Related gene-specific medical variations for Gene (Select 9969) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362317	NM_005121.3(MED13):c.3509C>G (p.Ser1170Cys)	MED13 (S1170C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GLikely pathogenic
Select item 3361365	NM_005121.3(MED13):c.448G>T (p.Asp150Tyr)	MED13 (D150Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361313	NM_005121.3(MED13):c.6331G>C (p.Glu2111Gln)	MED13 (E2111Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360910	NM_005121.3(MED13):c.2851C>A (p.Leu951Ile)	MED13 (L951I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360514	NM_005121.3(MED13):c.4101A>C (p.Arg1367Ser)	MED13 (R1367S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360452	NM_005121.3(MED13):c.5363A>G (p.Asn1788Ser)	MED13 (N1788S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360137	NM_005121.3(MED13):c.4856G>T (p.Arg1619Leu)	MED13 (R1619L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360033	NM_005121.3(MED13):c.1423C>G (p.Pro475Ala)	MED13 (P475A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359375	NM_005121.3(MED13):c.3926C>T (p.Thr1309Ile)	MED13 (T1309I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358923	NM_005121.3(MED13):c.1570G>T (p.Gly524Cys)	MED13 (G524C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GLikely benign
Select item 3293991	NM_005121.3(MED13):c.19C>G (p.Pro7Ala)	LOC130061364, MED13 (P7A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242254	NM_005121.3(MED13):c.5541C>A (p.Cys1847Ter)	MED13 (C1847*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder 61	GLikely pathogenic
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 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 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 2648024	NM_005121.3(MED13):c.13T>C (p.Phe5Leu)	LOC130061364, MED13 (F5L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2575175	NM_005121.3(MED13):c.4225C>T (p.Arg1409Ter)	MED13 (R1409*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder 61	GLikely pathogenic
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
Select item 2441979	NM_005121.3(MED13):c.700G>A (p.Gly234Ser)	MED13 (G234S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2441917	NM_005121.3(MED13):c.413_414dup (p.Ile139fs)	MED13 (I139fs)	Duplication (frameshift variant)	Intellectual developmental disorder 61	GLikely pathogenic
Select item 2433702	NM_005121.3(MED13):c.3389T>C (p.Met1130Thr)	MED13 (M1130T)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2433701	NM_005121.3(MED13):c.4631C>G (p.Ser1544Cys)	MED13 (S1544C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2433700	NM_005121.3(MED13):c.749C>G (p.Ser250Cys)	MED13 (S250C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2433698	NM_005121.3(MED13):c.3719G>A (p.Arg1240His)	MED13 (R1240H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2433697	NM_005121.3(MED13):c.1489C>G (p.Leu497Val)	MED13 (L497V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2429877	NM_005121.3(MED13):c.2645T>C (p.Ile882Thr)	MED13 (I882T)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429876	NM_005121.3(MED13):c.540T>G (p.Ile180Met)	MED13 (I180M)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429875	NM_005121.3(MED13):c.5112A>C (p.Arg1704Ser)	MED13 (R1704S)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2347617	NM_005121.3(MED13):c.55C>G (p.Leu19Val)	LOC130061364, MED13 (L19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700230	NM_005121.3(MED13):c.4191+1G>A	MED13	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder 61	GPathogenic
Select item 1696740	NM_005121.3(MED13):c.4468C>T (p.Pro1490Ser)	MED13 (P1490S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 1696709	NM_005121.3(MED13):c.3496C>G (p.Leu1166Val)	MED13 (L1166V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 1676443	NM_005121.3(MED13):c.2476+7T>G	MED13	Single nucleotide variant	not provided	GUncertain significance
Select item 1341808	NM_005121.3(MED13):c.4163T>G (p.Phe1388Cys)	MED13 (F1388C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 1319900	NM_005121.3(MED13):c.3207_3208del (p.His1069fs)	MED13 (H1069fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 996866	NM_005121.3(MED13):c.2291G>A (p.Arg764His)	MED13 (R764H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 978189	NM_005121.3(MED13):c.1568A>G (p.His523Arg)	MED13 (H523R)	Single nucleotide variant (missense variant)	Specific learning disability +1 more	GUncertain significance
Select item 977385	NM_005121.3(MED13):c.3796A>G (p.Lys1266Glu)	MED13 (K1266E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975435	NM_005121.3(MED13):c.1968-1G>A	MED13	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder 61	GLikely pathogenic
Select item 932551	GRCh37/hg19 17q23.2(chr17:60106902-60112969)x3	MED13	Copy number gain	not provided	GLikely pathogenic
Select item 931325	NM_005121.3(MED13):c.1825G>T (p.Asp609Tyr)	MED13 (D609Y)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 598777	NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu)	MED13 (P2016L)	Single nucleotide variant (missense variant)	CDK8-kinase module-associated disorder	GLikely pathogenic
Select item 157399	Single allele	MED13	Deletion	Normal pregnancy	Gnot provided

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Links from Gene

Items: 49