"GeneDx"[submitter] AND "MED12L"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 3371207	NM_001393769.1(MED12L):c.50C>T (p.Pro17Leu)	MED12L (P17L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578134	NM_001393769.1(MED12L):c.74A>G (p.Tyr25Cys)	MED12L (Y25C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712677	NM_001393769.1(MED12L):c.82G>T (p.Asp28Tyr)	MED12L (D28Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878794	NM_001393769.1(MED12L):c.96G>C (p.Lys32Asn)	MED12L (K32N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576829	NM_001393769.1(MED12L):c.113C>T (p.Ala38Val)	MED12L (A38V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806672	NM_001393769.1(MED12L):c.185T>G (p.Ile62Ser)	MED12L (I62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504500	NM_001393769.1(MED12L):c.204G>A (p.Lys68=)	MED12L	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3369620	NM_001393769.1(MED12L):c.547C>A (p.Pro183Thr)	MED12L (P183T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444776	NM_001393769.1(MED12L):c.790C>T (p.Pro264Ser)	MED12L (P264S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343835	NM_001393769.1(MED12L):c.901C>T (p.Arg301Cys)	MED12L (R301C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580557	NM_001393769.1(MED12L):c.982A>G (p.Ser328Gly)	MED12L (S328G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367851	NM_001393769.1(MED12L):c.998G>T (p.Ser333Ile)	MED12L (S333I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497898	NM_001393769.1(MED12L):c.1168A>G (p.Ser390Gly)	MED12L (S390G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369670	NM_001393769.1(MED12L):c.1244C>G (p.Ala415Gly)	MED12L (A415G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363456	NM_001393769.1(MED12L):c.1328C>T (p.Ser443Leu)	MED12L (S443L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318451	NM_001393769.1(MED12L):c.1358G>A (p.Gly453Glu)	MED12L (G453E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366227	NM_001393769.1(MED12L):c.1429A>G (p.Ser477Gly)	MED12L (S477G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 152901	GRCh38/hg38 3q25.1(chr3:151182346-151437002)x3	GPR171, GPR87 +11 more	Copy number gain	See cases	GUncertain significance
Select item 1329637	NM_001393769.1(MED12L):c.1543G>A (p.Val515Met)	MED12L (V515M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446112	NM_001393769.1(MED12L):c.1630T>C (p.Cys544Arg)	MED12L (C544R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442444	NM_001393769.1(MED12L):c.1636G>A (p.Glu546Lys)	MED12L (E546K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804397	NM_001393769.1(MED12L):c.1639T>C (p.Ser547Pro)	MED12L (S547P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371148	NM_001393769.1(MED12L):c.1664C>G (p.Ser555Cys)	MED12L (S555C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580098	NM_001393769.1(MED12L):c.1682T>G (p.Leu561Arg)	MED12L (L561R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369260	NM_001393769.1(MED12L):c.1877A>G (p.Asp626Gly)	MED12L (D626G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428980	NM_001393769.1(MED12L):c.2165G>A (p.Arg722Lys)	MED12L (R687K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320707	NM_001393769.1(MED12L):c.2215C>T (p.His739Tyr)	MED12L (H704Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2580598	NM_001393769.1(MED12L):c.2227G>A (p.Ala743Thr)	MED12L (A708T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261633	NM_022788.5(P2RY12):c.36T>G (p.Gly12=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 261632	NM_022788.5(P2RY12):c.18C>T (p.Asn6=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2505949	NM_001393769.1(MED12L):c.2323G>A (p.Ala775Thr)	MED12L, P2RY12 (A740T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723020	NM_001393769.1(MED12L):c.2638G>A (p.Gly880Arg)	MED12L, P2RY12 (G845R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1693396	NM_001393769.1(MED12L):c.2708C>T (p.Ser903Phe)	MED12L, P2RY12 (S868F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430446	NM_001393769.1(MED12L):c.2857C>T (p.Pro953Ser)	MED12L, P2RY12 (P918S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2295737	NM_001393769.1(MED12L):c.2873C>T (p.Ser958Phe)	MED12L, P2RY12 (S923F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3378093	NM_001393769.1(MED12L):c.2895_2896del (p.Tyr966fs)	MED12L, P2RY12 (Y931fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3370780	NM_001393769.1(MED12L):c.3014C>T (p.Ser1005Leu)	MED12L, P2RY12 (S1005L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695590	NM_001393769.1(MED12L):c.3177T>A (p.Asp1059Glu)	MED12L, P2RY12 (D1024E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707006	NM_001393769.1(MED12L):c.3271C>G (p.Leu1091Val)	MED12L, P2RY12 (L1056V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1329674	NM_001393769.1(MED12L):c.3367A>G (p.Ile1123Val)	MED12L, P2RY12 (I1088V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2576787	NM_001393769.1(MED12L):c.3385C>T (p.Arg1129Ter)	MED12L, P2RY12 (R1094* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1707873	NM_001393769.1(MED12L):c.3469G>A (p.Glu1157Lys)	MED12L, P2RY12 (E1122K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1699844	NM_001393769.1(MED12L):c.3533T>G (p.Phe1178Cys)	P2RY12, MED12L (F1143C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1806201	NM_001393769.1(MED12L):c.3541C>G (p.Gln1181Glu)	MED12L, P2RY12 (Q1146E +1 more)	Single nucleotide variant (missense variant +1 more)	Nizon-Isidor syndrome +1 more	GUncertain significance
Select item 2505840	NM_001393769.1(MED12L):c.3708TGA[1] (p.Asp1238del)	MED12L, P2RY12 (D1203del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1803464	NM_001393769.1(MED12L):c.3751G>C (p.Asp1251His)	MED12L, P2RY12 (D1216H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1683810	NM_001393769.1(MED12L):c.4186A>G (p.Ile1396Val)	MED12L, P2RY12 (I1361V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3369088	NM_001393769.1(MED12L):c.4273G>T (p.Asp1425Tyr)	MED12L, P2RY12 (D1390Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1800867	NM_001393769.1(MED12L):c.4328G>A (p.Arg1443His)	MED12L, P2RY12 (R1408H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3372590	NM_001393769.1(MED12L):c.4334G>T (p.Gly1445Val)	MED12L, P2RY12 (G1410V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1318506	NM_001393769.1(MED12L):c.4598G>A (p.Ser1533Asn)	MED12L, P2RY12 (S1498N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1251486	NM_001393769.1(MED12L):c.4790+15C>T	MED12L, P2RY12	Single nucleotide variant (intron variant)	Nizon-Isidor syndrome +1 more	GBenign
Select item 1318720	NM_001393769.1(MED12L):c.4850C>G (p.Ser1617Cys)	MED12L, P2RY12 (S1582C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572867	NM_001393769.1(MED12L):c.5058_5075del (p.Ala1687_Ile1692del)	MED12L	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3373603	NM_001393769.1(MED12L):c.5140G>A (p.Gly1714Ser)	MED12L (G1679S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371721	NM_001393769.1(MED12L):c.5170G>A (p.Ala1724Thr)	MED12L (A1689T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320498	NM_001393769.1(MED12L):c.5212T>C (p.Tyr1738His)	MED12L (Y1703H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367849	NM_001393769.1(MED12L):c.5290C>G (p.Pro1764Ala)	MED12L (P1729A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582169	NM_001393769.1(MED12L):c.5425A>G (p.Lys1809Glu)	MED12L (K1774E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575657	NM_001393769.1(MED12L):c.5472A>G (p.Ile1824Met)	MED12L (I1789M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800655	NM_001393769.1(MED12L):c.5575G>A (p.Gly1859Ser)	MED12L (G1824S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373175	NM_001393769.1(MED12L):c.5625C>A (p.Asp1875Glu)	MED12L (D1840E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707032	NM_001393769.1(MED12L):c.5698A>T (p.Met1900Leu)	MED12L (M1865L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708771	NM_001393769.1(MED12L):c.5818C>A (p.Gln1940Lys)	MED12L (Q1905K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500587	NM_001393769.1(MED12L):c.5830G>T (p.Gly1944Trp)	MED12L (G1909W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442481	NM_001393769.1(MED12L):c.5834A>T (p.Asp1945Val)	MED12L (D1910V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252857	NM_001393769.1(MED12L):c.5924G>A (p.Gly1975Asp)	MED12L (G1940D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446524	NM_001393769.1(MED12L):c.5938G>A (p.Gly1980Arg)	MED12L (G1945R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707741	NM_001393769.1(MED12L):c.6035C>T (p.Ser2012Phe)	MED12L (S1977F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340877	NM_001393769.1(MED12L):c.6298-2A>C	MED12L	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3361598	NM_001393769.1(MED12L):c.4354_4355insG (p.Leu1452fs)	MED12L (L1417fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3360383	NM_001393769.1(MED12L):c.5609G>A (p.Gly1870Asp)	MED12L (G1835D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359308	NM_001393769.1(MED12L):c.2128A>G (p.Arg710Gly)	MED12L (R675G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76