ClinVar for Gene (Select 9969) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068395	NM_005121.3(MED13):c.4415C>G (p.Ser1472Cys)	MED13 (S1472C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3067569	NM_005121.3(MED13):c.4944A>G (p.Thr1648=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067253	NM_005121.3(MED13):c.3453C>T (p.Arg1151=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065398	NM_005121.3(MED13):c.4793C>T (p.Ser1598Phe)	MED13 (S1598F)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3065303	NM_005121.3(MED13):c.4199G>A (p.Arg1400Gln)	MED13 (R1400Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GLikely benign
Select item 3065079	NM_005121.3(MED13):c.5779C>G (p.Pro1927Ala)	MED13 (P1927A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3064888	NM_005121.3(MED13):c.719A>G (p.Tyr240Cys)	MED13 (Y240C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3063513	GRCh37/hg19 17q23.2(chr17:60052915-60457049)x3	EFCAB3, MED13	Copy number gain	not specified	GUncertain significance
Select item 3061878	NM_005121.3(MED13):c.3573G>T (p.Leu1191Phe)	MED13 (L1191F)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3061567	NM_005121.3(MED13):c.3667G>T (p.Val1223Phe)	MED13 (V1223F)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 3054179	NM_005121.3(MED13):c.5400A>G (p.Gln1800=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related condition	GLikely benign
Select item 3052256	NM_005121.3(MED13):c.4921G>A (p.Val1641Ile)	MED13 (V1641I)	Single nucleotide variant (missense variant)	MED13-related condition	GLikely benign
Select item 3049007	NM_005121.3(MED13):c.1681T>C (p.Tyr561His)	MED13 (Y561H)	Single nucleotide variant (missense variant)	MED13-related condition	GLikely benign
Select item 3048916	NM_005121.3(MED13):c.5430A>G (p.Leu1810=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related condition	GLikely benign
Select item 3048274	NM_005121.3(MED13):c.301+10A>G	MED13	Single nucleotide variant (intron variant)	MED13-related condition	GLikely benign
Select item 3046408	NM_005121.3(MED13):c.2439A>G (p.Glu813=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related condition	GLikely benign
Select item 3042854	NM_005121.3(MED13):c.3474A>G (p.Glu1158=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related condition	GLikely benign
Select item 3042214	NM_005121.3(MED13):c.275C>G (p.Ala92Gly)	MED13 (A92G)	Single nucleotide variant (missense variant)	MED13-related condition	GLikely benign
Select item 3038488	NM_005121.3(MED13):c.1269T>C (p.Asn423=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related condition	GLikely benign
Select item 3037604	NM_005121.3(MED13):c.1968-7dup	MED13	Duplication (intron variant)	MED13-related condition	GBenign
Select item 3034314	NM_005121.3(MED13):c.2182-3C>T	MED13	Single nucleotide variant (intron variant)	MED13-related condition	GLikely benign
Select item 3031434	NM_005121.3(MED13):c.3344C>T (p.Thr1115Met)	MED13 (T1115M)	Single nucleotide variant (missense variant)	MED13-related condition	GLikely benign
Select item 3027434	NM_005121.3(MED13):c.958A>G (p.Met320Val)	MED13 (M320V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3026998	NM_005121.3(MED13):c.5266T>G (p.Cys1756Gly)	MED13 (C1756G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026630	NM_005121.3(MED13):c.1758C>T (p.Phe586=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026590	NM_005121.3(MED13):c.5165G>C (p.Cys1722Ser)	MED13 (C1722S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024847	NM_005121.3(MED13):c.563T>C (p.Leu188Pro)	MED13 (L188P)	Single nucleotide variant (missense variant)	MED13-related condition +1 more	GLikely benign
Select item 2812099	NM_005121.3(MED13):c.6058A>G (p.Thr2020Ala)	MED13 (T2020A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689415	NM_005121.3(MED13):c.694T>A (p.Leu232Ile)	MED13 (L232I)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2685605	GRCh37/hg19 17q23.2(chr17:59960921-60036130)x1	INTS2, MED13	Copy number loss	not provided	GPathogenic
Select item 2685604	GRCh37/hg19 17q23.1-23.2(chr17:58111095-60355640)x1	APPBP2, BCAS3 +12 more	Copy number loss	not provided	GPathogenic
Select item 2672706	NM_005121.3(MED13):c.403A>G (p.Asn135Asp)	MED13 (N135D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2672705	NM_005121.3(MED13):c.3004C>T (p.Pro1002Ser)	MED13 (P1002S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672202	NM_005121.3(MED13):c.316G>A (p.Val106Met)	MED13 (V106M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2672200	NM_005121.3(MED13):c.4178C>G (p.Thr1393Ser)	MED13 (T1393S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2672058	NM_005121.3(MED13):c.1968-501_2181+590del	MED13	Deletion (splice acceptor variant +1 more)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
Select item 2672057	NM_005121.3(MED13):c.1968-866_2181+621del	MED13	Deletion (splice acceptor variant +1 more)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
Select item 2671898	NM_005121.3(MED13):c.1968-867_2181+479del	MED13	Deletion (splice acceptor variant +1 more)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
Select item 2664797	NM_005121.3(MED13):c.4852G>C (p.Asp1618His)	MED13 (D1618H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2663095	NM_005121.3(MED13):c.3860C>G (p.Pro1287Arg)	MED13 (P1287R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661946	NM_005121.3(MED13):c.1637_1639del (p.Glu546del)	MED13 (E546del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2648024	NM_005121.3(MED13):c.13T>C (p.Phe5Leu)	LOC130061364, MED13 (F5L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648023	NM_005121.3(MED13):c.127A>C (p.Ile43Leu)	MED13 (I43L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648022	NM_005121.3(MED13):c.127A>G (p.Ile43Val)	MED13 (I43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648021	NM_005121.3(MED13):c.378A>C (p.Leu126=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648020	NM_005121.3(MED13):c.412C>T (p.Arg138Cys)	MED13 (R138C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648019	NM_005121.3(MED13):c.1223C>G (p.Ala408Gly)	MED13 (A408G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648018	NM_005121.3(MED13):c.1323A>T (p.Gly441=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648017	NM_005121.3(MED13):c.1344G>A (p.Gln448=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648016	NM_005121.3(MED13):c.1467C>T (p.Asp489=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648015	NM_005121.3(MED13):c.1501G>A (p.Ala501Thr)	MED13 (A501T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648014	NM_005121.3(MED13):c.1659A>G (p.Ser553=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648013	NM_005121.3(MED13):c.1751A>G (p.Gln584Arg)	MED13 (Q584R)	Single nucleotide variant (missense variant)	MED13-related condition +1 more	GLikely benign
Select item 2648012	NM_005121.3(MED13):c.2186A>G (p.Glu729Gly)	MED13 (E729G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2648011	NM_005121.3(MED13):c.3134C>A (p.Ala1045Asp)	MED13 (A1045D)	Single nucleotide variant (missense variant)	MED13-related condition +1 more	GLikely benign
Select item 2648010	NM_005121.3(MED13):c.3315C>T (p.Ala1105=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648009	NM_005121.3(MED13):c.3773G>C (p.Ser1258Thr)	MED13 (S1258T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648008	NM_005121.3(MED13):c.4377C>T (p.Asp1459=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648007	NM_005121.3(MED13):c.4614TTCATC[1] (p.Ser1543_Ser1544del)	MED13	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2648006	NM_005121.3(MED13):c.4998A>G (p.Leu1666=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648005	NM_005121.3(MED13):c.5211C>G (p.Gly1737=)	MED13	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2648004	NM_005121.3(MED13):c.6458G>A (p.Arg2153His)	MED13 (R2153H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637228	NM_005121.3(MED13):c.3766G>T (p.Val1256Leu)	MED13 (V1256L)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2636948	NM_005121.3(MED13):c.2269C>T (p.Pro757Ser)	MED13 (P757S)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2635881	NM_005121.3(MED13):c.5645G>A (p.Arg1882His)	MED13 (R1882H)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2634082	NM_005121.3(MED13):c.5467G>A (p.Asp1823Asn)	MED13 (D1823N)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2634035	NM_005121.3(MED13):c.3030_3038del (p.1011TPR[3])	MED13	Deletion (inframe_deletion)	MED13-related condition	GUncertain significance
Select item 2633664	NM_005121.3(MED13):c.2863C>A (p.Pro955Thr)	MED13 (P955T)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2633395	NM_005121.3(MED13):c.622T>A (p.Leu208Ile)	MED13 (L208I)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2633277	NM_005121.3(MED13):c.5824C>G (p.Leu1942Val)	MED13 (L1942V)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2632783	NM_005121.3(MED13):c.2225A>C (p.Glu742Ala)	MED13 (E742A)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2631890	NM_005121.3(MED13):c.1762C>G (p.Pro588Ala)	MED13 (P588A)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2631536	NM_005121.3(MED13):c.4273A>C (p.Lys1425Gln)	MED13 (K1425Q)	Single nucleotide variant (missense variant)	MED13-related condition +1 more	GUncertain significance
Select item 2631333	NM_005121.3(MED13):c.2446A>G (p.Thr816Ala)	MED13 (T816A)	Single nucleotide variant (missense variant)	MED13-related condition	GLikely pathogenic
Select item 2631043	NM_005121.3(MED13):c.6127_6129dup (p.Thr2043_Asp2044insThr)	MED13	Duplication (inframe_insertion)	MED13-related condition	GUncertain significance
Select item 2630825	NM_005121.3(MED13):c.1754C>G (p.Ser585Cys)	MED13 (S585C)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2630554	NM_005121.3(MED13):c.2801C>T (p.Pro934Leu)	MED13 (P934L)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2630245	NM_005121.3(MED13):c.5470G>A (p.Val1824Ile)	MED13 (V1824I)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2630128	NM_005121.3(MED13):c.4028A>G (p.Asp1343Gly)	MED13 (D1343G)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2629917	NM_005121.3(MED13):c.416T>C (p.Ile139Thr)	MED13 (I139T)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2629863	NM_005121.3(MED13):c.68C>A (p.Ala23Asp)	MED13 (A23D)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2629715	NM_005121.3(MED13):c.4088A>G (p.Tyr1363Cys)	MED13 (Y1363C)	Single nucleotide variant (missense variant)	MED13-related condition	GUncertain significance
Select item 2629557	NM_005121.2(MED13):c.309_311delAGA	MED13	Microsatellite	MED13-related condition	GUncertain significance
Select item 2609873	NM_005121.3(MED13):c.395T>C (p.Met132Thr)	MED13 (M132T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606946	NM_005121.3(MED13):c.1493T>G (p.Val498Gly)	MED13 (V498G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606431	NM_005121.3(MED13):c.5036C>G (p.Pro1679Arg)	MED13 (P1679R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603398	NM_005121.3(MED13):c.2694T>G (p.Asp898Glu)	MED13 (D898E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598054	NM_005121.3(MED13):c.4768T>C (p.Ser1590Pro)	MED13 (S1590P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2590955	NM_005121.3(MED13):c.757A>G (p.Lys253Glu)	MED13 (K253E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2582419	NM_005121.3(MED13):c.4256G>T (p.Gly1419Val)	MED13 (G1419V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2582317	NM_005121.3(MED13):c.1523T>A (p.Phe508Tyr)	MED13 (F508Y)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2582137	NM_005121.3(MED13):c.4628C>T (p.Ser1543Phe)	MED13 (S1543F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579488	NM_005121.3(MED13):c.5116A>T (p.Ile1706Phe)	MED13 (I1706F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579157	NM_005121.3(MED13):c.6319G>A (p.Val2107Met)	MED13 (V2107M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2578556	NM_005121.3(MED13):c.2869A>G (p.Met957Val)	MED13 (M957V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2578440	NM_005121.3(MED13):c.6117G>A (p.Lys2039=)	MED13	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2576162	NM_005121.3(MED13):c.1758C>G (p.Phe586Leu)	MED13 (F586L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575175	NM_005121.3(MED13):c.4225C>T (p.Arg1409Ter)	MED13 (R1409*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder 61	GLikely pathogenic
Select item 2573783	NM_005121.3(MED13):c.715T>G (p.Phe239Val)	MED13 (F239V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573032	NM_005121.3(MED13):c.5774T>C (p.Ile1925Thr)	MED13 (I1925T)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance

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