"Counsyl"[submitter] AND "AGA"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552400	NM_000027.4(AGA):c.993T>G (p.Tyr331Ter)	AGA (Y331* +1 more)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 552967	NM_000027.4(AGA):c.941-2A>G	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 555229	NM_000027.4(AGA):c.940+1G>A	AGA	Single nucleotide variant (splice donor variant)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic
Select item 227	NM_000027.4(AGA):c.940+1G>T	AGA	Single nucleotide variant (splice donor variant)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic
Select item 225	NM_000027.4(AGA):c.800dup (p.Pro268fs)	AGA (P258fs +1 more)	Duplication (frameshift variant +1 more)	Aspartylglucosaminuria +2 more	GPathogenic/Likely pathogenic
Select item 371315	NM_000027.4(AGA):c.698+1G>T	AGA	Single nucleotide variant (intron variant +1 more)	Aspartylglucosaminuria	GConflicting classifications of pathogenicity
Select item 55950	NM_000027.4(AGA):c.677G>A (p.Gly226Asp)	AGA (G226D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550044	NM_000027.4(AGA):c.623-2A>G	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 370606	NM_000027.4(AGA):c.537C>A (p.Cys179Ter)	AGA (C179*)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GConflicting classifications of pathogenicity
Select item 373678	NM_000027.4(AGA):c.508-2A>G	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria +1 more	GLikely pathogenic
Select item 55949	NM_000027.4(AGA):c.503G>A (p.Trp168Ter)	AGA (W168*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 371514	NM_000027.4(AGA):c.490C>T (p.Gln164Ter)	AGA (Q164*)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 370266	NM_000027.4(AGA):c.473G>A (p.Trp158Ter)	AGA (W158*)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic
Select item 554413	NM_000027.4(AGA):c.394+19_394+20del	AGA	Deletion (intron variant)	Aspartylglucosaminuria	GBenign/Likely benign
Select item 556567	NM_000027.4(AGA):c.376del (p.Leu126fs)	AGA (L126fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 55944	NM_000027.4(AGA):c.373_376del (p.Thr125fs)	AGA (T125fs)	Microsatellite (frameshift variant +1 more)	Aspartylglucosaminuria	GPathogenic
Select item 557564	NM_000027.4(AGA):c.365C>A (p.Thr122Lys)	AGA (T122K)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GPathogenic/Likely pathogenic
Select item 371375	NM_000027.4(AGA):c.333del (p.Ile112fs)	AGA (I112fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic
Select item 291257	NM_000027.4(AGA):c.319C>T (p.Arg107Ter)	AGA (R107*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 553786	NM_000027.4(AGA):c.308_310del (p.Gly103del)	AGA (G103del)	Deletion (inframe_deletion +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 223	NM_000027.4(AGA):c.302C>T (p.Ala101Val)	AGA (A101V)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GPathogenic/Likely pathogenic
Select item 55940	NM_000027.4(AGA):c.299G>A (p.Gly100Glu)	AGA (G100E)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 550676	NM_000027.4(AGA):c.281+1G>T	AGA	Single nucleotide variant (splice donor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 55939	NM_000027.4(AGA):c.200_201del (p.Glu67fs)	AGA (E67fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550967	NM_000027.4(AGA):c.192del (p.Cys64fs)	AGA (C64fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic
Select item 222	NM_000027.4(AGA):c.179G>A (p.Gly60Asp)	AGA (G60D)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GConflicting classifications of pathogenicity
Select item 370533	NM_000027.4(AGA):c.127+1G>A	AGA	Single nucleotide variant (splice donor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 552792	NM_000027.4(AGA):c.86del (p.Leu29fs)	AGA (L29fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GPathogenic/Likely 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 188964	NM_000027.4(AGA):c.34G>T (p.Val12Leu)	AGA (V12L)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GConflicting classifications of pathogenicity
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 551282	NM_000027.4(AGA):c.3G>C (p.Met1Ile)	AGA (M1I)	Single nucleotide variant (missense variant +2 more)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic
Select item 371140	NM_000027.4(AGA):c.1A>G (p.Met1Val)	AGA (M1V)	Single nucleotide variant (missense variant +2 more)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic

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Items: 33