MED12L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 149627	GRCh38/hg38 3q25.1(chr3:150889603-151142420)x3	CLRN1, CLRN1-AS1 +6 more	Copy number gain	See cases	GLikely benign
Select item 3124884	NM_001393769.1(MED12L):c.32A>G (p.Gln11Arg)	MED12L (Q11R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620329	NM_001393769.1(MED12L):c.61C>T (p.Pro21Ser)	MED12L (P21S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3124897	NM_001393769.1(MED12L):c.86C>G (p.Pro29Arg)	MED12L (P29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2431424	NM_001393769.1(MED12L):c.148G>A (p.Ala50Thr)	MED12L (A50T)	Single nucleotide variant (missense variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2225367	NM_001393769.1(MED12L):c.167A>G (p.His56Arg)	MED12L (H56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576163	NM_001393769.1(MED12L):c.184A>G (p.Ile62Val)	MED12L (I62V)	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 2540373	NM_001393769.1(MED12L):c.219T>G (p.Phe73Leu)	MED12L (F73L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124882	NM_001393769.1(MED12L):c.266C>T (p.Thr89Met)	MED12L (T89M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 560274	NM_001393769.1(MED12L):c.348G>T (p.Trp116Cys)	MED12L (W116C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2410402	NM_001393769.1(MED12L):c.459G>T (p.Met153Ile)	MED12L (M153I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2230408	NM_001393769.1(MED12L):c.508A>T (p.Ile170Leu)	MED12L (I170L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617384	NM_001393769.1(MED12L):c.548C>T (p.Pro183Leu)	MED12L (P183L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2357131	NM_001393769.1(MED12L):c.666G>T (p.Glu222Asp)	MED12L (E222D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1371171	NM_001393769.1(MED12L):c.667G>T (p.Val223Leu)	MED12L (V223L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705238	NM_001393769.1(MED12L):c.680T>G (p.Met227Arg)	MED12L (M227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696476	NM_001393769.1(MED12L):c.701A>G (p.Glu234Gly)	MED12L (E234G)	Single nucleotide variant (missense variant)	MED12L-related condition +1 more	GUncertain significance
Select item 2581422	NM_001393769.1(MED12L):c.787A>G (p.Arg263Gly)	MED12L (R263G)	Single nucleotide variant (missense variant)	not specified	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 1974170	NM_001393769.1(MED12L):c.791C>A (p.Pro264Gln)	MED12L (P264Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3124896	NM_001393769.1(MED12L):c.803A>G (p.Asp268Gly)	MED12L (D268G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209974	NM_001393769.1(MED12L):c.805CTT[1] (p.Leu270del)	MED12L (L270del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	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 985058	NM_001393769.1(MED12L):c.887A>G (p.Tyr296Cys)	MED12L (Y296C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2341515	NM_001393769.1(MED12L):c.1009C>G (p.Pro337Ala)	MED12L (P337A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515171	NM_001393769.1(MED12L):c.1030G>T (p.Val344Leu)	MED12L (V344L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607234	NM_001393769.1(MED12L):c.1075C>T (p.Pro359Ser)	MED12L (P359S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3124876	NM_001393769.1(MED12L):c.1171G>A (p.Ala391Thr)	MED12L (A391T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3124877	NM_001393769.1(MED12L):c.1250A>T (p.Asn417Ile)	MED12L (N417I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223945	NM_001393769.1(MED12L):c.1261C>T (p.Arg421Trp)	MED12L (R421W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2287122	NM_001393769.1(MED12L):c.1349C>A (p.Ser450Tyr)	MED12L (S450Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1321162	NM_001393769.1(MED12L):c.1358-33C>T	MED12L	Single nucleotide variant (intron variant)	Nizon-Isidor syndrome	GBenign
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 2386859	NM_001393769.1(MED12L):c.1361T>G (p.Val454Gly)	MED12L (V454G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2509995	NM_001393769.1(MED12L):c.1473C>G (p.Asn491Lys)	MED12L (N491K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2464522	NM_001393769.1(MED12L):c.1499C>T (p.Ala500Val)	MED12L (A500V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223703	NM_001393769.1(MED12L):c.1523C>T (p.Thr508Met)	MED12L (T508M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2689413	NM_001393769.1(MED12L):c.1626+4G>A	MED12L	Single nucleotide variant (intron variant)	Nizon-Isidor syndrome	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 2485182	NM_001393769.1(MED12L):c.1663T>A (p.Ser555Thr)	MED12L (S555T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 599023	NM_001393769.1(MED12L):c.1746dup (p.Ser583fs)	MED12L (S583fs)	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 870507	NM_001393769.1(MED12L):c.1747dup (p.Ser583fs)	MED12L (S583fs)	Duplication (frameshift variant)	Nizon-Isidor syndrome	GPathogenic
Select item 3067193	NM_001393769.1(MED12L):c.1767T>C (p.Ser589=)	MED12L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920704	NM_001393769.1(MED12L):c.1826A>G (p.His609Arg)	MED12L (H609R)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2637733	NM_001393769.1(MED12L):c.1846G>T (p.Ala616Ser)	MED12L (A616S)	Single nucleotide variant (missense variant)	not specified	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 1297029	NM_001393769.1(MED12L):c.1870C>T (p.Arg624Ter)	MED12L (R624*)	Single nucleotide variant (nonsense)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 3030070	NM_001393769.1(MED12L):c.1871GAG[1] (p.Gly625del)	MED12L (G625del)	Microsatellite (inframe deletion)	MED12L-related condition	GUncertain significance
Select item 2412363	NM_001393769.1(MED12L):c.1906C>T (p.Arg636Trp)	MED12L (R636W)	Single nucleotide variant (missense variant)	MED12L-related condition +1 more	GLikely benign
Select item 2403262	NM_001393769.1(MED12L):c.1907G>A (p.Arg636Gln)	MED12L (R636Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328786	NM_001393769.1(MED12L):c.2083C>T (p.Pro695Ser)	MED12L (P660S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3124879	NM_001393769.1(MED12L):c.2096A>T (p.Glu699Val)	MED12L (E664V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1710467	NM_001393769.1(MED12L):c.2154G>C (p.Lys718Asn)	MED12L (K683N +1 more)	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 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 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 986175	NM_001393769.1(MED12L):c.2239C>T (p.Pro747Ser)	MED12L (P712S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654229	NM_013308.4(GPR171):c.879C>T (p.Arg293=)	GPR171, MED12L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3101609	NM_013308.4(GPR171):c.860A>G (p.His287Arg)	GPR171, MED12L (H287R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616255	NM_013308.4(GPR171):c.841G>T (p.Asp281Tyr)	GPR171, MED12L (D281Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332546	NM_013308.4(GPR171):c.821C>T (p.Ala274Val)	GPR171, MED12L (A274V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371017	NM_013308.4(GPR171):c.775A>G (p.Thr259Ala)	GPR171, MED12L (T259A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489980	NM_013308.4(GPR171):c.764C>G (p.Thr255Ser)	GPR171, MED12L (T255S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2672965	NM_013308.4(GPR171):c.735G>A (p.Pro245=)	GPR171, MED12L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2213121	NM_013308.4(GPR171):c.722T>C (p.Ile241Thr)	GPR171, MED12L (I241T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295196	NM_013308.4(GPR171):c.593C>G (p.Ser198Cys)	GPR171, MED12L (S198C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273849	NM_013308.4(GPR171):c.552T>G (p.Cys184Trp)	GPR171, MED12L (C184W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591953	NM_013308.4(GPR171):c.545T>A (p.Phe182Tyr)	GPR171, MED12L (F182Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654230	NM_013308.4(GPR171):c.520A>G (p.Arg174Gly)	GPR171, MED12L (R174G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2477514	NM_013308.4(GPR171):c.436A>T (p.Met146Leu)	GPR171, MED12L (M146L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295362	NM_013308.4(GPR171):c.168G>C (p.Leu56Phe)	GPR171, MED12L (L56F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101607	NM_013308.4(GPR171):c.122A>G (p.Gln41Arg)	GPR171, MED12L (Q41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617481	NM_013308.4(GPR171):c.28G>A (p.Val10Ile)	GPR171, MED12L (V10I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709196	NM_013308.4(GPR171):c.15G>A (p.Ser5=)	GPR171, MED12L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2394286	NM_014879.4(P2RY14):c.980G>A (p.Arg327Lys)	MED12L, P2RY14 (R327K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323837	NM_014879.4(P2RY14):c.961G>C (p.Asp321His)	MED12L, P2RY14 (D321H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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