ClinVar for MedGen (Select 341256) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019497	NM_015506.3(MMACHC):c.429+14T>A	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 3014041	NM_015506.3(MMACHC):c.277-15T>G	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 3010129	NM_015506.3(MMACHC):c.498G>A (p.Leu166=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 3001896	NM_015506.3(MMACHC):c.486G>A (p.Gly162=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2959457	NM_015506.3(MMACHC):c.405G>A (p.Val135=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2958949	NM_015506.3(MMACHC):c.276+17T>C	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2920590	NM_015506.3(MMACHC):c.81+13C>G	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2916912	NM_015506.3(MMACHC):c.81+13C>T	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2916802	NM_015506.3(MMACHC):c.82-16G>C	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2912123	NM_015506.3(MMACHC):c.82-18C>T	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2910972	NM_015506.3(MMACHC):c.276+13C>T	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2909934	NM_015506.3(MMACHC):c.277-14G>A	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2909601	NM_015506.3(MMACHC):c.81+17T>C	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2909136	NM_001330540.2(MMACHC):c.-90del	MMACHC	Deletion (5 prime UTR variant)	Cobalamin C disease	GPathogenic
Select item 2901851	NM_015506.3(MMACHC):c.276+20C>T	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2897032	NM_015506.3(MMACHC):c.430-12C>T	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2894796	NM_015506.3(MMACHC):c.372T>C (p.Ala124=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2894478	NM_015506.3(MMACHC):c.630A>C (p.Thr210=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2884804	NM_015506.3(MMACHC):c.810_811inv (p.Ser271Gly)	MMACHC (S214G +1 more)	Inversion (missense variant)	Cobalamin C disease	GLikely benign
Select item 2884710	NM_015506.3(MMACHC):c.429+14T>C	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2883972	NM_015506.3(MMACHC):c.82-2A>G	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GPathogenic
Select item 2882337	NM_015506.3(MMACHC):c.27G>A (p.Lys9=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2880707	NM_015506.3(MMACHC):c.640dup (p.Arg214fs)	LOC129930446, MMACHC (R157fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2873677	NM_015506.3(MMACHC):c.277-20T>C	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2872315	NM_015506.3(MMACHC):c.165G>T (p.Thr55=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2865655	NM_015506.3(MMACHC):c.360A>C (p.Ala120=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2865526	NM_015506.3(MMACHC):c.846T>C (p.Pro282=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2865376	NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)	MMACHC (L37fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2864862	NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs)	MMACHC (P152fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2864708	NM_015506.3(MMACHC):c.738C>A (p.Pro246=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2864373	NM_015506.3(MMACHC):c.478_481del (p.Ile160fs)	MMACHC (I103fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2864245	NM_015506.3(MMACHC):c.54T>C (p.Pro18=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2856069	NM_015506.3(MMACHC):c.120C>T (p.His40=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2855903	NM_015506.3(MMACHC):c.82-8T>C	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2848787	NM_015506.3(MMACHC):c.549A>C (p.Val183=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2845377	NM_015506.3(MMACHC):c.277-9C>T	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2845371	NM_015506.3(MMACHC):c.30G>A (p.Gln10=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2837080	NM_015506.3(MMACHC):c.276+2del	MMACHC	Deletion (splice donor variant)	Cobalamin C disease	GLikely pathogenic
Select item 2830152	NM_015506.3(MMACHC):c.618G>A (p.Arg206=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2828206	NM_015506.3(MMACHC):c.54T>A (p.Pro18=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2825988	NM_015506.3(MMACHC):c.81+11C>A	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2824664	NM_015506.3(MMACHC):c.36del (p.Ile12fs)	MMACHC (I12fs)	Deletion (5 prime UTR variant +1 more)	Cobalamin C disease	GPathogenic
Select item 2820052	NM_015506.3(MMACHC):c.36C>T (p.Ile12=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2818364	NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)	MMACHC, LOC129930446 (Y148* +1 more)	Duplication (nonsense)	Cobalamin C disease	GPathogenic
Select item 2804095	NM_015506.3(MMACHC):c.312C>T (p.Asp104=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2802055	NM_015506.3(MMACHC):c.264C>T (p.Gly88=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2792238	NM_015506.3(MMACHC):c.277-13T>C	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2789848	NM_015506.3(MMACHC):c.429+13del	MMACHC	Deletion (intron variant)	Cobalamin C disease	GBenign
Select item 2783581	NM_015506.3(MMACHC):c.82-7G>A	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2782219	NM_015506.3(MMACHC):c.46C>T (p.Leu16=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2780580	NM_015506.3(MMACHC):c.75C>T (p.Pro25=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2777775	NM_015506.3(MMACHC):c.430-11C>T	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2758689	NM_015506.3(MMACHC):c.708G>A (p.Leu236=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2756170	NM_015506.3(MMACHC):c.81+15C>T	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2753258	NM_015506.3(MMACHC):c.277-4C>T	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2752289	NM_015506.3(MMACHC):c.429+20T>G	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2741946	NM_015506.3(MMACHC):c.276+13_276+14del	MMACHC	Deletion (intron variant)	Cobalamin C disease	GLikely benign
Select item 2733897	NM_015506.3(MMACHC):c.126_141del (p.Leu43fs)	MMACHC (L43fs)	Deletion (5 prime UTR variant +1 more)	Cobalamin C disease	GPathogenic
Select item 2731539	NM_015506.3(MMACHC):c.153G>A (p.Leu51=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2730558	NM_015506.3(MMACHC):c.430-13A>T	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2726416	NM_015506.3(MMACHC):c.9G>A (p.Pro3=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 2725295	NM_015506.3(MMACHC):c.1A>T (p.Met1Leu)	MMACHC (M1L)	Single nucleotide variant (missense variant +2 more)	Cobalamin C disease	GPathogenic
Select item 2719430	NM_015506.3(MMACHC):c.429+12A>C	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2717233	NM_015506.3(MMACHC):c.93C>A (p.Tyr31Ter)	MMACHC (Y31*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GPathogenic
Select item 2709854	NM_015506.3(MMACHC):c.277-17_277-16insA	MMACHC	Insertion (intron variant)	Cobalamin C disease	GLikely benign
Select item 2709493	NM_015506.3(MMACHC):c.277-1G>A	MMACHC	Single nucleotide variant (splice acceptor variant)	Cobalamin C disease	GLikely pathogenic
Select item 2707694	NM_015506.3(MMACHC):c.678A>C (p.Pro226=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2705858	NM_015506.3(MMACHC):c.848G>A (p.Ter283=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2697327	NM_015506.3(MMACHC):c.771C>T (p.Pro257=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2691699	NM_005050.4(ABCD4):c.1425dup (p.Tyr476fs)	ABCD4 (Y213fs +7 more)	Duplication (frameshift variant +1 more)	Cobalamin C disease	GPathogenic
Select item 2690643	NM_015506.3(MMACHC):c.81+1G>C	MMACHC	Single nucleotide variant (splice donor variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 2689434	NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)	MMACHC (P18S)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 2676632	NM_015506.3(MMACHC):c.634del (p.Gln212fs)	MMACHC, LOC129930446 (Q155fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2676631	NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)	LOC129930446, MMACHC	Deletion (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 2676630	NM_015506.3(MMACHC):c.228_231del (p.Asp77fs)	MMACHC (D20fs +1 more)	Microsatellite (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2676629	NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)	LOC129930446, MMACHC (P169fs +1 more)	Microsatellite (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 2676628	NM_015506.3(MMACHC):c.451_461del (p.His151fs)	MMACHC (H151fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 2676627	NM_015506.3(MMACHC):c.720dup (p.Glu241fs)	MMACHC (E184fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GUncertain significance
Select item 2676626	NM_015506.3(MMACHC):c.189_196dup (p.Phe66fs)	MMACHC (F66fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 2676625	NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer)	MMACHC	Deletion (nonsense)	Cobalamin C disease	GLikely pathogenic
Select item 2676623	NM_015506.3(MMACHC):c.452A>G (p.His151Arg)	MMACHC (H151R +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely pathogenic
Select item 2676622	NM_015506.3(MMACHC):c.430-2A>G	MMACHC	Single nucleotide variant (splice acceptor variant)	Cobalamin C disease	GPathogenic
Select item 2676621	NM_015506.3(MMACHC):c.600del (p.Trp200fs)	LOC129930446, MMACHC (W143fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 2676620	NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)	MMACHC (C125* +1 more)	Duplication (nonsense)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 2676619	NM_015506.3(MMACHC):c.51T>A (p.Cys17Ter)	MMACHC (C17*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely pathogenic
Select item 2672265	NM_015506.3:c.275_278del	MMACHC	Deletion	Cobalamin C disease	GLikely pathogenic
Select item 2627889	NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp)	MMACHC (G105W +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic
Select item 2504062	NM_015702.3(MMADHC):c.202del (p.Gln68fs)	MMADHC (Q68fs)	Deletion (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 2504060	NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs)	MMACHC (N110fs +1 more)	Indel (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2501162	NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)	ABCD4 (P289fs +8 more)	Microsatellite (frameshift variant +1 more)	Cobalamin C disease	GLikely pathogenic
Select item 2445907	NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)	LMBRD1 (Y303* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GLikely pathogenic
Select item 2445824	NM_015702.3(MMADHC):c.9+1G>A	LOC126806368, MMADHC	Single nucleotide variant (splice donor variant)	Cobalamin C disease +1 more	GLikely pathogenic
Select item 2445735	NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)	LOC129930446, MMACHC (Q172* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GLikely pathogenic
Select item 2441748	NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)	MMACHC (A120S +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 2426173	NC_000001.10:g.(?_45966005)_(45977106_?)dup	MMACHC, PRDX1	Duplication	Cobalamin C disease	GUncertain significance
Select item 2418654	NM_015506.3(MMACHC):c.277-6T>C	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GLikely benign
Select item 2417034	NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)	MMACHC (F195L +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 2415062	NM_015506.3(MMACHC):c.591T>C (p.Asn197=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2202759	NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)	MMACHC (G98R +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely pathogenic
Select item 2202756	NM_015506.3(MMACHC):c.14_24del (p.Val5fs)	MMACHC (V5fs)	Deletion (5 prime UTR variant +1 more)	Cobalamin C disease	GPathogenic

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