MTR[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 296534	NM_000254.2(MTR):c.-413C>A	MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 874594	NM_000254.3(MTR):c.-96C>A	MTR	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
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 1227726	NM_000254.3(MTR):c.34+215G>A	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1941334	NM_000254.3(MTR):c.35-20A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GUncertain significance
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 2970647	NM_000254.3(MTR):c.35-14del	MTR	Deletion (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2153990	NM_000254.3(MTR):c.35-12C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 1355331	NM_000254.3(MTR):c.55C>T (p.Arg19Trp)	MTR (R19W)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 2608352	NM_000254.3(MTR):c.56G>A (p.Arg19Gln)	MTR (R19Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2049453	NM_000254.3(MTR):c.63G>C (p.Glu21Asp)	MTR (E21D)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1002650	NM_000254.3(MTR):c.68A>G (p.Asn23Ser)	MTR (N23S)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1367204	NM_000254.3(MTR):c.80A>G (p.Gln27Arg)	MTR (Q27R)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 2979107	NM_000254.3(MTR):c.99G>A (p.Leu33=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	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 2186469	NM_000254.3(MTR):c.126G>A (p.Gln42=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 949756	NM_000254.3(MTR):c.127C>T (p.Arg43Trp)	MTR (R43W)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1411947	NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu)	MTR (R43L)	Indel (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1018994	NM_000254.3(MTR):c.128G>A (p.Arg43Gln)	MTR (R43Q)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 3045511	NM_000254.3(MTR):c.129G>T (p.Arg43=)	MTR	Single nucleotide variant (synonymous variant +1 more)	MTR-related disorder	GLikely benign
Select item 1641964	NM_000254.3(MTR):c.135G>A (p.Lys45=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2103957	NM_000254.3(MTR):c.136C>T (p.Leu46=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2144845	NM_000254.3(MTR):c.141C>T (p.Asn47=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2982725	NM_000254.3(MTR):c.154C>T (p.Arg52Ter)	MTR (R52*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 534573	NM_000254.3(MTR):c.155G>A (p.Arg52Gln)	MTR (R52Q)	Single nucleotide variant (missense variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign/Likely benign
Select item 2331852	NM_000254.3(MTR):c.163G>C (p.Glu55Gln)	MTR (E55Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1668939	NM_000254.3(MTR):c.174T>C (p.Asp58=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2711948	NM_000254.3(MTR):c.177T>C (p.His59=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 1425461	NM_000254.3(MTR):c.179C>G (p.Ala60Gly)	MTR (A60G)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
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 2871025	NM_000254.3(MTR):c.186G>A (p.Pro62=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2979213	NM_000254.3(MTR):c.192A>G (p.Lys64=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2008687	NM_000254.3(MTR):c.194G>A (p.Gly65Asp)	MTR (G65D)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 3015464	NM_000254.3(MTR):c.213T>C (p.Ser71=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2759164	NM_000254.3(MTR):c.225T>G (p.Pro75=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2722262	NM_000254.3(MTR):c.237C>T (p.Tyr79=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2773251	NM_000254.3(MTR):c.240A>G (p.Gln80=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2975443	NM_000254.3(MTR):c.249+11C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2870261	NM_000254.3(MTR):c.249+16del	MTR	Deletion (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2741623	NM_000254.3(MTR):c.249+15G>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2743019	NM_000254.3(MTR):c.249+19C>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2860276	NM_000254.3(MTR):c.249+20C>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 1226852	NM_000254.3(MTR):c.249+244A>T	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3006166	NM_000254.3(MTR):c.250-15A>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2857214	NM_000254.3(MTR):c.250-12C>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2785901	NM_000254.3(MTR):c.250-10C>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
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 2827717	NM_000254.3(MTR):c.250-4dup	MTR	Duplication (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 631597	NM_000254.3(MTR):c.250-1G>C	MTR	Single nucleotide variant (splice acceptor variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 2787915	NM_000254.3(MTR):c.255C>T (p.Tyr85=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 1580160	NM_000254.3(MTR):c.259C>T (p.Leu87=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2882135	NM_000254.3(MTR):c.270A>G (p.Ala90=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2054447	NM_000254.3(MTR):c.271G>C (p.Asp91His)	MTR (D91H)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 2919410	NM_000254.3(MTR):c.294T>C (p.Phe98=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2121593	NM_000254.3(MTR):c.296G>A (p.Ser99Asn)	MTR (S99N)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 2696262	NM_000254.3(MTR):c.313C>T (p.Gln105Ter)	MTR (Q105*)	Single nucleotide variant (5 prime UTR variant +1 more)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 1355744	NM_000254.3(MTR):c.325G>A (p.Gly109Ser)	MTR (G109S)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 3012508	NM_000254.3(MTR):c.327C>T (p.Gly109=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 1620920	NM_000254.3(MTR):c.339+19C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2767509	NM_000254.3(MTR):c.340-166A>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 14281	NM_000254.3(MTR):c.340-166A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 1260063	NM_000254.3(MTR):c.340-21C>T	MTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2729892	NM_000254.3(MTR):c.340-20G>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
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 1016816	NM_000254.3(MTR):c.340-3T>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1062040	NM_000254.3(MTR):c.347G>A (p.Arg116Gln)	MTR (R116Q)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1389985	NM_000254.3(MTR):c.349A>G (p.Met117Val)	MTR (M117V)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +1 more	GUncertain significance
Select item 856482	NM_000254.3(MTR):c.349A>C (p.Met117Leu)	MTR (M117L)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1367180	NM_000254.3(MTR):c.355A>G (p.Met119Val)	MTR (M119V)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1477083	NM_000254.3(MTR):c.356T>C (p.Met119Thr)	MTR (M119T)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 3296753	NM_000254.3(MTR):c.365C>T (p.Ala122Val)	MTR (A122V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2842074	NM_000254.3(MTR):c.375C>T (p.Ala125=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2734111	NM_000254.3(MTR):c.381del (p.Ala128fs)	MTR (A128fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 812985	NM_000254.3(MTR):c.385G>C (p.Ala129Pro)	MTR (A129P)	Single nucleotide variant (missense variant +1 more)	Homocystinuria +1 more	GLikely pathogenic
Select item 2778272	NM_000254.3(MTR):c.387C>A (p.Ala129=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 1620276	NM_000254.3(MTR):c.387C>T (p.Ala129=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG +1 more	GLikely benign
Select item 1522046	NM_000254.3(MTR):c.388G>A (p.Glu130Lys)	MTR (E130K)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 2238133	NM_000254.3(MTR):c.394G>A (p.Val132Ile)	MTR (V132I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2793412	NM_000254.3(MTR):c.399T>C (p.Thr133=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2799548	NM_000254.3(MTR):c.402C>T (p.Leu134=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 296551	NM_000254.3(MTR):c.409+7A>C	MTR	Single nucleotide variant (intron variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 508847	NM_000254.3(MTR):c.409+15_409+17del	MTR	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 2865177	NM_000254.3(MTR):c.409+14T>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 1963324	NM_000254.3(MTR):c.409+17T>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2910579	NM_000254.3(MTR):c.409+25dup	MTR	Duplication (intron variant)	Methylcobalamin deficiency type cblG	GBenign
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 2808841	NM_000254.3(MTR):c.426G>C (p.Val142=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 876527	NM_000254.3(MTR):c.443C>T (p.Pro148Leu)	MTR (P148L)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +2 more	GUncertain significance
Select item 1668878	NM_000254.3(MTR):c.444G>A (p.Pro148=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2919487	NM_000254.3(MTR):c.447T>A (p.Thr149=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign

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