ClinVar for MedGen (Select 375832) - ClinVar

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

Links from MedGen

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066286	NM_139058.3(ARX):c.557dup (p.Pro187fs)	ARX (P187fs)	Duplication (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 2581045	NM_139058.3(ARX):c.821dup (p.Ala275fs)	ARX (A275fs)	Duplication (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GLikely pathogenic
Select item 2500058	NM_139058.3(ARX):c.229G>A (p.Ala77Thr)	ARX (A77T)	Single nucleotide variant (missense variant)	Partington syndrome +4 more	GUncertain significance
Select item 1526057	NM_139058.3(ARX):c.1206del (p.Pro403fs)	ARX (P403fs)	Deletion (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GLikely pathogenic
Select item 1494703	NM_139058.3(ARX):c.994C>G (p.Arg332Gly)	ARX (R332G)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +4 more	GPathogenic/Likely pathogenic
Select item 1334066	NM_139058.3(ARX):c.74CCT[1] (p.Ser26del)	ARX (S26del)	Microsatellite (inframe_deletion)	X-linked lissencephaly with abnormal genitalia	GUncertain significance
Select item 1031153	NM_139058.3(ARX):c.379C>T (p.Pro127Ser)	ARX, LOC109610631 (P127S)	Single nucleotide variant (missense variant)	X-linked lissencephaly with abnormal genitalia	GUncertain significance
Select item 995570	NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)	ARX (L410fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 945320	NM_139058.3(ARX):c.956C>A (p.Ser319Ter)	ARX (S319*)	Single nucleotide variant (nonsense)	X-linked lissencephaly with abnormal genitalia +2 more	GPathogenic
Select item 689380	NM_139058.3(ARX):c.525C>G (p.Tyr175Ter)	ARX (Y175*)	Single nucleotide variant (nonsense)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 588454	NM_139058.3(ARX):c.1450C>T (p.Leu484Phe)	ARX (L484F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 581240	NM_139058.3(ARX):c.187G>A (p.Ala63Thr)	ARX (A63T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +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 434396	NM_139058.3(ARX):c.1141del (p.Ala381fs)	ARX (A381fs)	Deletion (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 287023	NM_139058.3(ARX):c.790del (p.Arg264fs)	ARX (R264fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 234531	NM_139058.3(ARX):c.1170C>T (p.Gly390=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +6 more	GConflicting classifications of pathogenicity
Select item 210335	NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter)	ARX (A188*)	Indel (nonsense)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 210331	NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup)	LOC109610631, ARX	Duplication (inframe_insertion)	X-linked lissencephaly with abnormal genitalia	GLikely pathogenic
Select item 210330	NM_139058.3(ARX):c.409dup (p.Glu137fs)	ARX, LOC109610631 (E137fs)	Duplication (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 210327	NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)	ARX, LOC109610631	Microsatellite (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +2 more	GPathogenic
Select item 210326	NM_139058.2(ARX):c.304_305ins21 (p.?)	LOC109610631, ARX	Insertion	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 210321	NM_139058.3(ARX):c.1471dup (p.Leu491fs)	ARX (L491fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 210320	NM_139058.3(ARX):c.1449-82_1469dup	ARX	Duplication (splice acceptor variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 210319	NM_139058.3(ARX):c.1337dup (p.Pro447fs)	ARX (P447fs)	Duplication (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 210318	NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs)	ARX (A389fs)	Insertion (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 210317	NM_139058.3(ARX):c.1120-82_1469dup	ARX	Duplication (splice acceptor variant +1 more)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 210316	NM_139058.3(ARX):c.1096del (p.Asp366fs)	ARX (D366fs)	Deletion (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
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 157765	NM_139058.3(ARX):c.995G>T (p.Arg332Leu)	ARX (R332L)	Single nucleotide variant (missense variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 157762	NM_139058.3(ARX):c.807C>T (p.Ala269=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +6 more	GBenign/Likely benign
Select item 157759	NM_139058.3(ARX):c.617del (p.Gly206fs)	ARX (G206fs)	Deletion (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 157756	NM_139058.3(ARX):c.335_368del (p.Ala112fs)	ARX, LOC109610631 (A112fs)	Deletion (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 157748	NM_139058.3(ARX):c.1465del (p.Ala489fs)	ARX (A489fs)	Deletion (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 157746	NM_139058.3(ARX):c.1414C>T (p.Arg472Ter)	ARX (R472*)	Single nucleotide variant (nonsense)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 157744	NM_139058.3(ARX):c.1372del (p.Ala458fs)	ARX (A458fs)	Deletion (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 157741	NM_139058.3(ARX):c.1134C>A (p.Asn378Lys)	ARX (N378K)	Single nucleotide variant (missense variant)	X-linked lissencephaly with abnormal genitalia	GLikely pathogenic
Select item 157740	NM_139058.3(ARX):c.1121T>A (p.Val374Asp)	ARX (V374D)	Single nucleotide variant (missense variant)	X-linked lissencephaly with abnormal genitalia	GLikely pathogenic
Select item 96455	NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)	ARX, LOC109610631	Duplication (inframe_insertion)	Intellectual disability, X-linked, with or without seizures, arx-related +5 more	GPathogenic
Select item 11205	NM_139058.3(ARX):c.232G>T (p.Glu78Ter)	ARX (E78*)	Single nucleotide variant (nonsense)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 11197	NM_139058.3(ARX):c.1028T>A (p.Leu343Gln)	ARX (L343Q)	Single nucleotide variant (missense variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 11195	NG_008281.1:g.(?_4983)_(8028_10643)del	ARX	Deletion	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 11194	NM_139058.3(ARX):c.1187dup (p.Gly397fs)	ARX (G397fs)	Duplication (frameshift variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GPathogenic/Likely pathogenic
Select item 11193	NM_139058.3(ARX):c.1117C>T (p.Gln373Ter)	ARX (Q373*)	Single nucleotide variant (nonsense)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 11192	NM_139058.3(ARX):c.995G>A (p.Arg332His)	ARX (R332H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GPathogenic
Select item 11190	NM_139058.3(ARX):c.424_455del (p.Ala142fs)	ARX, LOC109610631 (A142fs)	Deletion (frameshift variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic
Select item 11186	NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	ARX, LOC109610631	Microsatellite (inframe_insertion)	West syndrome +5 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 46