ClinVar for MedGen (Select 431598) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 21363111.	NM_005334.3(HCFC1):c.343G>A (p.Ala115Thr) GRCh37: ChrX:153229735 GRCh38: ChrX:153964284	HCFC1	A115T	Disorders of Intracellular Cobalamin Metabolism	not provided	no assertion provided
Select item 21363102.	NM_005334.3(HCFC1):c.307T>C (p.Tyr103His) GRCh37: ChrX:153230064 GRCh38: ChrX:153964613	HCFC1	Y103H	Disorders of Intracellular Cobalamin Metabolism	not provided	no assertion provided
Select item 21363093.	NM_003442.6(ZNF143):c.1019C>T (p.Thr340Ile) GRCh37: Chr11:9522689 GRCh38: Chr11:9501142	ZNF143	T339I, T340I, T309I	Disorders of Intracellular Cobalamin Metabolism	not provided	no assertion provided
Select item 21363084.	NM_003442.6(ZNF143):c.851T>G (p.Leu284Ter) GRCh37: Chr11:9519231 GRCh38: Chr11:9497684	ZNF143	L284, L253, L283*	Disorders of Intracellular Cobalamin Metabolism	not provided	no assertion provided
Select item 21363075.	NM_005334.3(HCFC1):c.202C>G (p.Gln68Glu) GRCh37: ChrX:153230169 GRCh38: ChrX:153964718	HCFC1	Q68E	Disorders of Intracellular Cobalamin Metabolism	not provided	no assertion provided
Select item 9080216.	NM_002454.3(MTRR):c.*151A>G GRCh37: Chr5:7900322 GRCh38: Chr5:7900209	MTRR		Disorders of Intracellular Cobalamin Metabolism, not provided	Benign/Likely benign (Jan 13, 2019)	criteria provided, multiple submitters, no conflicts
Select item 9080207.	NM_002454.3(MTRR):c.*49A>G GRCh37: Chr5:7900220 GRCh38: Chr5:7900107	MTRR		Disorders of Intracellular Cobalamin Metabolism, not provided	Benign/Likely benign (Jan 13, 2019)	criteria provided, multiple submitters, no conflicts
Select item 9080198.	NM_002454.3(MTRR):c.*48T>C GRCh37: Chr5:7900219 GRCh38: Chr5:7900106	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9080189.	NM_002454.3(MTRR):c.*21G>A GRCh37: Chr5:7900192 GRCh38: Chr5:7900079	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90801710.	NM_002454.3(MTRR):c.2006G>A (p.Ser669Asn) GRCh37: Chr5:7900080 GRCh38: Chr5:7899967	MTRR	S669N	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90794311.	NM_002454.3(MTRR):c.952C>T (p.Pro318Ser) GRCh37: Chr5:7885862 GRCh38: Chr5:7885749	MTRR	P318S	Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90794212.	NM_002454.3(MTRR):c.780+5G>A GRCh37: Chr5:7878440 GRCh38: Chr5:7878327	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90787513.	NM_002454.3(MTRR):c.-26G>T GRCh37: Chr5:7869328 GRCh38: Chr5:7869215	LOC129993631, MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90696814.	NM_002454.3(MTRR):c.716C>T (p.Ser239Phe) GRCh37: Chr5:7878371 GRCh38: Chr5:7878258	MTRR	S239F	Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90696715.	NM_002454.3(MTRR):c.682C>T (p.Leu228Phe) GRCh37: Chr5:7878337 GRCh38: Chr5:7878224	MTRR	L228F	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90688616.	NM_002454.3(MTRR):c.-28T>G GRCh37: Chr5:7869326 GRCh38: Chr5:7869213	LOC129993631, MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90688517.	NM_002454.3(MTRR):c.-31G>A GRCh37: Chr5:7869323 GRCh38: Chr5:7869210	LOC129993631, MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90688418.	NM_002454.3(MTRR):c.-41G>C GRCh37: Chr5:7869313 GRCh38: Chr5:7869200	LOC129993631, MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90601219.	NM_002454.3(MTRR):c.*977T>C GRCh37: Chr5:7901148 GRCh38: Chr5:7901035	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90601120.	NM_002454.3(MTRR):c.*935T>G GRCh37: Chr5:7901106 GRCh38: Chr5:7900993	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90601021.	NM_002454.3(MTRR):c.*935T>C GRCh37: Chr5:7901106 GRCh38: Chr5:7900993	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90600922.	NM_002454.3(MTRR):c.*717C>A GRCh37: Chr5:7900888 GRCh38: Chr5:7900775	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90594723.	NM_002454.3(MTRR):c.1944T>C (p.Tyr648=) GRCh37: Chr5:7897352 GRCh38: Chr5:7897239	MTRR		Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 90594624.	NM_002454.3(MTRR):c.1827C>G (p.Phe609Leu) GRCh37: Chr5:7897235 GRCh38: Chr5:7897122	MTRR	F609L	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90594525.	NM_002454.3(MTRR):c.1793A>G (p.Lys598Arg) GRCh37: Chr5:7897201 GRCh38: Chr5:7897088	MTRR	K598R	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90549926.	NM_002454.3(MTRR):c.*693G>T GRCh37: Chr5:7900864 GRCh38: Chr5:7900751	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90549827.	NM_002454.3(MTRR):c.*648C>A GRCh37: Chr5:7900819 GRCh38: Chr5:7900706	MTRR		Disorders of Intracellular Cobalamin Metabolism	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90549728.	NM_002454.3(MTRR):c.*569A>G GRCh37: Chr5:7900740 GRCh38: Chr5:7900627	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90542729.	NM_002454.3(MTRR):c.1563C>T (p.Ser521=) GRCh37: Chr5:7895852 GRCh38: Chr5:7895739	MTRR		Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE	Conflicting interpretations of pathogenicity (Aug 5, 2022)	criteria provided, conflicting interpretations
Select item 90535430.	NM_002454.3(MTRR):c.503C>T (p.Pro168Leu) GRCh37: Chr5:7878158 GRCh38: Chr5:7878045	MTRR	P168L	Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90535331.	NM_002454.3(MTRR):c.365A>G (p.His122Arg) GRCh37: Chr5:7875452 GRCh38: Chr5:7875339	MTRR	H122R	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90471232.	NM_002454.3(MTRR):c.*490A>G GRCh37: Chr5:7900661 GRCh38: Chr5:7900548	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90471133.	NM_002454.3(MTRR):c.*461T>C GRCh37: Chr5:7900632 GRCh38: Chr5:7900519	MTRR		Disorders of Intracellular Cobalamin Metabolism	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90471034.	NM_002454.3(MTRR):c.*401T>C GRCh37: Chr5:7900572 GRCh38: Chr5:7900459	MTRR		Disorders of Intracellular Cobalamin Metabolism	Benign (Dec 19, 2017)	criteria provided, single submitter
Select item 90470935.	NM_002454.3(MTRR):c.*222A>C GRCh37: Chr5:7900393 GRCh38: Chr5:7900280	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90470836.	NM_002454.3(MTRR):c.*163C>T GRCh37: Chr5:7900334 GRCh38: Chr5:7900221	MTRR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90464137.	NM_002454.3(MTRR):c.1203A>G (p.Leu401=) GRCh37: Chr5:7889264 GRCh38: Chr5:7889151	MTRR		Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE	Conflicting interpretations of pathogenicity (Apr 29, 2021)	criteria provided, conflicting interpretations
Select item 90456538.	NM_002454.3(MTRR):c.268C>T (p.Arg90Trp) GRCh37: Chr5:7873624 GRCh38: Chr5:7873511	MTRR	R90W	Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE	Uncertain significance (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90456439.	NM_002454.3(MTRR):c.217G>T (p.Val73Phe) GRCh37: Chr5:7873573 GRCh38: Chr5:7873460	MTRR	V73F	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89464840.	NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg) GRCh37: Chr2:150433056 GRCh38: Chr2:149576542	MMADHC	G125R	Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89375541.	NM_015702.3(MMADHC):c.-136G>C GRCh37: Chr2:150444261 GRCh38: Chr2:149587747	LOC126806368, MMADHC, MMADHC-DT		Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89264242.	NM_015702.3(MMADHC):c.166G>A (p.Val56Met) GRCh37: Chr2:150436151 GRCh38: Chr2:149579637	MMADHC	V56M	Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89260143.	NM_015702.3(MMADHC):c.696+13C>A GRCh37: Chr2:150427586 GRCh38: Chr2:149571072	MMADHC		Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 89260044.	NM_015702.3(MMADHC):c.697-3C>T GRCh37: Chr2:150426685 GRCh38: Chr2:149570171	MMADHC		Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89259945.	NM_015702.3(MMADHC):c.699T>C (p.Phe233=) GRCh37: Chr2:150426680 GRCh38: Chr2:149570166	MMADHC		Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87687246.	NM_000254.3(MTR):c.*6081C>T GRCh37: Chr1:237067025 GRCh38: Chr1:236903725	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87681547.	NM_000254.3(MTR):c.*4724G>C GRCh37: Chr1:237065668 GRCh38: Chr1:236902368	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87681448.	NM_000254.3(MTR):c.*4667C>A GRCh37: Chr1:237065611 GRCh38: Chr1:236902311	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87681349.	NM_000254.3(MTR):c.*4558A>C GRCh37: Chr1:237065502 GRCh38: Chr1:236902202	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87677250.	NM_000254.3(MTR):c.*3554A>T GRCh37: Chr1:237064498 GRCh38: Chr1:236901198	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87677151.	NM_000254.3(MTR):c.*3512G>A GRCh37: Chr1:237064456 GRCh38: Chr1:236901156	MTR		Disorders of Intracellular Cobalamin Metabolism	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87677052.	NM_000254.3(MTR):c.*3389A>G GRCh37: Chr1:237064333 GRCh38: Chr1:236901033	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87671753.	NM_000254.3(MTR):c.*2095G>A GRCh37: Chr1:237063039 GRCh38: Chr1:236899739	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87671654.	NM_000254.3(MTR):c.*1809C>A GRCh37: Chr1:237062753 GRCh38: Chr1:236899453	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87667355.	NM_000254.3(MTR):c.*1004C>T GRCh37: Chr1:237061948 GRCh38: Chr1:236898648	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87667256.	NM_000254.3(MTR):c.*899G>A GRCh37: Chr1:237061843 GRCh38: Chr1:236898543	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87667157.	NM_000254.3(MTR):c.*860A>G GRCh37: Chr1:237061804 GRCh38: Chr1:236898504	MTR		Disorders of Intracellular Cobalamin Metabolism	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87663258.	NM_000254.3(MTR):c.*102G>A GRCh37: Chr1:237061046 GRCh38: Chr1:236897746	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87663159.	NM_000254.3(MTR):c.*56T>A GRCh37: Chr1:237061000 GRCh38: Chr1:236897700	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87663060.	NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) GRCh37: Chr1:237060916 GRCh38: Chr1:236897616	MTR	G1257V, G850V, G1206V	Disorders of Intracellular Cobalamin Metabolism, not provided, Methylcobalamin deficiency type cblG, Inborn genetic diseases	Uncertain significance (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87657461.	NM_000254.3(MTR):c.2859C>G (p.Pro953=) GRCh37: Chr1:237052488 GRCh38: Chr1:236889188	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87657362.	NM_000254.3(MTR):c.2638G>A (p.Val880Ile) GRCh37: Chr1:237044098 GRCh38: Chr1:236880798	MTR	V473I, V829I, V880I	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87653563.	NM_015506.3(MMACHC):c.*1743C>T GRCh37: Chr1:45976630 GRCh38: Chr1:45510958	MMACHC		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87652964.	NM_000254.3(MTR):c.502+13C>T GRCh37: Chr1:236973908 GRCh38: Chr1:236810608	MTR		Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 87652865.	NM_000254.3(MTR):c.450T>C (p.Asn150=) GRCh37: Chr1:236973843 GRCh38: Chr1:236810543	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87652766.	NM_000254.3(MTR):c.443C>T (p.Pro148Leu) GRCh37: Chr1:236973836 GRCh38: Chr1:236810536	MTR	P148L	Disorders of Intracellular Cobalamin Metabolism, See cases	Uncertain significance (Sep 30, 2019)	criteria provided, multiple submitters, no conflicts
Select item 87648967.	NM_015506.3(MMACHC):c.*840T>A GRCh37: Chr1:45975727 GRCh38: Chr1:45510055	MMACHC		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87648868.	NM_015506.3(MMACHC):c.*799T>C GRCh37: Chr1:45975686 GRCh38: Chr1:45510014	MMACHC		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87648769.	NM_015506.3(MMACHC):c.*707G>A GRCh37: Chr1:45975594 GRCh38: Chr1:45509922	MMACHC		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87644870.	NM_015506.3(MMACHC):c.727C>G (p.Pro243Ala) GRCh37: Chr1:45974765 GRCh38: Chr1:45509093	MMACHC	P186A, P243A	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87644771.	NM_015506.3(MMACHC):c.720A>G (p.Ser240=) GRCh37: Chr1:45974758 GRCh38: Chr1:45509086	MMACHC		Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease	Conflicting interpretations of pathogenicity (Aug 21, 2021)	criteria provided, conflicting interpretations
Select item 87644672.	NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala) GRCh37: Chr1:45974714 GRCh38: Chr1:45509042	LOC129930446, MMACHC	P226A, P169A	Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 87644573.	NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys) GRCh37: Chr1:45974603 GRCh38: Chr1:45508931	MMACHC	R132C, R189C	Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 87586974.	NM_000254.3(MTR):c.*5892A>G GRCh37: Chr1:237066836 GRCh38: Chr1:236903536	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87586875.	NM_000254.3(MTR):c.*5756C>G GRCh37: Chr1:237066700 GRCh38: Chr1:236903400	MTR		Disorders of Intracellular Cobalamin Metabolism	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87586776.	NM_000254.3(MTR):c.*5756C>A GRCh37: Chr1:237066700 GRCh38: Chr1:236903400	MTR		Disorders of Intracellular Cobalamin Metabolism	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87582577.	NM_000254.3(MTR):c.*4293C>T GRCh37: Chr1:237065237 GRCh38: Chr1:236901937	MTR		Disorders of Intracellular Cobalamin Metabolism	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87577178.	NM_000254.3(MTR):c.*3298G>A GRCh37: Chr1:237064242 GRCh38: Chr1:236900942	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87577079.	NM_000254.3(MTR):c.*3169A>T GRCh37: Chr1:237064113 GRCh38: Chr1:236900813	MTR		Disorders of Intracellular Cobalamin Metabolism	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 87571880.	NM_000254.3(MTR):c.*1709C>T GRCh37: Chr1:237062653 GRCh38: Chr1:236899353	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87567881.	NM_000254.3(MTR):c.*841C>T GRCh37: Chr1:237061785 GRCh38: Chr1:236898485	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87567782.	NM_000254.3(MTR):c.*839T>C GRCh37: Chr1:237061783 GRCh38: Chr1:236898483	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87567683.	NM_000254.3(MTR):c.*826G>C GRCh37: Chr1:237061770 GRCh38: Chr1:236898470	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87567584.	NM_000254.3(MTR):c.*813G>T GRCh37: Chr1:237061757 GRCh38: Chr1:236898457	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87567485.	NM_000254.3(MTR):c.*773T>G GRCh37: Chr1:237061717 GRCh38: Chr1:236898417	MTR		Disorders of Intracellular Cobalamin Metabolism	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87558086.	NM_000254.3(MTR):c.2593A>G (p.Lys865Glu) GRCh37: Chr1:237038145 GRCh38: Chr1:236874845	MTR	K458E, K814E, K865E	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87557987.	NM_000254.3(MTR):c.2328G>T (p.Val776=) GRCh37: Chr1:237026777 GRCh38: Chr1:236863477	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87552688.	NM_015506.3(MMACHC):c.*1622T>C GRCh37: Chr1:45976509 GRCh38: Chr1:45510837	MMACHC		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87547289.	NM_015506.3(MMACHC):c.*624T>G GRCh37: Chr1:45975511 GRCh38: Chr1:45509839	MMACHC		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87547190.	NM_015506.3(MMACHC):c.*467G>A GRCh37: Chr1:45975354 GRCh38: Chr1:45509682	MMACHC		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87547091.	NM_015506.3(MMACHC):c.*438C>G GRCh37: Chr1:45975325 GRCh38: Chr1:45509653	MMACHC		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87546992.	NM_015506.3(MMACHC):c.*402T>C GRCh37: Chr1:45975289 GRCh38: Chr1:45509617	MMACHC		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87541993.	NM_015506.3(MMACHC):c.426C>A (p.Asn142Lys) GRCh37: Chr1:45974033 GRCh38: Chr1:45508361	MMACHC	N142K, N85K	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87541894.	NM_015506.3(MMACHC):c.355A>G (p.Thr119Ala) GRCh37: Chr1:45973962 GRCh38: Chr1:45508290	MMACHC	T62A, T119A	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87541795.	NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) GRCh37: Chr1:45973936 GRCh38: Chr1:45508264	MMACHC	N110S, N53S	Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87535396.	NM_015506.3(MMACHC):c.59G>A (p.Gly20Asp) GRCh37: Chr1:45966063 GRCh38: Chr1:45500391	MMACHC	G20D	Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87494397.	NM_000254.3(MTR):c.*5374C>G GRCh37: Chr1:237066318 GRCh38: Chr1:236903018	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87494298.	NM_000254.3(MTR):c.*5297T>C GRCh37: Chr1:237066241 GRCh38: Chr1:236902941	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87494199.	NM_000254.3(MTR):c.*5204A>G GRCh37: Chr1:237066148 GRCh38: Chr1:236902848	MTR		Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 874890100.	NM_000254.3(MTR):c.*4097C>T GRCh37: Chr1:237065041 GRCh38: Chr1:236901741	MTR		Disorders of Intracellular Cobalamin Metabolism	Benign (Jan 13, 2018)	criteria provided, single submitter

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