ClinVar for MedGen (Select 1715748) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338560	NM_001393769.1(MED12L):c.1946del (p.Lys649fs)	MED12L (K649fs)	Deletion (frameshift variant)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 3336838	NM_001393769.1(MED12L):c.4792G>C (p.Glu1598Gln)	MED12L, P2RY12 (E1563Q +1 more)	Single nucleotide variant (missense variant +1 more)	Nizon-Isidor syndrome	GUncertain significance
Select item 3242186	NM_001393769.1(MED12L):c.1626G>A (p.Glu542=)	MED12L	Single nucleotide variant (synonymous variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 3233439	NM_001393769.1(MED12L):c.1270A>G (p.Ile424Val)	MED12L (I424V)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 3069166	NM_001393769.1(MED12L):c.5603C>T (p.Thr1868Ile)	MED12L (T1833I +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2689414	NM_001393769.1(MED12L):c.3757A>G (p.Ile1253Val)	MED12L, P2RY12 (I1218V +1 more)	Single nucleotide variant (missense variant +1 more)	Nizon-Isidor syndrome	GUncertain significance
Select item 2689413	NM_001393769.1(MED12L):c.1626+4G>A	MED12L	Single nucleotide variant (intron variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2689412	NM_001393769.1(MED12L):c.5863C>T (p.Arg1955Trp)	MED12L (R1920W +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2687885	NM_001393769.1(MED12L):c.565C>T (p.Gln189Ter)	MED12L (Q189*)	Single nucleotide variant (nonsense)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 2664691	NM_001393769.1(MED12L):c.5450A>T (p.Asp1817Val)	MED12L (D1782V +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2663853	NM_001393769.1(MED12L):c.348G>A (p.Trp116Ter)	MED12L (W116*)	Single nucleotide variant (nonsense)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 2626925	NM_001393769.1(MED12L):c.3664+1G>A	MED12L, P2RY12	Single nucleotide variant (splice donor variant +1 more)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 2584459	NM_001393769.1(MED12L):c.6287_6288del (p.Arg2096fs)	MED12L (R2061fs +1 more)	Microsatellite (frameshift variant)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 2444860	NM_001393769.1(MED12L):c.5867C>G (p.Pro1956Arg)	MED12L (P1921R +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2441764	NM_001393769.1(MED12L):c.5173T>G (p.Trp1725Gly)	MED12L (W1690G +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2441646	NM_001393769.1(MED12L):c.3664+2T>G	MED12L, P2RY12	Single nucleotide variant (splice donor variant +1 more)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 2433696	NM_001393769.1(MED12L):c.6422G>C (p.Gly2141Ala)	MED12L (G2106A +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2433695	NM_001393769.1(MED12L):c.5330C>T (p.Pro1777Leu)	MED12L (P1742L +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2433694	NM_001393769.1(MED12L):c.1861C>T (p.Leu621Phe)	MED12L (L621F)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2431424	NM_001393769.1(MED12L):c.148G>A (p.Ala50Thr)	MED12L (A50T)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2208524	NM_001393769.1(MED12L):c.6028G>A (p.Ala2010Thr)	MED12L (A1975T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1804112	NM_001393769.1(MED12L):c.5329_5330delinsTG (p.Pro1777Ter)	MED12L (P1742* +1 more)	Indel (nonsense)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 1709936	NM_001393769.1(MED12L):c.3909T>G (p.Cys1303Trp)	MED12L, P2RY12 (C1268W +1 more)	Single nucleotide variant (missense variant +1 more)	Nizon-Isidor syndrome	GUncertain significance
Select item 1709389	NM_001393769.1(MED12L):c.464G>A (p.Arg155Gln)	MED12L (R155Q)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 1705475	NM_001393769.1(MED12L):c.2746_2747dup (p.Cys917fs)	MED12L, P2RY12 (C882fs +1 more)	Microsatellite (frameshift variant +1 more)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 1698751	NM_001393769.1(MED12L):c.2221C>T (p.Gln741Ter)	MED12L (Q706* +1 more)	Single nucleotide variant (nonsense)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 1696624	NM_001393769.1(MED12L):c.2102G>A (p.Cys701Tyr)	MED12L (C666Y +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 1696621	NM_001393769.1(MED12L):c.5597C>T (p.Ser1866Phe)	MED12L (S1831F +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome +1 more	GUncertain significance
Select item 1696476	NM_001393769.1(MED12L):c.701A>G (p.Glu234Gly)	MED12L (E234G)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome +1 more	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 1679736	NM_001393769.1(MED12L):c.2251-4T>A	MED12L, P2RY12	Single nucleotide variant (intron variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 1675325	NM_001393769.1(MED12L):c.815T>A (p.Leu272His)	MED12L (L272H)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 1342631	NM_001393769.1(MED12L):c.6322C>T (p.Pro2108Ser)	MED12L (P2073S +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 1342365	NM_001393769.1(MED12L):c.5807G>A (p.Arg1936Gln)	MED12L (R1901Q +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome +1 more	GUncertain significance
Select item 1334051	NM_001393769.1(MED12L):c.1417C>T (p.Arg473Ter)	MED12L (R473*)	Single nucleotide variant (nonsense)	Nizon-Isidor syndrome	GUncertain significance
Select item 1325565	NM_001393769.1(MED12L):c.2147G>T (p.Cys716Phe)	MED12L (C681F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1321166	NM_001393769.1(MED12L):c.3734G>A (p.Arg1245Gln)	MED12L, P2RY12 (R1210Q +1 more)	Single nucleotide variant (missense variant +1 more)	Nizon-Isidor syndrome	GBenign
Select item 1321165	NM_001393769.1(MED12L):c.3448+24C>A	MED12L, P2RY12	Single nucleotide variant (intron variant)	Nizon-Isidor syndrome	GBenign
Select item 1321164	NM_001393769.1(MED12L):c.3114T>C (p.Asn1038=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	Nizon-Isidor syndrome	GBenign
Select item 1321163	NM_001393769.1(MED12L):c.2517+6T>C	MED12L, P2RY12	Single nucleotide variant (intron variant)	Nizon-Isidor syndrome	GBenign
Select item 1321162	NM_001393769.1(MED12L):c.1358-33C>T	MED12L	Single nucleotide variant (intron variant)	Nizon-Isidor syndrome	GBenign
Select item 1319935	NM_001393769.1(MED12L):c.5003A>T (p.Asp1668Val)	MED12L (D1633V +1 more)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 1299247	NM_001393769.1(MED12L):c.2611C>T (p.Leu871Phe)	MED12L, P2RY12 (L836F +1 more)	Single nucleotide variant (missense variant +1 more)	Nizon-Isidor syndrome	GUncertain significance
Select item 1297029	NM_001393769.1(MED12L):c.1870C>T (p.Arg624Ter)	MED12L (R624*)	Single nucleotide variant (nonsense)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 1251486	NM_001393769.1(MED12L):c.4790+15C>T	MED12L, P2RY12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1180497	NM_001393769.1(MED12L):c.4009G>T (p.Glu1337Ter)	MED12L, P2RY12 (E1302* +1 more)	Single nucleotide variant (nonsense +1 more)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 870508	NM_001393769.1(MED12L):c.4479-1G>A	MED12L, P2RY12	Single nucleotide variant (splice acceptor variant +1 more)	Nizon-Isidor syndrome	GPathogenic
Select item 870507	NM_001393769.1(MED12L):c.1747dup (p.Ser583fs)	MED12L (S583fs)	Duplication (frameshift variant)	Nizon-Isidor syndrome	GPathogenic
Select item 592166	NM_001393769.1(MED12L):c.4791-1G>A	MED12L, P2RY12	Single nucleotide variant (splice acceptor variant +1 more)	Nizon-Isidor syndrome +1 more	GPathogenic

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Items: 50