12):c.70G>T (p.Val24Phe)	MED12 (V24F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1018854	NM_005120.3(MED12):c.70G>A (p.Val24Ile)	MED12 (V24I)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 864670	NM_005120.3(MED12):c.76C>G (p.Pro26Ala)	MED12 (P26A)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
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 2708290	NM_005120.3(MED12):c.82G>A (p.Asp28Asn)	MED12 (D28N)	Single nucleotide variant (missense variant)	FG syndrome	GLikely benign
Select item 1218735	NM_005120.3(MED12):c.85C>A (p.Pro29Thr)	MED12 (P29T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1441611	NM_005120.3(MED12):c.89A>G (p.Lys30Arg)	MED12 (K30R)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 384545	NM_005120.3(MED12):c.93G>C (p.Gln31His)	MED12 (Q31H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1625341	NM_005120.3(MED12):c.96G>A (p.Lys32=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GLikely benign
Select item 2696252	NM_005120.3(MED12):c.99G>A (p.Glu33=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome	GUncertain significance
Select item 1967626	NM_005120.3(MED12):c.99+9G>A	MED12	Single nucleotide variant (intron variant)	FG syndrome	GLikely benign
Select item 1265813	NM_005120.3(MED12):c.100-64A>G	MED12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381897	NM_005120.3(MED12):c.100-19C>T	MED12	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2884523	NM_005120.3(MED12):c.100-15G>T	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 2034948	NM_005120.3(MED12):c.100-15_100-14delinsTT	MED12	Indel (intron variant)	FG syndrome	GUncertain significance
Select item 1548915	NM_005120.3(MED12):c.100-15_100-14delinsAA	MED12	Indel (intron variant)	FG syndrome	GLikely benign
Select item 2031672	NM_005120.3(MED12):c.100-11T>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 3022003	NM_005120.3(MED12):c.100-10C>G	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 92199	NM_005120.3(MED12):c.100-8T>A	MED12	Single nucleotide variant (intron variant)	Uterine leiomyoma	Gnot provided
Select item 1942459	NM_005120.3(MED12):c.100-2A>T	MED12	Single nucleotide variant (splice acceptor variant)	FG syndrome	GLikely pathogenic

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