C0268225[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 902807	NM_000027.4(AGA):c.*915G>A	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 902808	NM_000027.4(AGA):c.*882A>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GBenign
Select item 348214	NM_000027.4(AGA):c.*868C>G	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 902809	NM_000027.4(AGA):c.*856C>G	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348215	NM_000027.4(AGA):c.*852C>T	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 900248	NM_000027.4(AGA):c.*851G>A	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348216	NM_000027.4(AGA):c.*850C>T	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348217	NM_000027.4(AGA):c.*819CT[2]	AGA	Microsatellite (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348218	NM_000027.4(AGA):c.*752G>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348219	NM_000027.4(AGA):c.*718G>A	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348220	NM_000027.4(AGA):c.*680G>A	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 900249	NM_000027.4(AGA):c.*635A>G	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 900250	NM_000027.4(AGA):c.*457A>G	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348221	NM_000027.4(AGA):c.*317T>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348222	NM_000027.4(AGA):c.*220G>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901403	NM_000027.4(AGA):c.*219T>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348223	NM_000027.4(AGA):c.*207T>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348224	NM_000027.4(AGA):c.*183A>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 901404	NM_000027.4(AGA):c.*136T>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348225	NM_000027.4(AGA):c.*96A>T	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348226	NM_000027.4(AGA):c.*48G>A	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 901405	NM_000027.4(AGA):c.*35G>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 901960	NM_000027.4(AGA):c.*13G>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348227	NM_000027.4(AGA):c.*8T>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348228	NM_000027.4(AGA):c.1023A>G (p.Glu341=)	AGA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 387711	NM_000027.4(AGA):c.965C>T (p.Thr322Ile)	AGA (T322I +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +3 more	GBenign/Likely benign
Select item 377364	NM_000027.4(AGA):c.902T>C (p.Phe301Ser)	AGA (F301S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
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 901961	NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)	AGA (Y265C +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348229	NM_000027.4(AGA):c.806+13_806+16del	AGA	Deletion (intron variant)	Aspartylglucosaminuria	GConflicting classifications of pathogenicity
Select item 348230	NM_000027.4(AGA):c.794G>A (p.Arg265His)	AGA (R265H +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GUncertain significance
Select item 92310	NM_000027.4(AGA):c.793C>T (p.Arg265Cys)	AGA (R265C +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 (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 348231	NM_000027.4(AGA):c.699-7C>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GUncertain significance
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 716111	NM_000027.4(AGA):c.675T>C (p.Asn225=)	AGA	Single nucleotide variant (synonymous variant)	Aspartylglucosaminuria	GConflicting classifications of pathogenicity
Select item 348232	NM_000027.4(AGA):c.657T>C (p.Ala219=)	AGA	Single nucleotide variant (synonymous variant)	Aspartylglucosaminuria	GConflicting classifications of pathogenicity
Select item 348233	NM_000027.4(AGA):c.623-7C>T	AGA	Single nucleotide variant (intron variant)	AGA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 902865	NM_000027.4(AGA):c.623-13T>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GConflicting classifications of pathogenicity
Select item 348234	NM_000027.4(AGA):c.622+13T>C	AGA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 900308	NM_000027.4(AGA):c.598G>A (p.Asp200Asn)	AGA (D200N)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348235	NM_000027.4(AGA):c.571G>C (p.Asp191His)	AGA (D191H)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
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 900309	NM_000027.4(AGA):c.535T>C (p.Cys179Arg)	AGA (C179R)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 900310	NM_000027.4(AGA):c.449C>T (p.Ala150Val)	AGA (A150V)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 92308	NM_000027.4(AGA):c.446C>G (p.Thr149Ser)	AGA (T149S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 427059	NM_000027.4(AGA):c.436T>G (p.Leu146Val)	AGA (L146V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 650146	NM_000027.4(AGA):c.376C>G (p.Leu126Val)	AGA (L126V)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GUncertain significance
Select item 529230	NM_000027.4(AGA):c.313C>A (p.Leu105Ile)	AGA (L105I)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +2 more	GBenign/Likely benign
Select item 254724	NM_000027.4(AGA):c.303A>T (p.Ala101=)	AGA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 92307	NM_000027.4(AGA):c.281+13T>G	AGA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 901463	NM_000027.4(AGA):c.248G>A (p.Gly83Glu)	AGA (G83E)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 901464	NM_000027.4(AGA):c.178G>A (p.Gly60Ser)	AGA (G60S)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348236	NM_000027.4(AGA):c.95A>C (p.Asn32Thr)	AGA (N32T)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348237	NM_000027.4(AGA):c.92T>C (p.Val31Ala)	AGA (V31A)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348238	NM_000027.4(AGA):c.60A>G (p.Leu20=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria +1 more	GConflicting classifications of pathogenicity
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 902041	NM_000027.4(AGA):c.28C>G (p.Leu10Val)	AGA (L10V)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348239	NM_000027.3(AGA):c.-94G>A	AGA	Single nucleotide variant	Aspartylglucosaminuria	GUncertain significance
Select item 348240	NM_000027.3(AGA):c.-127_-123delGGGAC	AGA	Deletion	Aspartylglucosaminuria	GUncertain significance

ClinVar

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Items: 60