"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MTRR"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 790563	NM_024091.4(FASTKD3):c.1375G>C (p.Glu459Gln)	FASTKD3, MTRR (E459Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771859	NM_024091.4(FASTKD3):c.1296G>T (p.Leu432=)	FASTKD3, MTRR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1166106	NM_002454.3(MTRR):c.-26+755C>A	MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 854617	NM_002454.3(MTRR):c.1A>G (p.Met1Val)	MTRR (M1V)	Single nucleotide variant (missense variant +2 more)	Methylcobalamin deficiency type cblE	GLikely pathogenic
Select item 354342	NM_002454.3(MTRR):c.6G>A (p.Arg2=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE +2 more	GConflicting classifications of pathogenicity
Select item 511486	NM_002454.3(MTRR):c.13C>T (p.Leu5=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1614530	NM_002454.3(MTRR):c.15G>A (p.Leu5=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1651800	NM_002454.3(MTRR):c.16T>C (p.Leu6=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 732139	NM_002454.3(MTRR):c.21A>G (p.Leu7=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1631054	NM_002454.3(MTRR):c.24T>C (p.Tyr8=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2068760	NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)	MTRR (A9G)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GUncertain significance
Select item 764651	NM_002454.3(MTRR):c.27T>C (p.Ala9=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GConflicting classifications of pathogenicity
Select item 1610501	NM_002454.3(MTRR):c.39A>G (p.Gly13=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2895170	NM_002454.3(MTRR):c.51C>T (p.Ala17=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2758186	NM_002454.3(MTRR):c.51C>G (p.Ala17=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1448880	NM_002454.3(MTRR):c.52A>G (p.Ile18Val)	MTRR (I18V)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GUncertain significance
Select item 668491	NM_002454.3(MTRR):c.54C>T (p.Ile18=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2045123	NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)	MTRR (A19T)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 2791365	NM_002454.3(MTRR):c.57A>C (p.Ala19=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 7029	NM_002454.3(MTRR):c.66A>G (p.Ile22Met)	MTRR (I22M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 511005	NM_002454.3(MTRR):c.75A>G (p.Gln25=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GLikely benign
Select item 747164	NM_002454.3(MTRR):c.81G>A (p.Val27=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2181251	NM_002454.3(MTRR):c.83T>C (p.Val28Ala)	MTRR (V28A)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 1125320	NM_002454.3(MTRR):c.84A>G (p.Val28=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1673309	NM_002454.3(MTRR):c.87T>C (p.His29=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 992053	NM_002454.3(MTRR):c.99A>C (p.Ala33=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2102542	NM_002454.3(MTRR):c.102T>C (p.Asp34=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2140214	NM_002454.3(MTRR):c.106C>T (p.His36Tyr)	MTRR (H36Y)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 2050517	NM_002454.3(MTRR):c.108C>T (p.His36=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 937324	NM_002454.3(MTRR):c.109dup (p.Cys37fs)	MTRR (C37fs)	Duplication (frameshift variant +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 2048072	NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)	MTRR (E40D)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 739318	NM_002454.3(MTRR):c.123C>T (p.Ser41=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1445082	NM_002454.3(MTRR):c.127A>G (p.Lys43Glu)	MTRR (K43E)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 2099296	NM_002454.3(MTRR):c.129+7G>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1597654	NM_002454.3(MTRR):c.129+9C>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1137196	NM_002454.3(MTRR):c.129+10G>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1123608	NM_002454.3(MTRR):c.129+10G>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3021553	NM_002454.3(MTRR):c.129+11T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2878437	NM_002454.3(MTRR):c.129+12T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2695059	NM_002454.3(MTRR):c.129+13A>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2147161	NM_002454.3(MTRR):c.129+14C>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1933819	NM_002454.3(MTRR):c.129+15A>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2840679	NM_002454.3(MTRR):c.129+20A>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1589330	NM_002454.3(MTRR):c.129+20A>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2822925	NM_002454.3(MTRR):c.130-20T>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2894779	NM_002454.3(MTRR):c.130-18G>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2823183	NM_002454.3(MTRR):c.130-17A>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2740694	NM_002454.3(MTRR):c.130-14T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1620923	NM_002454.3(MTRR):c.130-12C>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1143169	NM_002454.3(MTRR):c.130-4G>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2756354	NM_002454.3(MTRR):c.130-1G>A	MTRR	Single nucleotide variant (splice acceptor variant)	Methylcobalamin deficiency type cblE	GLikely pathogenic
Select item 2963186	NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)	MTRR (Y44*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 2860065	NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)	MTRR (Y44*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 1983960	NM_002454.3(MTRR):c.132T>C (p.Tyr44=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 731863	NM_002454.3(MTRR):c.138A>G (p.Leu46=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 382989	NM_002454.3(MTRR):c.144C>T (p.Thr48=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2091189	NM_002454.3(MTRR):c.159T>C (p.Leu53=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1089535	NM_002454.3(MTRR):c.162T>C (p.Val54=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2823479	NM_002454.3(MTRR):c.165T>C (p.Val55=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1126934	NM_002454.3(MTRR):c.171T>A (p.Val57=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2823261	NM_002454.3(MTRR):c.177C>T (p.Thr59=)	MTRR	Single nucleotide variant (non-coding transcript variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 389638	NM_002454.3(MTRR):c.177C>G (p.Thr59=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE +2 more	GBenign/Likely benign
Select item 1915987	NM_002454.3(MTRR):c.183C>T (p.Gly61=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 514922	NM_002454.3(MTRR):c.186C>T (p.Thr62=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 794900	NM_002454.3(MTRR):c.195A>G (p.Pro65=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 752707	NM_002454.3(MTRR):c.198C>T (p.Pro66=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2742911	NM_002454.3(MTRR):c.204A>G (p.Thr68=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 354343	NM_002454.3(MTRR):c.208C>T (p.Arg70Cys)	MTRR (R70C)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +2 more	GUncertain significance
Select item 466268	NM_002454.3(MTRR):c.209G>A (p.Arg70His)	MTRR (R70H)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +2 more	GUncertain significance
Select item 354344	NM_002454.3(MTRR):c.210C>G (p.Arg70=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE +2 more	GBenign/Likely benign
Select item 2979271	NM_002454.3(MTRR):c.216T>C (p.Phe72=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 992054	NM_002454.3(MTRR):c.220A>G (p.Lys74Glu)	MTRR (K74E)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 2848981	NM_002454.3(MTRR):c.227del (p.Ile76fs)	MTRR (I76fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 1452568	NM_002454.3(MTRR):c.228dup (p.Gln77fs)	MTRR (Q77fs)	Duplication (frameshift variant +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 933492	NM_002454.3(MTRR):c.230del (p.Gln77fs)	MTRR (Q77fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive +1 more	GPathogenic
Select item 1138691	NM_002454.3(MTRR):c.234C>T (p.Asn78=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2121760	NM_002454.3(MTRR):c.237A>G (p.Gln79=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2048977	NM_002454.3(MTRR):c.240A>G (p.Thr80=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1902039	NM_002454.3(MTRR):c.240A>C (p.Thr80=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1576411	NM_002454.3(MTRR):c.246G>A (p.Pro82=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 706109	NM_002454.3(MTRR):c.246G>C (p.Pro82=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 2148090	NM_002454.3(MTRR):c.253T>G (p.Phe85Val)	MTRR (F85V)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 1131230	NM_002454.3(MTRR):c.261T>C (p.Ala87=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2773206	NM_002454.3(MTRR):c.263del (p.His88fs)	MTRR (H88fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 1637868	NM_002454.3(MTRR):c.264C>T (p.His88=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 904565	NM_002454.3(MTRR):c.268C>T (p.Arg90Trp)	MTRR (R90W)	Single nucleotide variant (missense variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 650561	NM_002454.3(MTRR):c.270del (p.Tyr91fs)	MTRR (Y91fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GPathogenic/Likely pathogenic
Select item 750907	NM_002454.3(MTRR):c.277T>C (p.Leu93=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2714506	NM_002454.3(MTRR):c.279A>G (p.Leu93=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1083997	NM_002454.3(MTRR):c.280C>T (p.Leu94=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 936122	NM_002454.3(MTRR):c.283+1_283+20del	MTRR	Deletion (splice donor variant)	Methylcobalamin deficiency type cblE	GLikely pathogenic
Select item 2005065	NM_002454.3(MTRR):c.283+1G>A	MTRR	Single nucleotide variant (splice donor variant)	Methylcobalamin deficiency type cblE	GLikely pathogenic
Select item 1674225	NM_002454.3(MTRR):c.283+9C>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 1169813	NM_002454.3(MTRR):c.283+9CT[3]	MTRR	Microsatellite (intron variant)	Methylcobalamin deficiency type cblE	GBenign
Select item 2717470	NM_002454.3(MTRR):c.283+13C>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 354345	NM_002454.3(MTRR):c.283+13C>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE +1 more	GConflicting classifications of pathogenicity
Select item 3003258	NM_002454.3(MTRR):c.283+15C>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2990884	NM_002454.3(MTRR):c.284-18T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2912785	NM_002454.3(MTRR):c.284-17del	MTRR	Deletion (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2785988	NM_002454.3(MTRR):c.284-17G>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign

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