ClinVar for MedGen (Select 341256) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25040621.	NM_015702.3(MMADHC):c.202del (p.Gln68fs) GRCh37: Chr2:150436115 GRCh38: Chr2:149579601	MMADHC	Q68fs	Cobalamin C disease	Likely pathogenic (Apr 4, 2023)	criteria provided, single submitter
Select item 25040602.	NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs) GRCh37: Chr1:45973928-45973936 GRCh38: Chr1:45508256-45508264	MMACHC	N110fs, N53fs	Cobalamin C disease	Pathogenic (Apr 7, 2023)	criteria provided, single submitter
Select item 25011623.	NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs) GRCh37: Chr14:74754551-74754552 GRCh38: Chr14:74287848-74287849	ABCD4	P289fs, S270fs, S374fs, S378fs, S395fs, S429fs, S446fs, S491fs, S533fs	Cobalamin C disease	Likely pathogenic (Mar 23, 2023)	criteria provided, single submitter
Select item 24459074.	NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter) GRCh37: Chr6:70410717 GRCh38: Chr6:69700825	LMBRD1	Y303, Y376	Cobalamin C disease	Likely pathogenic (Feb 19, 2023)	criteria provided, single submitter
Select item 24458245.	NM_015702.3(MMADHC):c.9+1G>A GRCh37: Chr2:150443602 GRCh38: Chr2:149587088	LOC126806368, MMADHC		Cobalamin C disease	Likely pathogenic (Feb 13, 2023)	criteria provided, single submitter
Select item 24457356.	NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter) GRCh37: Chr1:45974723 GRCh38: Chr1:45509051	MMACHC	Q172, Q229	Cobalamin C disease	Likely pathogenic (Feb 1, 2023)	criteria provided, single submitter
Select item 24417487.	NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser) GRCh37: Chr1:45973965 GRCh38: Chr1:45508293	MMACHC	A120S, A63S	Cobalamin C disease	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 24261738.	NC_000001.10:g.(?_45966005)_(45977106_?)dup GRCh37: Chr1:45966005-45977106	MMACHC, PRDX1		Cobalamin C disease	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 24186549.	NM_015506.3(MMACHC):c.277-6T>C GRCh37: Chr1:45973878 GRCh38: Chr1:45508206	MMACHC		Cobalamin C disease	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 241703410.	NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu) GRCh37: Chr1:45974792 GRCh38: Chr1:45509120	MMACHC	F195L, F252L	Cobalamin C disease	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 241506211.	NM_015506.3(MMACHC):c.591T>C (p.Asn197=) GRCh37: Chr1:45974629 GRCh38: Chr1:45508957	MMACHC		Cobalamin C disease	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 220275912.	NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg) GRCh37: Chr1:45974501 GRCh38: Chr1:45508829	MMACHC	G98R, G155R	Cobalamin C disease	Likely pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 220275613.	NM_015506.3(MMACHC):c.14_24del (p.Val5fs) GRCh37: Chr1:45966017-45966027 GRCh38: Chr1:45500345-45500355	MMACHC	V5fs	Cobalamin C disease	Pathogenic (May 28, 2022)	criteria provided, single submitter
Select item 219819714.	NM_015506.3(MMACHC):c.429+20T>C GRCh37: Chr1:45974056 GRCh38: Chr1:45508384	MMACHC		Cobalamin C disease	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 219598915.	NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn) GRCh37: Chr1:45973086 GRCh38: Chr1:45507414	MMACHC	T47N	Inborn genetic diseases, Cobalamin C disease	Uncertain significance (May 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219309116.	NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile) GRCh37: Chr1:45973086 GRCh38: Chr1:45507414	MMACHC	T47I	Cobalamin C disease	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 218816517.	NM_015506.3(MMACHC):c.626T>A (p.Val209Glu) GRCh37: Chr1:45974664 GRCh38: Chr1:45508992	MMACHC	V152E, V209E	Cobalamin C disease, Inborn genetic diseases	Uncertain significance (Aug 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218210218.	NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu) GRCh37: Chr1:45974498 GRCh38: Chr1:45508826	MMACHC	F97L, F154L	Cobalamin C disease	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 217984619.	NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys) GRCh37: Chr1:45973211 GRCh38: Chr1:45507539	MMACHC	R32C, R89C	Cobalamin C disease	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 217751320.	NM_015506.3(MMACHC):c.276+5G>A GRCh37: Chr1:45973227 GRCh38: Chr1:45507555	MMACHC		Cobalamin C disease	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 217676821.	NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu) GRCh37: Chr1:45974781 GRCh38: Chr1:45509109	MMACHC	P248L, P191L	Cobalamin C disease	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 217503422.	NM_015506.3(MMACHC):c.642C>A (p.Arg214=) GRCh37: Chr1:45974680 GRCh38: Chr1:45509008	MMACHC		Cobalamin C disease	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 216737123.	NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu) GRCh37: Chr1:45974541 GRCh38: Chr1:45508869	MMACHC	G111E, G168E	Cobalamin C disease	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 216710524.	NM_015506.3(MMACHC):c.423G>T (p.Gly141=) GRCh37: Chr1:45974030 GRCh38: Chr1:45508358	MMACHC		Cobalamin C disease	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 216475025.	NM_015506.3(MMACHC):c.82-17T>C GRCh37: Chr1:45973011 GRCh38: Chr1:45507339	MMACHC		Cobalamin C disease	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 216033426.	NM_015506.3(MMACHC):c.429+18_429+21del GRCh37: Chr1:45974052-45974055 GRCh38: Chr1:45508380-45508383	MMACHC		Cobalamin C disease	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 215770027.	NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser) GRCh37: Chr1:45974739 GRCh38: Chr1:45509067	MMACHC	L177S, L234S	Cobalamin C disease	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 215316528.	NM_015506.3(MMACHC):c.588C>T (p.Phe196=) GRCh37: Chr1:45974626 GRCh38: Chr1:45508954	MMACHC		Cobalamin C disease	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 214768429.	NM_015506.3(MMACHC):c.343A>G (p.Ile115Val) GRCh37: Chr1:45973950 GRCh38: Chr1:45508278	MMACHC	I115V, I58V	Inborn genetic diseases, Cobalamin C disease	Uncertain significance (Jul 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214457030.	NM_015506.3(MMACHC):c.441T>C (p.Gly147=) GRCh37: Chr1:45974479 GRCh38: Chr1:45508807	MMACHC		Cobalamin C disease	Likely benign (Feb 13, 2022)	criteria provided, single submitter
Select item 214424431.	NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu) GRCh37: Chr1:45974604 GRCh38: Chr1:45508932	MMACHC	R189L, R132L	Cobalamin C disease	Likely pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 213735932.	NM_015506.3(MMACHC):c.273A>G (p.Arg91=) GRCh37: Chr1:45973219 GRCh38: Chr1:45507547	MMACHC		Cobalamin C disease	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 213093133.	NM_015506.3(MMACHC):c.81+2T>C GRCh37: Chr1:45966087 GRCh38: Chr1:45500415	MMACHC		Cobalamin C disease	Pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 212419334.	NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr) GRCh37: Chr1:45973191 GRCh38: Chr1:45507519	MMACHC	C25Y, C82Y	Cobalamin C disease	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 212226435.	NM_015506.3(MMACHC):c.441T>G (p.Gly147=) GRCh37: Chr1:45974479 GRCh38: Chr1:45508807	MMACHC		Cobalamin C disease	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 212226336.	NM_015506.3(MMACHC):c.438A>G (p.Ser146=) GRCh37: Chr1:45974476 GRCh38: Chr1:45508804	MMACHC		Cobalamin C disease	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 212177937.	NM_015506.3(MMACHC):c.661_664dup (p.Tyr222fs) GRCh37: Chr1:45974698-45974699 GRCh38: Chr1:45509026-45509027	MMACHC	Y165fs, Y222fs	Cobalamin C disease	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 211721338.	NM_015506.3(MMACHC):c.162C>T (p.Ser54=) GRCh37: Chr1:45973108 GRCh38: Chr1:45507436	MMACHC		Cobalamin C disease	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211557839.	NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg) GRCh37: Chr1:45974477 GRCh38: Chr1:45508805	MMACHC	G90R, G147R	Cobalamin C disease	Likely pathogenic (Jul 2, 2022)	criteria provided, single submitter
Select item 211311140.	NM_015506.3(MMACHC):c.297A>C (p.Ile99=) GRCh37: Chr1:45973904 GRCh38: Chr1:45508232	MMACHC		Cobalamin C disease	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 211269341.	NM_015506.3(MMACHC):c.663C>T (p.Ala221=) GRCh37: Chr1:45974701 GRCh38: Chr1:45509029	MMACHC		Cobalamin C disease	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 210919742.	NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del) GRCh37: Chr1:45974751-45974762 GRCh38: Chr1:45509079-45509090	MMACHC		Cobalamin C disease	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 210535943.	NM_015506.3(MMACHC):c.276+9G>A GRCh37: Chr1:45973231 GRCh38: Chr1:45507559	MMACHC		Cobalamin C disease	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 209853944.	NM_015506.3(MMACHC):c.375G>T (p.Gly125=) GRCh37: Chr1:45973982 GRCh38: Chr1:45508310	MMACHC		Cobalamin C disease	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 209841945.	NM_015506.3(MMACHC):c.663C>A (p.Ala221=) GRCh37: Chr1:45974701 GRCh38: Chr1:45509029	MMACHC		Cobalamin C disease	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 208501346.	NM_015506.3(MMACHC):c.385T>C (p.Tyr129His) GRCh37: Chr1:45973992 GRCh38: Chr1:45508320	MMACHC	Y129H, Y72H	Cobalamin C disease	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 207868647.	NM_015506.3(MMACHC):c.266G>A (p.Arg89His) GRCh37: Chr1:45973212 GRCh38: Chr1:45507540	MMACHC	R89H, R32H	Inborn genetic diseases, Cobalamin C disease	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207853548.	NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg) GRCh37: Chr1:45974636 GRCh38: Chr1:45508964	MMACHC	W200R, W143R	Cobalamin C disease	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 207611949.	NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr) GRCh37: Chr1:45974669 GRCh38: Chr1:45508997	MMACHC	P154T, P211T	not provided, Cobalamin C disease	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207558550.	NM_015506.3(MMACHC):c.276+2T>C GRCh37: Chr1:45973224 GRCh38: Chr1:45507552	MMACHC		Cobalamin C disease	Likely pathogenic (Oct 12, 2022)	criteria provided, single submitter
Select item 206881551.	NM_015506.3(MMACHC):c.433del (p.Ile145fs) GRCh37: Chr1:45974471 GRCh38: Chr1:45508799	MMACHC	I145fs, I88fs	Cobalamin C disease	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 205795252.	NM_015506.3(MMACHC):c.430-10C>A GRCh37: Chr1:45974458 GRCh38: Chr1:45508786	MMACHC		Cobalamin C disease	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 205609153.	NM_015506.3(MMACHC):c.441T>A (p.Gly147=) GRCh37: Chr1:45974479 GRCh38: Chr1:45508807	MMACHC		Cobalamin C disease	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 203368554.	NM_015506.3(MMACHC):c.129G>A (p.Leu43=) GRCh37: Chr1:45973075 GRCh38: Chr1:45507403	MMACHC		Cobalamin C disease	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 203336455.	NM_015506.3(MMACHC):c.234A>C (p.Pro78=) GRCh37: Chr1:45973180 GRCh38: Chr1:45507508	MMACHC		Cobalamin C disease	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 203195456.	NM_015506.3(MMACHC):c.189C>T (p.Leu63=) GRCh37: Chr1:45973135 GRCh38: Chr1:45507463	MMACHC		Cobalamin C disease	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 202962557.	NM_015506.3(MMACHC):c.375G>C (p.Gly125=) GRCh37: Chr1:45973982 GRCh38: Chr1:45508310	MMACHC		Cobalamin C disease	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 202778658.	NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer) GRCh37: Chr1:45974514-45974515 GRCh38: Chr1:45508842-45508843	MMACHC		Cobalamin C disease	Pathogenic (Aug 29, 2022)	criteria provided, single submitter
Select item 202587659.	NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg) GRCh37: Chr1:45974885 GRCh38: Chr1:45509213	MMACHC		Cobalamin C disease	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 202452260.	NM_015506.3(MMACHC):c.81+1G>T GRCh37: Chr1:45966086 GRCh38: Chr1:45500414	MMACHC		Cobalamin C disease	Pathogenic (Aug 17, 2022)	criteria provided, single submitter
Select item 202393461.	NM_015506.3(MMACHC):c.277-10A>C GRCh37: Chr1:45973874 GRCh38: Chr1:45508202	MMACHC		Cobalamin C disease	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 201322062.	NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu) GRCh37: Chr1:45974520 GRCh38: Chr1:45508848	MMACHC	R104L, R161L	Cobalamin C disease	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 200363663.	NM_015506.3(MMACHC):c.648dup (p.Glu217fs) GRCh37: Chr1:45974685-45974686 GRCh38: Chr1:45509013-45509014	MMACHC	E160fs, E217fs	Cobalamin C disease	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 200278764.	NM_015506.3(MMACHC):c.432C>T (p.Arg144=) GRCh37: Chr1:45974470 GRCh38: Chr1:45508798	MMACHC		Cobalamin C disease	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 200237665.	NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg) GRCh37: Chr1:45974540 GRCh38: Chr1:45508868	MMACHC	G111R, G168R	Cobalamin C disease	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 199389666.	NM_015506.3(MMACHC):c.276+8A>G GRCh37: Chr1:45973230 GRCh38: Chr1:45507558	MMACHC		Cobalamin C disease	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 199230367.	NM_015506.3(MMACHC):c.602G>A (p.Arg201His) GRCh37: Chr1:45974640 GRCh38: Chr1:45508968	MMACHC	R144H, R201H	Cobalamin C disease, Inborn genetic diseases	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198236668.	NM_015506.3(MMACHC):c.45G>C (p.Thr15=) GRCh37: Chr1:45966049 GRCh38: Chr1:45500377	MMACHC		Cobalamin C disease	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 196940069.	NM_015506.3(MMACHC):c.762A>C (p.Thr254=) GRCh37: Chr1:45974800 GRCh38: Chr1:45509128	MMACHC		Cobalamin C disease	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 195082570.	NM_015506.3(MMACHC):c.789C>T (p.Pro263=) GRCh37: Chr1:45974827 GRCh38: Chr1:45509155	MMACHC		Cobalamin C disease	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 194780971.	NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys) GRCh37: Chr1:45973893 GRCh38: Chr1:45508221	MMACHC	E39K, E96K	Cobalamin C disease	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 194626272.	NM_015506.3(MMACHC):c.164C>T (p.Thr55Met) GRCh37: Chr1:45973110 GRCh38: Chr1:45507438	MMACHC	T55M	Cobalamin C disease	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 194620973.	NM_015506.3(MMACHC):c.579C>T (p.Leu193=) GRCh37: Chr1:45974617 GRCh38: Chr1:45508945	MMACHC		Cobalamin C disease	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 194266574.	NM_015506.3(MMACHC):c.627G>A (p.Val209=) GRCh37: Chr1:45974665 GRCh38: Chr1:45508993	MMACHC		Cobalamin C disease	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 193990175.	NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser) GRCh37: Chr1:45974628 GRCh38: Chr1:45508956	MMACHC	N140S, N197S	Cobalamin C disease	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 193808276.	NM_015506.3(MMACHC):c.151_152del (p.Leu51fs) GRCh37: Chr1:45973097-45973098 GRCh38: Chr1:45507425-45507426	MMACHC	L51fs	Cobalamin C disease	Pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 193548177.	NM_015506.3(MMACHC):c.430-16T>C GRCh37: Chr1:45974452 GRCh38: Chr1:45508780	MMACHC		Cobalamin C disease	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 193452278.	NM_015506.3(MMACHC):c.318G>A (p.Glu106=) GRCh37: Chr1:45973925 GRCh38: Chr1:45508253	MMACHC		Cobalamin C disease	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 192431579.	NM_015506.3(MMACHC):c.684C>T (p.Ala228=) GRCh37: Chr1:45974722 GRCh38: Chr1:45509050	MMACHC		Cobalamin C disease	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 192291480.	NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser) GRCh37: Chr1:45973200 GRCh38: Chr1:45507528	MMACHC	Y28S, Y85S	Cobalamin C disease	Uncertain significance (Sep 3, 2021)	criteria provided, single submitter
Select item 192083381.	NM_015506.3(MMACHC):c.547G>A (p.Val183Ile) GRCh37: Chr1:45974585 GRCh38: Chr1:45508913	MMACHC	V183I, V126I	Cobalamin C disease	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 191938282.	NM_015506.3(MMACHC):c.429+9G>C GRCh37: Chr1:45974045 GRCh38: Chr1:45508373	MMACHC		Cobalamin C disease	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 187836783.	NM_005050.4(ABCD4):c.1118+1G>A GRCh37: Chr14:74758989 GRCh38: Chr14:74292286	ABCD4		Cobalamin C disease	Likely pathogenic (Dec 22, 2022)	criteria provided, single submitter
Select item 172615684.	NM_015506.3(MMACHC):c.143_146del (p.Leu48fs) GRCh37: Chr1:45973088-45973091 GRCh38: Chr1:45507416-45507419	MMACHC	L48fs	Cobalamin C disease	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172428285.	NM_015506.3(MMACHC):c.70del (p.Tyr24fs) GRCh37: Chr1:45966072 GRCh38: Chr1:45500400	MMACHC	Y24fs	Cobalamin C disease	Likely pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 172427486.	NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter) GRCh37: Chr1:45973043 GRCh38: Chr1:45507371	MMACHC	E33*	Cobalamin C disease	Likely pathogenic (Nov 8, 2021)	criteria provided, single submitter
Select item 172393787.	NM_015506.3(MMACHC):c.51del (p.Pro18fs) GRCh37: Chr1:45966055 GRCh38: Chr1:45500383	MMACHC	P18fs	Cobalamin C disease	Likely pathogenic (Jan 14, 2022)	criteria provided, single submitter
Select item 172240788.	NC_000014.8:g.(74764773_74766250)_(74769768_?)del GRCh37: Chr14:74764773-74769768	ABCD4		Cobalamin C disease	Likely pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 171769089.	NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser) GRCh37: Chr1:45974867 GRCh38: Chr1:45509195	MMACHC	P220S, P277S	Cobalamin C disease	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 171529690.	NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr) GRCh37: Chr1:45973091 GRCh38: Chr1:45507419	MMACHC	A49T	Cobalamin C disease	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 170862191.	NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro) GRCh37: Chr1:45974591 GRCh38: Chr1:45508919	MMACHC	T128P, T185P	not provided, Cobalamin C disease	Uncertain significance (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169854092.	NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln) GRCh37: Chr14:74757026 GRCh38: Chr14:74290323	ABCD4	R169Q, R273Q, R277Q, R294Q, R328Q, R345Q, R390Q, R432Q	Cobalamin C disease	Likely pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 169390493.	NM_015506.3(MMACHC):c.222G>C (p.Met74Ile) GRCh37: Chr1:45973168 GRCh38: Chr1:45507496	MMACHC	M17I, M74I	not provided, Cobalamin C disease	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 168405094.	NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) GRCh37: Chr1:45973903 GRCh38: Chr1:45508231	MMACHC	I42T, I99T	not provided, Cobalamin C disease	Uncertain significance (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168336295.	NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs) GRCh37: Chr6:70407475-70407476 GRCh38: Chr6:69697583-69697584	LMBRD1	C393fs, C466fs	Cobalamin C disease	Likely pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 166779596.	NM_015506.3(MMACHC):c.288G>A (p.Glu96=) GRCh37: Chr1:45973895 GRCh38: Chr1:45508223	MMACHC		Cobalamin C disease	Likely benign (Dec 30, 2020)	criteria provided, single submitter
Select item 166340397.	NM_015506.3(MMACHC):c.291G>A (p.Leu97=) GRCh37: Chr1:45973898 GRCh38: Chr1:45508226	MMACHC		Cobalamin C disease	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 165222398.	NM_015506.3(MMACHC):c.831T>C (p.Pro277=) GRCh37: Chr1:45974869 GRCh38: Chr1:45509197	MMACHC		Cobalamin C disease	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 164913199.	NM_015506.3(MMACHC):c.546T>C (p.Cys182=) GRCh37: Chr1:45974584 GRCh38: Chr1:45508912	MMACHC		Cobalamin C disease	Likely benign (Oct 3, 2021)	criteria provided, single submitter
Select item 1647673100.	NM_015506.3(MMACHC):c.636G>A (p.Gln212=) GRCh37: Chr1:45974674 GRCh38: Chr1:45509002	MMACHC		Cobalamin C disease	Likely benign (Mar 16, 2022)	criteria provided, single submitter

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