C1855109[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2983453	NM_172250.3(MMAA):c.6C>T (p.Pro2=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1479375	NM_172250.3(MMAA):c.7A>G (p.Met3Val)	MMAA (M3V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 721629	NM_172250.3(MMAA):c.15A>G (p.Leu5=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1952800	NM_172250.3(MMAA):c.21T>C (p.His7=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1560678	NM_172250.3(MMAA):c.33T>C (p.His11=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1158925	NM_172250.3(MMAA):c.36C>T (p.Phe12=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1151002	NM_172250.3(MMAA):c.39A>C (p.Leu13=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2784202	NM_172250.3(MMAA):c.54A>G (p.Arg18=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 705207	NM_172250.3(MMAA):c.57A>G (p.Ala19=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +1 more	GLikely benign
Select item 218969	NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	MMAA (R22*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic
Select item 1441093	NM_172250.3(MMAA):c.65G>A (p.Arg22Gln)	MMAA (R22Q)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 990262	NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)	MMAA (C23R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2032885	NM_172250.3(MMAA):c.72C>T (p.Tyr24=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 440795	NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)	MMAA (Y24*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +1 more	GPathogenic
Select item 1079818	NM_172250.3(MMAA):c.78C>T (p.Phe26=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1542267	NM_172250.3(MMAA):c.81C>T (p.Ile27=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 990263	NM_172250.3(MMAA):c.86A>G (p.His29Arg)	MMAA (H29R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2697930	NM_172250.3(MMAA):c.96T>A (p.Thr32=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1548143	NM_172250.3(MMAA):c.99T>C (p.His33=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 704775	NM_172250.3(MMAA):c.102C>T (p.Leu34=)	MMAA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1558168	NM_172250.3(MMAA):c.117A>G (p.Pro39=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 554217	NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)	MMAA (Q42*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 1374022	NM_172250.3(MMAA):c.127_134dup (p.Ser46fs)	MMAA (S46fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 347598	NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)	MMAA (P43L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 763758	NM_172250.3(MMAA):c.129G>A (p.Pro43=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 570176	NM_172250.3(MMAA):c.139_140del (p.Leu47fs)	MMAA (L47fs)	Microsatellite (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 262806	NM_172250.3(MMAA):c.138T>C (p.Ser46=)	MMAA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2866984	NM_172250.3(MMAA):c.144A>G (p.Gly48=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1533627	NM_172250.3(MMAA):c.150T>C (p.His50=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3019212	NM_172250.3(MMAA):c.156A>G (p.Thr52=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1154631	NM_172250.3(MMAA):c.159G>A (p.Lys53=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 218970	NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)	MMAA (W54*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 1083032	NM_172250.3(MMAA):c.166C>T (p.Leu56=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1646623	NM_172250.3(MMAA):c.168G>A (p.Leu56=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1533960	NM_172250.3(MMAA):c.168G>T (p.Leu56=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1999235	NM_172250.3(MMAA):c.170del (p.Leu57fs)	MMAA (L57fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 663137	NM_172250.3(MMAA):c.175G>C (p.Asp59His)	MMAA (D59H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 1649533	NM_172250.3(MMAA):c.177T>C (p.Asp59=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2057282	NM_172250.3(MMAA):c.184_185del (p.Lys62fs)	MMAA (K62fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2160127	NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)	MMAA (K62R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2917483	NM_172250.3(MMAA):c.186G>A (p.Lys62=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2920076	NM_172250.3(MMAA):c.195A>G (p.Leu65=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2706447	NM_172250.3(MMAA):c.198T>C (p.Cys66=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2718187	NM_172250.3(MMAA):c.201A>G (p.Val67=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 440796	NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)	MMAA (Q68*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 1623850	NM_172250.3(MMAA):c.204A>G (p.Gln68=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 760064	NM_172250.3(MMAA):c.222C>T (p.His74=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1564541	NM_172250.3(MMAA):c.240T>C (p.Asp80=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1547830	NM_172250.3(MMAA):c.246G>A (p.Glu82=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1151010	NM_172250.3(MMAA):c.255T>C (p.Phe85=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1111725	NM_172250.3(MMAA):c.258G>A (p.Val86=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2816032	NM_172250.3(MMAA):c.264A>G (p.Lys88=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 218971	NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	MMAA (L89P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 990266	NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)	MMAA (Y90F)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GConflicting classifications of pathogenicity
Select item 3158	NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	MMAA (Q95*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +1 more	GPathogenic
Select item 2128629	NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)	MMAA (Q95R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 1656682	NM_172250.3(MMAA):c.288G>A (p.Gly96=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2722410	NM_172250.3(MMAA):c.303A>G (p.Leu101=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 523564	NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)	MMAA (A102T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +4 more	GConflicting classifications of pathogenicity
Select item 961272	NM_172250.3(MMAA):c.314dup (p.Thr106fs)	MMAA (T106fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 1713974	NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)	MMAA (I105T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2849547	NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)	MMAA (E109*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2700678	NM_172250.3(MMAA):c.333T>A (p.Thr111=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2019077	NM_172250.3(MMAA):c.333T>C (p.Thr111=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1482870	NM_172250.3(MMAA):c.335A>G (p.His112Arg)	MMAA (H112R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 1114853	NM_172250.3(MMAA):c.336C>T (p.His112=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1155814	NM_172250.3(MMAA):c.342G>A (p.Arg114=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1981906	NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)	MMAA (K116Q)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 1034449	NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)	MMAA (K116R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1952346	NM_172250.3(MMAA):c.354A>G (p.Leu118=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2832159	NM_172250.3(MMAA):c.357C>T (p.Ala119=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 218972	NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)	MMAA (Q120*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2843794	NM_172250.3(MMAA):c.362T>C (p.Val121Ala)	MMAA (V121A)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 1085902	NM_172250.3(MMAA):c.363G>C (p.Val121=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1455101	NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)	MMAA (L122P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 1634924	NM_172250.3(MMAA):c.369T>G (p.Leu123=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2970756	NM_172250.3(MMAA):c.375A>G (p.Lys125=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1117756	NM_172250.3(MMAA):c.378A>G (p.Val126=)	MMAA	Single nucleotide variant (synonymous variant)	MMAA-related condition +1 more	GLikely benign
Select item 2748122	NM_172250.3(MMAA):c.384T>C (p.Leu128=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2828093	NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)	MMAA (Y129*)	Duplication (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2734674	NM_172250.3(MMAA):c.388del (p.His130fs)	MMAA (H130fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 203814	NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	MMAA (Y129*)	Single nucleotide variant (nonsense)	MMAA-related condition +3 more	GPathogenic
Select item 2965489	NM_172250.3(MMAA):c.390C>T (p.His130=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 990269	NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)	MMAA (R131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1647472	NM_172250.3(MMAA):c.402A>G (p.Glu134=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3011431	NM_172250.3(MMAA):c.405A>G (p.Gln135=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 550209	NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	MMAA (N137fs)	Deletion (frameshift variant)	Methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 1544713	NM_172250.3(MMAA):c.414A>G (p.Lys138=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3160	NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	MMAA (R145*)	Single nucleotide variant (nonsense)	MMAA-related condition +4 more	GPathogenic/Likely pathogenic
Select item 1073197	NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	MMAA (R145Q)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GPathogenic/Likely pathogenic
Select item 549964	NM_172250.3(MMAA):c.439+4_439+7del	MMAA	Deletion (splice donor variant)	Methylmalonic aciduria, cblA type	GConflicting classifications of pathogenicity
Select item 2118571	NM_172250.3(MMAA):c.439+9T>C	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2897320	NM_172250.3(MMAA):c.439+12T>G	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2984337	NM_172250.3(MMAA):c.439+14G>T	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2798686	NM_172250.3(MMAA):c.439+14del	MMAA	Deletion (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2801686	NM_172250.3(MMAA):c.439+16G>C	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2793779	NM_172250.3(MMAA):c.440-19A>C	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1578089	NM_172250.3(MMAA):c.440-17A>T	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1911107	NM_172250.3(MMAA):c.440-10dup	MMAA	Duplication (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2962377	NM_172250.3(MMAA):c.440-9C>A	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign

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