"Baylor Genetics"[submitter] AND "MED23"[gene] - ClinVar

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

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2397	NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)	ARG1, MED23 (R21*)	Single nucleotide variant (nonsense +1 more)	Arginase deficiency +2 more	GPathogenic
Select item 2678298	NM_000045.4(ARG1):c.70dup (p.Val24fs)	ARG1, MED23 (V24fs)	Duplication (frameshift variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 355318	NM_000045.4(ARG1):c.75A>G (p.Glu25=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1076486	NM_000045.4(ARG1):c.93del (p.Arg32fs)	ARG1, MED23 (R32fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 1385981	NM_000045.4(ARG1):c.124G>T (p.Glu42Ter)	ARG1, MED23 (E42*)	Single nucleotide variant (nonsense +1 more)	Arginase deficiency	GPathogenic
Select item 2678250	NM_000045.4(ARG1):c.131-8_131-2del	ARG1, MED23 (I50fs)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678282	NM_000045.4(ARG1):c.232dup (p.Glu78fs)	ARG1, MED23 (E78fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 203606	NM_000045.4(ARG1):c.272dup (p.Arg92fs)	ARG1, MED23 (R92fs +1 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678295	NM_000045.4(ARG1):c.295_301del (p.Gly99fs)	ARG1, MED23 (G107fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 551529	NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)	ARG1, MED23 (G99R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1723397	NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr)	ARG1, MED23	Indel (inframe_indel +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2678300	NM_000045.4(ARG1):c.341_344dup (p.Asp117fs)	ARG1, MED23 (D117fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2390	NM_000045.4(ARG1):c.365G>A (p.Trp122Ter)	ARG1, MED23 (W122* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 1069104	NM_000045.4(ARG1):c.366G>A (p.Trp122Ter)	ARG1, MED23 (W122* +1 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 1030551	NM_000045.4(ARG1):c.370G>T (p.Asp124Tyr)	ARG1, MED23 (D124Y +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678232	NM_000045.4(ARG1):c.374C>T (p.Ala125Val)	ARG1, MED23 (A125V +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 632472	NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)	ARG1, MED23 (D128G +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 802268	NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)	ARG1, MED23 (T135I +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 556022	NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)	ARG1, MED23 (G142E +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GConflicting classifications of pathogenicity
Select item 2710716	NM_000045.4(ARG1):c.435_438dup (p.Phe147fs)	ARG1, MED23 (F155fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2678314	NM_000045.4(ARG1):c.465+1G>A	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 557567	NM_000045.4(ARG1):c.466-2A>G	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 419876	NM_000045.4(ARG1):c.466-1G>C	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency +1 more	GPathogenic
Select item 2678221	NM_000045.4(ARG1):c.491G>A (p.Trp164Ter)	ARG1, MED23 (W164* +1 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GPathogenic
Select item 1075123	NM_000045.4(ARG1):c.492G>A (p.Trp164Ter)	MED23, ARG1 (W164* +1 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 3240321	NM_000045.4(ARG1):c.541_542del (p.Asp181fs)	ARG1, MED23 (D181fs +1 more)	Microsatellite (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 1501863	NM_000045.4(ARG1):c.560+2T>C	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GPathogenic
Select item 2678311	NM_000045.4(ARG1):c.603del (p.Glu202fs)	ARG1, MED23 (E117fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2678286	NM_000045.4(ARG1):c.633del (p.Met212fs)	ARG1, MED23 (M127fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 802269	NM_000045.4(ARG1):c.646_649del (p.Leu216fs)	ARG1, MED23 (L216fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 1523618	NM_000045.4(ARG1):c.665+2T>C	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2678287	NM_000045.4(ARG1):c.666-2A>T	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2678306	NM_000045.4(ARG1):c.679dup (p.Ile227fs)	ARG1, MED23 (I142fs +2 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678312	NM_000045.4(ARG1):c.700G>C (p.Asp234His)	ARG1, MED23 (D149H +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic
Select item 419417	NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)	MED23, ARG1 (G235R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 2391	NM_000045.4(ARG1):c.703G>C (p.Gly235Arg)	ARG1, MED23 (G235R +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic
Select item 2678313	NM_000045.4(ARG1):c.707dup (p.Asp237fs)	ARG1, MED23 (D152fs +2 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 557951	NM_000045.4(ARG1):c.787G>T (p.Glu263Ter)	ARG1, MED23 (E263* +2 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678266	NM_000045.4(ARG1):c.802+2T>C	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2678237	NM_000045.4(ARG1):c.815del (p.Gly272fs)	MED23, ARG1 (G187fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2678317	NM_000045.4(ARG1):c.829del (p.Glu277fs)	ARG1, MED23 (E192fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 1023425	NM_000045.4(ARG1):c.862G>A (p.Glu288Lys)	ARG1, MED23 (E203K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2388	NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)	ARG1, MED23 (R291* +2 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 419034	NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)	ARG1, MED23 (A298P +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 552439	NM_000045.4(ARG1):c.913G>A (p.Gly305Arg)	ARG1, MED23 (G305R +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GConflicting classifications of pathogenicity
Select item 550679	NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)	ARG1, MED23 (R308Q +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic
Select item 459925	NM_000045.4(ARG1):c.938del (p.Lys313fs)	ARG1, MED23 (K313fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 1033383	NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg)	MED23 (L1280R +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GUncertain significance
Select item 1033382	NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu)	MED23 (R1060L +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GUncertain significance
Select item 1032717	NM_004830.4(MED23):c.2832dup (p.Val945fs)	MED23 (V860fs +7 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 18	GPathogenic
Select item 1032715	NM_004830.4(MED23):c.2176A>G (p.Asn726Asp)	MED23 (N641D +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GUncertain significance
Select item 1030847	NM_004830.4(MED23):c.1708T>G (p.Leu570Val)	MED23 (L523V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1029420	NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)	MED23 (P309L +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GLikely pathogenic
Select item 2442027	NM_004830.4(MED23):c.1078-6T>G	MED23	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 18	GConflicting classifications of pathogenicity
Select item 211484	NM_004830.4(MED23):c.235C>T (p.Leu79Phe)	MED23 (L79F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	ARG1, AKAP7 +15 more	Copy number loss	not provided	GLikely pathogenic

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: 56