"PreventionGenetics, part of Exact Sciences"[submitter] AND "MED13"[ge - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631043	NM_005121.3(MED13):c.6127_6129dup (p.Thr2043_Asp2044insThr)	MED13	Duplication (inframe_insertion)	MED13-related disorder	GUncertain significance
Select item 2633277	NM_005121.3(MED13):c.5824C>G (p.Leu1942Val)	MED13 (L1942V)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 768903	NM_005121.3(MED13):c.5820G>A (p.Thr1940=)	MED13	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2635881	NM_005121.3(MED13):c.5645G>A (p.Arg1882His)	MED13 (R1882H)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2630245	NM_005121.3(MED13):c.5470G>A (p.Val1824Ile)	MED13 (V1824I)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2634082	NM_005121.3(MED13):c.5467G>A (p.Asp1823Asn)	MED13 (D1823N)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 3048916	NM_005121.3(MED13):c.5430A>G (p.Leu1810=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related disorder	GLikely benign
Select item 3054179	NM_005121.3(MED13):c.5400A>G (p.Gln1800=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related disorder	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 782315	NM_005121.3(MED13):c.4959C>T (p.Asp1653=)	MED13	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 722968	NM_005121.3(MED13):c.4944A>T (p.Thr1648=)	MED13	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3052256	NM_005121.3(MED13):c.4921G>A (p.Val1641Ile)	MED13 (V1641I)	Single nucleotide variant (missense variant)	MED13-related disorder	GLikely benign
Select item 775329	NM_005121.3(MED13):c.4902G>A (p.Thr1634=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related disorder +1 more	GBenign/Likely benign
Select item 1260990	NM_005121.3(MED13):c.4848G>A (p.Thr1616=)	MED13	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 775330	NM_005121.3(MED13):c.4776A>G (p.Leu1592=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related disorder +1 more	GBenign
Select item 2631536	NM_005121.3(MED13):c.4273A>C (p.Lys1425Gln)	MED13 (K1425Q)	Single nucleotide variant (missense variant)	MED13-related disorder +1 more	GUncertain significance
Select item 2629715	NM_005121.3(MED13):c.4088A>G (p.Tyr1363Cys)	MED13 (Y1363C)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2630128	NM_005121.3(MED13):c.4028A>G (p.Asp1343Gly)	MED13 (D1343G)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2637228	NM_005121.3(MED13):c.3766G>T (p.Val1256Leu)	MED13 (V1256L)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 3061567	NM_005121.3(MED13):c.3667G>T (p.Val1223Phe)	MED13 (V1223F)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 3042854	NM_005121.3(MED13):c.3474A>G (p.Glu1158=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related disorder	GLikely benign
Select item 3031434	NM_005121.3(MED13):c.3344C>T (p.Thr1115Met)	MED13 (T1115M)	Single nucleotide variant (missense variant)	MED13-related disorder	GLikely benign
Select item 2648011	NM_005121.3(MED13):c.3134C>A (p.Ala1045Asp)	MED13 (A1045D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2634035	NM_005121.3(MED13):c.3030_3038del (p.1011TPR[3])	MED13	Deletion (inframe_deletion)	MED13-related disorder	GUncertain significance
Select item 2633664	NM_005121.3(MED13):c.2863C>A (p.Pro955Thr)	MED13 (P955T)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2630554	NM_005121.3(MED13):c.2801C>T (p.Pro934Leu)	MED13 (P934L)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2631333	NM_005121.3(MED13):c.2446A>G (p.Thr816Ala)	MED13 (T816A)	Single nucleotide variant (missense variant)	MED13-related disorder	GLikely pathogenic
Select item 3046408	NM_005121.3(MED13):c.2439A>G (p.Glu813=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related disorder	GLikely benign
Select item 2636948	NM_005121.3(MED13):c.2269C>T (p.Pro757Ser)	MED13 (P757S)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2632783	NM_005121.3(MED13):c.2225A>C (p.Glu742Ala)	MED13 (E742A)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
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 3034314	NM_005121.3(MED13):c.2182-3C>T	MED13	Single nucleotide variant (intron variant)	MED13-related disorder	GLikely benign
Select item 3037604	NM_005121.3(MED13):c.1968-7dup	MED13	Duplication (intron variant)	MED13-related disorder	GBenign
Select item 1711443	NM_005121.3(MED13):c.1860C>T (p.Phe620=)	MED13	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2631890	NM_005121.3(MED13):c.1762C>G (p.Pro588Ala)	MED13 (P588A)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2630825	NM_005121.3(MED13):c.1754C>G (p.Ser585Cys)	MED13 (S585C)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2648013	NM_005121.3(MED13):c.1751A>G (p.Gln584Arg)	MED13 (Q584R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3049007	NM_005121.3(MED13):c.1681T>C (p.Tyr561His)	MED13 (Y561H)	Single nucleotide variant (missense variant)	MED13-related disorder	GLikely benign
Select item 2213654	NM_005121.3(MED13):c.1658C>T (p.Ser553Leu)	MED13 (S553L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1176056	NM_005121.3(MED13):c.1448G>C (p.Ser483Thr)	MED13 (S483T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3038488	NM_005121.3(MED13):c.1269T>C (p.Asn423=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related disorder	GLikely benign
Select item 768904	NM_005121.3(MED13):c.1203A>G (p.Leu401=)	MED13	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 775331	NM_005121.3(MED13):c.737T>G (p.Leu246Trp)	MED13 (L246W)	Single nucleotide variant (missense variant)	MED13-related disorder +1 more	GBenign
Select item 2633395	NM_005121.3(MED13):c.622T>A (p.Leu208Ile)	MED13 (L208I)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 3024847	NM_005121.3(MED13):c.563T>C (p.Leu188Pro)	MED13 (L188P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2629917	NM_005121.3(MED13):c.416T>C (p.Ile139Thr)	MED13 (I139T)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2629557	NM_005121.2(MED13):c.309_311delAGA	MED13	Microsatellite	MED13-related disorder	GUncertain significance
Select item 768905	NM_005121.3(MED13):c.302-5T>C	MED13	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3048274	NM_005121.3(MED13):c.301+10A>G	MED13	Single nucleotide variant (intron variant)	MED13-related disorder	GLikely benign
Select item 712855	NM_005121.3(MED13):c.283A>G (p.Ile95Val)	MED13 (I95V)	Single nucleotide variant (missense variant)	MED13-related disorder +1 more	GBenign
Select item 3042214	NM_005121.3(MED13):c.275C>G (p.Ala92Gly)	MED13 (A92G)	Single nucleotide variant (missense variant)	MED13-related disorder +1 more	GLikely benign
Select item 711077	NM_005121.3(MED13):c.115A>G (p.Thr39Ala)	MED13 (T39A)	Single nucleotide variant (missense variant)	MED13-related disorder +2 more	GLikely benign
Select item 2629863	NM_005121.3(MED13):c.68C>A (p.Ala23Asp)	MED13 (A23D)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance

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Items: 53