ClinVar for MedGen (Select 163237) - ClinVar - NCBI

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

Links from MedGen

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500058	NM_139058.3(ARX):c.229G>A (p.Ala77Thr)	ARX (A77T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +4 more	GUncertain significance
Select item 1526401	NM_139058.3(ARX):c.26dup (p.Cys10fs)	ARX (C10fs)	Duplication (frameshift variant)	Partington syndrome	GPathogenic
Select item 1494703	NM_139058.3(ARX):c.994C>G (p.Arg332Gly)	ARX (R332G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GPathogenic/Likely pathogenic
Select item 1328434	NM_139058.3(ARX):c.1495G>A (p.Ala499Thr)	ARX (A499T)	Single nucleotide variant (missense variant)	Partington syndrome	GUncertain significance
Select item 818170	NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)	ARX, LOC109610631	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 588454	NM_139058.3(ARX):c.1450C>T (p.Leu484Phe)	ARX (L484F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +5 more	GUncertain significance
Select item 581240	NM_139058.3(ARX):c.187G>A (p.Ala63Thr)	ARX (A63T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 473008	NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del)	ARX, LOC109610631	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +4 more	GUncertain significance
Select item 234531	NM_139058.3(ARX):c.1170C>T (p.Gly390=)	ARX	Single nucleotide variant (synonymous variant)	Corpus callosum agenesis-abnormal genitalia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 187818	NM_139058.3(ARX):c.260G>C (p.Arg87Pro)	ARX (R87P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GUncertain significance
Select item 157762	NM_139058.3(ARX):c.807C>T (p.Ala269=)	ARX	Single nucleotide variant (synonymous variant)	X-linked lissencephaly with abnormal genitalia +6 more	GBenign/Likely benign
Select item 96455	NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)	ARX, LOC109610631	Duplication (inframe_insertion)	not provided +5 more	GPathogenic
Select item 11187	NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)	ARX, LOC109610631	Duplication (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity