Related gene-specific medical variations for Gene (Select 175) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362224	NM_000027.4(AGA):c.21G>T (p.Leu7Phe)	AGA (L7F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246601	NC_000004.11:g.(?_178352862)_(178358693_?)del	AGA	Deletion	Aspartylglucosaminuria	GPathogenic
Select item 3246600	NC_000004.11:g.(?_178352862)_(178360031_?)del	AGA	Deletion	Aspartylglucosaminuria	GPathogenic
Select item 3246599	NC_000004.11:g.(?_178363383)_(178363529_?)del	AGA	Deletion	Aspartylglucosaminuria	GPathogenic
Select item 3246598	NC_000004.11:g.(?_178352862)_(178363529_?)del	AGA	Deletion	Aspartylglucosaminuria	GPathogenic
Select item 3241129	NM_000027.4(AGA):c.472del (p.Trp158fs)	AGA (W158fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 3241121	NM_000027.4(AGA):c.825C>G (p.Tyr275Ter)	AGA (Y265* +1 more)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 3241117	NM_000027.4(AGA):c.127+1G>T	AGA	Single nucleotide variant (splice donor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 3241114	NM_000027.4(AGA):c.110del (p.Lys37fs)	AGA (K37fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 3241084	NM_000027.4(AGA):c.281+1G>A	AGA	Single nucleotide variant (splice donor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 3241081	NM_000027.4(AGA):c.698+2T>G	AGA	Single nucleotide variant (intron variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680823	NM_000027.4(AGA):c.282-2A>G	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680811	NM_000027.4(AGA):c.200_201dup (p.Gln68fs)	AGA (Q68fs)	Microsatellite (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680806	NM_000027.4(AGA):c.735dup (p.Tyr246fs)	AGA (Y236fs +1 more)	Duplication (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680776	NM_000027.4(AGA):c.10A>T (p.Lys4Ter)	AGA (K4*)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680768	NM_000027.4(AGA):c.552del (p.Pro185fs)	AGA (P185fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680765	NM_000027.4(AGA):c.325A>T (p.Lys109Ter)	AGA (K109*)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680761	NM_000027.4(AGA):c.941-1G>T	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680758	NM_000027.4(AGA):c.128-2A>C	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680754	NM_000027.4(AGA):c.595_596del (p.Glu199fs)	AGA (E199fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680747	NM_000027.4(AGA):c.507+1G>C	AGA	Single nucleotide variant (splice donor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2664009	NM_000027.4(AGA):c.722C>A (p.Pro241His)	AGA (P231H +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 2438916	NM_000027.4(AGA):c.1033T>C (p.Cys345Arg)	AGA (C335R +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 991950	NM_000027.4(AGA):c.224T>C (p.Phe75Ser)	AGA (F75S)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 991949	NM_000027.4(AGA):c.334A>G (p.Ile112Val)	AGA (I112V)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 991942	NM_000027.4(AGA):c.*3C>T	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 975324	NM_000027.4(AGA):c.971C>T (p.Thr324Ile)	AGA (T314I +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 931254	NM_000027.4(AGA):c.507+5G>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GUncertain significance
Select item 638395	NM_000027.4(AGA):c.115G>A (p.Ala39Thr)	AGA-DT, AGA (A39T)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 590810	NM_000027.4(AGA):c.121G>T (p.Glu41Ter)	AGA, AGA-DT (E41*)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 371395	NM_000027.4(AGA):c.70del (p.Ser24fs)	AGA, AGA-DT (S24fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 371172	NM_000027.4(AGA):c.28del (p.Leu10fs)	AGA, AGA-DT (L10fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 55954	NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer)	AGA	Deletion (nonsense +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 55951	NM_000027.4(AGA):c.754G>C (p.Gly252Arg)	AGA (G252R +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 55948	NM_000027.4(AGA):c.44T>G (p.Leu15Arg)	AGA, AGA-DT (L15R)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 55946	NM_000027.4(AGA):c.404T>C (p.Phe135Ser)	AGA (F135S)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 55943	NM_000027.4(AGA):c.369_373del (p.His124fs)	AGA (H124fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 55938	NM_000027.4(AGA):c.192T>A (p.Cys64Ter)	AGA (C64*)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 226	NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla)	AGA, AGA-DT	Insertion (inframe_insertion +1 more)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic
Select item 224	NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer)	AGA, AGA-DT	Deletion (nonsense +1 more)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic

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Links from Gene

Items: 40