"Baylor Genetics"[submitter] AND "MTRR"[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676862	NM_002454.3(MTRR):c.-25-1G>A	MTRR	Single nucleotide variant (splice acceptor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676870	NM_002454.3(MTRR):c.118G>T (p.Glu40Ter)	MTRR (E40*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676869	NM_002454.3(MTRR):c.129+2T>G	MTRR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676867	NM_002454.3(MTRR):c.130-2A>G	MTRR	Single nucleotide variant (splice acceptor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 1176807	NM_002454.3(MTRR):c.166G>A (p.Val56Met)	MTRR (V56M)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +2 more	GPathogenic/Likely pathogenic
Select item 933492	NM_002454.3(MTRR):c.230del (p.Gln77fs)	MTRR (Q77fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GPathogenic
Select item 2676864	NM_002454.3(MTRR):c.245C>T (p.Pro82Leu)	MTRR (P82L)	Single nucleotide variant (missense variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 650561	NM_002454.3(MTRR):c.270del (p.Tyr91fs)	MTRR (Y91fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive +1 more	GPathogenic/Likely pathogenic
Select item 2676881	NM_002454.3(MTRR):c.276del (p.Leu93fs)	MTRR (L93fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676873	NM_002454.3(MTRR):c.324dup (p.Lys109fs)	MTRR (K109fs)	Duplication (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 809730	NM_002454.3(MTRR):c.324del (p.Lys109fs)	MTRR (K109fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 666994	NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	MTRR (R114*)	Single nucleotide variant (non-coding transcript variant +1 more)	Neural tube defects, folate-sensitive +2 more	GPathogenic
Select item 2676865	NM_002454.3(MTRR):c.358del (p.Ala120fs)	MTRR (A120fs)	Deletion (non-coding transcript variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676875	NM_002454.3(MTRR):c.372T>G (p.Tyr124Ter)	MTRR (Y124*)	Single nucleotide variant (non-coding transcript variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 1347472	NM_002454.3(MTRR):c.401+1G>A	MTRR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive +1 more	GLikely pathogenic
Select item 840253	NM_002454.3(MTRR):c.402-1G>T	MTRR	Single nucleotide variant (splice acceptor variant)	Neural tube defects, folate-sensitive +1 more	GLikely pathogenic
Select item 2676863	NM_002454.3(MTRR):c.440G>A (p.Trp147Ter)	MTRR (W147*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 1033922	NM_002454.3(MTRR):c.485A>G (p.Glu162Gly)	MTRR (E162G)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 2676877	NM_002454.3(MTRR):c.524C>A (p.Ser175Ter)	MTRR (S175*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676876	NM_002454.3(MTRR):c.568C>T (p.Gln190Ter)	MTRR (Q190*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676872	NM_002454.3(MTRR):c.596C>G (p.Ser199Ter)	MTRR (S199*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676882	NM_002454.3(MTRR):c.701dup (p.Leu235fs)	MTRR (L235fs)	Duplication (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 953925	NM_002454.3(MTRR):c.740del (p.Pro247fs)	MTRR (P247fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GPathogenic/Likely pathogenic
Select item 937263	NM_002454.3(MTRR):c.741del (p.Glu248fs)	MTRR (E248fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GPathogenic/Likely pathogenic
Select item 1432431	NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)	MTRR (Q255*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE +1 more	GPathogenic/Likely pathogenic
Select item 841408	NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)	MTRR (E256*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 2627441	NM_002454.3(MTRR):c.781-2A>T	MTRR	Single nucleotide variant (splice acceptor variant)	Methylcobalamin deficiency type cblE +1 more	GConflicting classifications of pathogenicity
Select item 2676886	NM_002454.3(MTRR):c.835del (p.Ser279fs)	MTRR (S279fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 354357	NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)	MTRR (I290T)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +3 more	GConflicting classifications of pathogenicity
Select item 662553	NM_002454.3(MTRR):c.903+469T>C	MTRR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic
Select item 2676868	NM_002454.3(MTRR):c.916dup (p.Ser306fs)	MTRR (S306fs)	Duplication (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676884	NM_002454.3(MTRR):c.1057+1G>A	MTRR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676888	NM_002454.3(MTRR):c.1072del (p.Gln358fs)	MTRR (Q358fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 1958969	NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)	MTRR (R377*)	Single nucleotide variant (non-coding transcript variant +1 more)	Neural tube defects, folate-sensitive +1 more	GPathogenic/Likely pathogenic
Select item 2676871	NM_002454.3(MTRR):c.1146+1G>A	MTRR	Single nucleotide variant (non-coding transcript variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676887	NM_002454.3(MTRR):c.1241del (p.Ser414fs)	MTRR (S414fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 7033	NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)	MTRR (S454L)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +2 more	GPathogenic
Select item 2091091	NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)	MTRR (S458*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive +1 more	GPathogenic/Likely pathogenic
Select item 2166812	NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)	MTRR (V473fs)	Microsatellite (non-coding transcript variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GPathogenic/Likely pathogenic
Select item 7030	NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)	MTRR (G487R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2172212	NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)	MTRR (W492*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE +1 more	GPathogenic/Likely pathogenic
Select item 2676885	NM_002454.3(MTRR):c.1496C>G (p.Ser499Ter)	MTRR (S499*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676879	NM_002454.3(MTRR):c.1508dup (p.Asn504fs)	MTRR (N504fs)	Duplication (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 1466138	NM_002454.3(MTRR):c.1554_1557+3del	MTRR	Deletion (splice donor variant)	Methylcobalamin deficiency type cblE +1 more	GPathogenic/Likely pathogenic
Select item 265421	NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)	MTRR (R525*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 2676880	NM_002454.3(MTRR):c.1599_1606del (p.Asp534fs)	MTRR (D534fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 1033921	NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser)	MTRR (G548S)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 2676889	NM_002454.3(MTRR):c.1669C>T (p.Gln557Ter)	MTRR (Q557*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676861	NM_002454.3(MTRR):c.1672dup (p.His558fs)	MTRR (H558fs)	Duplication (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676866	NM_002454.3(MTRR):c.1677-2A>G	MTRR	Single nucleotide variant (splice acceptor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 631967	NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)	MTRR	Microsatellite (splice acceptor variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2676878	NM_002454.3(MTRR):c.1677-1G>A	MTRR	Single nucleotide variant (splice acceptor variant)	Methylcobalamin deficiency type cblE +1 more	GPathogenic/Likely pathogenic
Select item 835400	NM_002454.3(MTRR):c.1769+1G>A	MTRR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive +1 more	GPathogenic/Likely pathogenic
Select item 523899	NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)	MTRR (R594*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE +2 more	GPathogenic/Likely pathogenic
Select item 2676860	NM_002454.3(MTRR):c.1805_1806delinsAAGATC (p.Leu602Ter)	MTRR (L602*)	Indel (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676883	NM_002454.3(MTRR):c.1943_1944del (p.Tyr648fs)	MTRR (Y648fs)	Deletion (non-coding transcript variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 2676874	NM_002454.3(MTRR):c.1952+1G>A	MTRR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 625702	GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)	ADAMTS16, ADCY2 +40 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 625701	GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	ADAMTS16, ADCY2 +67 more	Copy number loss	5p partial monosomy syndrome	GPathogenic

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Items: 59