"GeneDx"[submitter] AND "MTR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 1279969	NC_000001.11:g.236795083A>C	MTR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1292298	NC_000001.11:g.236795178T>A	MTR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1178608	NC_000001.11:g.236795215C>T	MTR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1249677	NC_000001.11:g.236795232G>T	MTR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 296536	NM_000254.3(MTR):c.-321C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 296538	NM_000254.3(MTR):c.-201C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GBenign/Likely benign
Select item 296541	NM_000254.3(MTR):c.-151C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 296543	NM_000254.3(MTR):c.-111C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GBenign/Likely benign
Select item 296545	NM_000254.3(MTR):c.-67C>T	MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 420357	NM_000254.3(MTR):c.-16GAG[1]	MTR	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 296546	NM_000254.3(MTR):c.-6G>C	MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 452311	NM_000254.3(MTR):c.1_2del (p.Met1fs)	MTR (M1fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 1352967	NM_000254.3(MTR):c.13C>A (p.Leu5Ile)	LOC129932886, MTR (L5I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 296547	NM_000254.3(MTR):c.34+10C>T	LOC129932886, MTR	Single nucleotide variant (intron variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GConflicting classifications of pathogenicity
Select item 1250432	NM_000254.3(MTR):c.34+45C>T	LOC129932886, MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321483	NM_000254.3(MTR):c.34+139C>T	LOC129932886, MTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227726	NM_000254.3(MTR):c.34+215G>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384554	NM_000254.3(MTR):c.35-19A>G	MTR	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 391043	NM_000254.3(MTR):c.108G>A (p.Gly36=)	MTR	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2580055	NM_000254.3(MTR):c.118A>G (p.Met40Val)	MTR (M40V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 534573	NM_000254.3(MTR):c.155G>A (p.Arg52Gln)	MTR (R52Q)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +2 more	GBenign/Likely benign
Select item 296549	NM_000254.3(MTR):c.181A>C (p.Arg61=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG +2 more	GConflicting classifications of pathogenicity
Select item 1226852	NM_000254.3(MTR):c.249+244A>T	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 296550	NM_000254.3(MTR):c.250-7G>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG +4 more	GBenign/Likely benign
Select item 1260063	NM_000254.3(MTR):c.340-21C>T	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138287	NM_000254.3(MTR):c.340-6C>T	MTR	Single nucleotide variant (intron variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign
Select item 508847	NM_000254.3(MTR):c.409+15_409+17del	MTR	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 1232929	NM_000254.3(MTR):c.409+113A>G	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266169	NM_000254.3(MTR):c.409+234C>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230762	NM_000254.3(MTR):c.409+254G>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202280	NM_000254.3(MTR):c.461C>T (p.Ser154Phe)	MTR (S154F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 508263	NM_000254.3(MTR):c.486G>A (p.Pro162=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG +1 more	GLikely benign
Select item 1252634	NM_000254.3(MTR):c.502+229G>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706169	NM_000254.3(MTR):c.503-5del	MTR	Deletion (intron variant)	not provided	GUncertain significance
Select item 2505864	NM_000254.3(MTR):c.547C>G (p.Leu183Val)	MTR (L183V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 389742	NM_000254.3(MTR):c.609+10G>A	MTR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1265715	NM_000254.3(MTR):c.609+903A>T	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230416	NM_000254.3(MTR):c.609+999T>C	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382575	NM_000254.3(MTR):c.609+1092G>A	MTR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1175676	NM_000254.3(MTR):c.609+1133A>C	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222729	NM_000254.3(MTR):c.609+1365G>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386430	NM_000254.3(MTR):c.639T>C (p.Phe213=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG +1 more	GLikely benign
Select item 296552	NM_000254.3(MTR):c.659G>A (p.Arg220Gln)	MTR (R220Q)	Single nucleotide variant (missense variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GUncertain significance
Select item 381202	NM_000254.3(MTR):c.669+20C>T	MTR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1263040	NM_000254.3(MTR):c.669+32_669+33insGTCT	MTR	Insertion (intron variant)	not provided	GBenign
Select item 1241010	NM_000254.3(MTR):c.670-152A>G	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387066	NM_000254.3(MTR):c.764+6T>C	MTR	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 507437	NM_000254.3(MTR):c.764+16T>C	MTR	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1259112	NM_000254.3(MTR):c.765-234G>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326198	NM_000254.3(MTR):c.765-82A>G	MTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421497	NM_000254.3(MTR):c.765-5del	MTR	Deletion (intron variant)	not specified	GLikely benign
Select item 1700897	NM_000254.3(MTR):c.842A>G (p.Tyr281Cys)	MTR (Y281C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 199000	NM_000254.3(MTR):c.858C>T (p.Pro286=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG +3 more	GBenign/Likely benign
Select item 1276218	NM_000254.3(MTR):c.865+271G>T	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286806	NM_000254.3(MTR):c.866-275G>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181038	NM_000254.3(MTR):c.866-252G>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207815	NM_000254.3(MTR):c.866-94T>C	MTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236260	NM_000254.3(MTR):c.866-40dup	MTR	Duplication (intron variant)	not provided	GBenign
Select item 572316	NM_000254.3(MTR):c.899C>T (p.Thr300Met)	MTR (T300M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 452126	NM_000254.3(MTR):c.901C>G (p.Pro301Ala)	MTR (P301A)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +1 more	GUncertain significance
Select item 1272332	NM_000254.3(MTR):c.928-238C>T	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 296556	NM_000254.3(MTR):c.940G>A (p.Asp314Asn)	MTR (D314N)	Single nucleotide variant (missense variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +3 more	GBenign
Select item 1307923	NM_000254.3(MTR):c.959T>G (p.Val320Gly)	MTR (V320G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1196176	NM_000254.3(MTR):c.996-195A>G	MTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 296557	NM_000254.3(MTR):c.1033G>A (p.Val345Ile)	MTR (V345I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 380596	NM_000254.3(MTR):c.1075+7C>T	MTR	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1326620	NM_000254.3(MTR):c.1075+130G>A	MTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382427	NM_000254.3(MTR):c.1076-11C>T	MTR	Single nucleotide variant (intron variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign/Likely benign
Select item 296558	NM_000254.3(MTR):c.1076-8C>T	MTR	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 296559	NM_000254.3(MTR):c.1080A>G (p.Leu360=)	MTR	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 512657	NM_000254.3(MTR):c.1086C>G (p.Pro362=)	MTR	Single nucleotide variant (intron variant +1 more)	Methylcobalamin deficiency type cblG +1 more	GLikely benign
Select item 296561	NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)	MTR (A381T)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +3 more	GConflicting classifications of pathogenicity
Select item 515764	NM_000254.3(MTR):c.1266A>G (p.Leu422=)	MTR	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 296563	NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr)	MTR (S437Y +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GUncertain significance
Select item 1311222	NM_000254.3(MTR):c.1325C>A (p.Ala442Glu)	MTR (A35E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1248453	NM_000254.3(MTR):c.1329+175G>T	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282437	NM_000254.3(MTR):c.1330-311C>T	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239501	NM_000254.3(MTR):c.1330-169A>G	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513164	NM_000254.3(MTR):c.1395G>A (p.Gly465=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG +1 more	GLikely benign
Select item 296564	NM_000254.3(MTR):c.1437C>T (p.Asp479=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG +3 more	GBenign
Select item 1278171	NM_000254.3(MTR):c.1515+27A>G	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196992	NM_000254.3(MTR):c.1515+102C>T	MTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200226	NM_000254.3(MTR):c.1515+103A>C	MTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261202	NM_000254.3(MTR):c.1515+104T>C	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178281	NM_000254.3(MTR):c.1515+133A>C	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280439	NM_000254.3(MTR):c.1516-271T>C	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194226	NM_000254.3(MTR):c.1516-201G>A	MTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273851	NM_000254.3(MTR):c.1516-93del	MTR	Deletion (intron variant)	not provided	GBenign
Select item 1222808	NM_000254.3(MTR):c.1516-93T>C	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259363	NM_000254.3(MTR):c.1516-91T>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218792	NM_000254.3(MTR):c.1516-83A>C	MTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1060106	NM_000254.3(MTR):c.1594A>G (p.Asn532Asp)	MTR (N125D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1229225	NM_000254.3(MTR):c.1695+95_1695+97del	MTR	Microsatellite (intron variant)	not provided	GBenign
Select item 1178117	NM_000254.3(MTR):c.1695+222C>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255259	NM_000254.3(MTR):c.1695+270G>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232185	NM_000254.3(MTR):c.1696-264GT[11]	MTR	Microsatellite (intron variant)	not provided	GBenign
Select item 1288797	NM_000254.3(MTR):c.1696-264GT[9]	MTR	Microsatellite (intron variant)	not provided	GBenign
Select item 1262193	NM_000254.3(MTR):c.1696-193C>T	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204879	NM_000254.3(MTR):c.1696-143T>C	MTR	Single nucleotide variant (intron variant)	not provided	GLikely benign

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