ClinVar for MedGen (Select 1648391) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065832	NM_017825.3(ADPRS):c.242T>A (p.Met81Lys)	ADPRS (M81K)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 3065831	NM_017825.3(ADPRS):c.238G>T (p.Ala80Ser)	ADPRS (A80S)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 2687771	NM_017825.3(ADPRS):c.545A>G (p.His182Arg)	ADPRS (H182R)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 2583170	NM_017825.3(ADPRS):c.166C>T (p.Gln56Ter)	ADPRS (Q56*)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 2572385	NM_017825.3(ADPRS):c.146del (p.Thr49fs)	ADPRS (T49fs)	Deletion (frameshift variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic
Select item 1683693	NM_017825.3(ADPRS):c.466C>T (p.Arg156Trp)	ADPRS (R156W)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 1683692	NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)	ADPRS (Y346*)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GConflicting classifications of pathogenicity
Select item 1679337	NM_017825.3(ADPRS):c.564C>A (p.Tyr188Ter)	ADPRS (Y188*)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 1679312	NM_017825.3(ADPRS):c.544C>T (p.His182Tyr)	ADPRS (H182Y)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 1029488	NM_017825.3(ADPRS):c.491A>G (p.Tyr164Cys)	ADPRS (Y164C)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 1029487	NM_017825.3(ADPRS):c.384G>A (p.Leu128=)	ADPRS	Single nucleotide variant (synonymous variant)	ADPRS-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1029486	NM_017825.3(ADPRS):c.136G>T (p.Val46Phe)	ADPRS (V46F)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 870372	NM_017825.3(ADPRS):c.639_642del (p.Lys213fs)	ADPRS (K213fs)	Deletion (frameshift variant)	Abdominal distention +8 more	GUncertain significance
Select item 807535	NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn)	ADPRS	Deletion (inframe_indel)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures +1 more	GLikely pathogenic
Select item 804377	NM_017825.3(ADPRS):c.169_170del (p.Leu58fs)	ADPRS (L58fs)	Microsatellite (frameshift variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 801466	NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro)	ADPRS (L162P)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 599344	NM_017825.3(ADPRS):c.292del (p.Val98fs)	ADPRS (V98fs)	Deletion (frameshift variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic
Select item 599343	NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)	ADPRS (V335G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 590303	NM_017825.3(ADPRS):c.100G>A (p.Asp34Asn)	ADPRS (D34N)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic
Select item 590302	NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)	ADPRS (S177L)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 590301	NM_017825.3(ADPRS):c.414_418del (p.Ala139fs)	ADPRS (A139fs)	Deletion (frameshift variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic
Select item 590300	NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro)	ADPRS (T79P)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic/Likely pathogenic
Select item 590299	NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)	ADPRS (Q106*)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 590298	NM_017825.3(ADPRS):c.1000C>T (p.Gln334Ter)	ADPRS (Q334*)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GPathogenic

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Items: 24