"Ambry Genetics"[submitter] AND "AGA"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 798466	NM_000027.4(AGA):c.999C>T (p.Ser333=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1105684	NM_000027.4(AGA):c.978T>C (p.Phe326=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 387711	NM_000027.4(AGA):c.965C>T (p.Thr322Ile)	AGA (T322I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1766281	NM_000027.4(AGA):c.923A>G (p.Asn308Ser)	AGA (N298S +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +2 more	GUncertain significance
Select item 1765928	NM_000027.4(AGA):c.913A>T (p.Ile305Leu)	AGA (I305L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231863	NM_000027.4(AGA):c.898T>C (p.Phe300Leu)	AGA (F290L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 785719	NM_000027.4(AGA):c.885G>A (p.Lys295=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 225	NM_000027.4(AGA):c.800dup (p.Pro268fs)	AGA (P258fs +1 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 348230	NM_000027.4(AGA):c.794G>A (p.Arg265His)	AGA (R265H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2412489	NM_000027.4(AGA):c.781G>A (p.Asp261Asn)	AGA (D251N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201852	NM_000027.4(AGA):c.763G>A (p.Ala255Thr)	AGA (A245T +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GUncertain significance
Select item 290584	NM_000027.4(AGA):c.762C>T (p.Ala254=)	AGA	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 2059129	NM_000027.4(AGA):c.481C>T (p.Arg161Trp)	AGA (R161W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2187502	NM_000027.4(AGA):c.428A>G (p.Asn143Ser)	AGA (N143S)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GUncertain significance
Select item 2230781	NM_000027.4(AGA):c.394+1G>A	AGA	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 985108	NM_000027.4(AGA):c.329del (p.Asn110fs)	AGA (N110fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1109980	NM_000027.4(AGA):c.171G>A (p.Val57=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 749329	NM_000027.4(AGA):c.105C>G (p.Pro35=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria +1 more	GLikely benign
Select item 348238	NM_000027.4(AGA):c.60A>G (p.Leu20=)	AGA	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 753524	NM_000027.4(AGA):c.33C>T (p.Leu11=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria +1 more	GLikely benign
Select item 778164	NM_000027.4(AGA):c.24T>C (p.Pro8=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria +2 more	GLikely benign

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Items: 22