"GeneDx"[submitter] AND "LOC109610631"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285808	NM_139058.3(ARX):c.463_465del (p.Ala155del)	ARX, LOC109610631 (A155del)	Deletion (inframe_deletion)	not provided	GBenign
Select item 589881	NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)	ARX, LOC109610631	Deletion (inframe_deletion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 96454	NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)	LOC109610631, ARX	Deletion (inframe_deletion)	Intellectual disability, X-linked, with or without seizures, arx-related +4 more	GBenign/Likely benign
Select item 2572722	NM_139058.3(ARX):c.461C>T (p.Ala154Val)	ARX, LOC109610631 (A154V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96456	NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup)	LOC109610631, ARX	Microsatellite (inframe_insertion)	not provided +2 more	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 1179761	NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del)	ARX, LOC109610631	Deletion (inframe_deletion)	not provided +2 more	GBenign
Select item 3371940	NM_139058.3(ARX):c.419_454del (p.Asp140_Ala151del)	ARX, LOC109610631	Deletion	not provided	GUncertain significance
Select item 157758	NM_139058.3(ARX):c.454G>A (p.Ala152Thr)	LOC109610631, ARX (A152T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 241850	NM_139058.3(ARX):c.453G>C (p.Ala151=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GLikely benign
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
Select item 1235070	NM_139058.3(ARX):c.428_451del (p.Gly143_Ala150del)	ARX, LOC109610631	Deletion (inframe_deletion)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GBenign/Likely benign
Select item 288382	NM_139058.3(ARX):c.447G>C (p.Ala149=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 210333	NM_139058.3(ARX):c.441A>G (p.Ala147=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1395120	NM_139058.3(ARX):c.430G>T (p.Ala144Ser)	ARX, LOC109610631 (A144S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GUncertain significance
Select item 388333	NM_139058.3(ARX):c.409G>A (p.Glu137Lys)	LOC109610631, ARX (E137K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1327827	NM_139058.3(ARX):c.406G>A (p.Gly136Arg)	ARX, LOC109610631 (G136R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961397	NM_139058.3(ARX):c.398C>T (p.Ala133Val)	LOC109610631, ARX (A133V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 421425	NM_139058.3(ARX):c.389C>A (p.Pro130Gln)	ARX, LOC109610631 (P130Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1712914	NM_139058.3(ARX):c.388C>A (p.Pro130Thr)	LOC109610631, ARX (P130T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371292	NM_139058.3(ARX):c.346_352delinsGCGGCAG (p.Thr116_Thr118delinsAlaAlaAla)	ARX, LOC109610631	Indel (missense variant)	not provided	GUncertain significance
Select item 424509	NM_139058.3(ARX):c.304_345dup (p.Ala102_Ala115dup)	LOC109610631, ARX	Duplication (inframe_insertion)	not provided	GPathogenic
Select item 1196780	NM_139058.3(ARX):c.337_338insGCG (p.Ala112_Ala113insGly)	ARX, LOC109610631	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 3252464	NM_139058.3(ARX):c.306GGC[16] (p.Ala115_Thr116insAlaAlaAlaAlaAlaAla)	ARX, LOC109610631	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1208549	NM_139058.3(ARX):c.306GGC[15] (p.Ala111_Ala115dup)	ARX, LOC109610631	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 420027	NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup)	ARX, LOC109610631	Microsatellite (inframe_insertion)	Intellectual disability, X-linked, with or without seizures, arx-related +3 more	GConflicting classifications of pathogenicity
Select item 195403	NM_139058.3(ARX):c.336A>G (p.Ala112=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 157755	NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)	ARX, LOC109610631	Microsatellite (inframe_insertion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 11186	NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	ARX, LOC109610631	Microsatellite (inframe_insertion)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 591328	NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del)	ARX, LOC109610631	Microsatellite (inframe_deletion)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GConflicting classifications of pathogenicity
Select item 473009	NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)	ARX, LOC109610631	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +3 more	GConflicting classifications of pathogenicity
Select item 416368	NM_139058.3(ARX):c.306GGC[9] (p.Ala115del)	LOC109610631, ARX (A115del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 195400	NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del)	ARX, LOC109610631	Microsatellite (inframe_deletion)	Intellectual disability, X-linked, with or without seizures, arx-related +3 more	GConflicting classifications of pathogenicity
Select item 157754	NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del)	ARX, LOC109610631	Microsatellite (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 419025	NM_139058.3(ARX):c.303_326dup (p.Ala108_Ala115dup)	ARX, LOC109610631	Duplication (inframe_insertion)	not provided	GPathogenic
Select item 1070790	NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup)	ARX, LOC109610631	Duplication (inframe_insertion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 157753	NM_139058.3(ARX):c.306G>T (p.Ala102=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	epileptic encephalopathy, early infanitle, 1 +4 more	GConflicting classifications of pathogenicity
Select item 210325	NM_139058.3(ARX):c.303A>G (p.Ala101=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 210324	NM_139058.3(ARX):c.300G>A (p.Ala100=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +3 more	GConflicting classifications of pathogenicity

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Items: 40