ClinVar for MedGen (Select 341253) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24452071.	NM_207346.3(TSEN54):c.953del (p.Pro318fs) GRCh37: Chr17:73518112 GRCh38: Chr17:75522031	TSEN54	P318fs	Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 5, Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Sep 4, 2019)	criteria provided, single submitter
Select item 24278602.	NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del) GRCh37: Chr2:150432257-150432259 GRCh38: Chr2:149575743-149575745	MMADHC	E192del	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 24262133.	NC_000002.11:g.(?_150443583)_(150443611_?)del GRCh37: Chr2:150443583-150443611	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Oct 31, 2022)	criteria provided, single submitter
Select item 24208234.	NM_015702.3(MMADHC):c.678C>T (p.Asp226=) GRCh37: Chr2:150427617 GRCh38: Chr2:149571103	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 24166885.	NM_015702.3(MMADHC):c.471G>A (p.Leu157=) GRCh37: Chr2:150432958 GRCh38: Chr2:149576444	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 24154536.	NM_015702.3(MMADHC):c.610-12C>T GRCh37: Chr2:150427697 GRCh38: Chr2:149571183	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 24144717.	NM_015702.3(MMADHC):c.562G>A (p.Val188Ile) GRCh37: Chr2:150432272 GRCh38: Chr2:149575758	MMADHC	V188I	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 22019328.	NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr) GRCh37: Chr2:150436072 GRCh38: Chr2:149579558	MMADHC	C82Y	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 22010459.	NM_015702.3(MMADHC):c.373-5C>A GRCh37: Chr2:150433061 GRCh38: Chr2:149576547	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Oct 24, 2021)	criteria provided, single submitter
Select item 219887310.	NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile) GRCh37: Chr2:150432353 GRCh38: Chr2:149575839	MMADHC	F161I	Methylmalonic aciduria and homocystinuria type cblD, Inborn genetic diseases	Uncertain significance (Apr 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219438711.	NM_015702.3(MMADHC):c.835A>G (p.Ile279Val) GRCh37: Chr2:150426544 GRCh38: Chr2:149570030	MMADHC	I279V	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 216143212.	NM_015702.3(MMADHC):c.373-14C>G GRCh37: Chr2:150433070 GRCh38: Chr2:149576556	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 215455213.	NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly) GRCh37: Chr2:150438646 GRCh38: Chr2:149582132	MMADHC	D50G	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 215110414.	NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala) GRCh37: Chr2:150436145 GRCh38: Chr2:149579631	MMADHC	P58A	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 214458515.	NM_015702.3(MMADHC):c.113G>T (p.Gly38Val) GRCh37: Chr2:150438682 GRCh38: Chr2:149582168	MMADHC	G38V	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 212960516.	NM_015702.3(MMADHC):c.155-10T>C GRCh37: Chr2:150436172 GRCh38: Chr2:149579658	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 211769217.	NM_015702.3(MMADHC):c.723T>G (p.Thr241=) GRCh37: Chr2:150426656 GRCh38: Chr2:149570142	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211315518.	NM_015702.3(MMADHC):c.438A>G (p.Val146=) GRCh37: Chr2:150432991 GRCh38: Chr2:149576477	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 211229019.	NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter) GRCh37: Chr2:150426592 GRCh38: Chr2:149570078	MMADHC	K263*	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 210625620.	NM_015702.3(MMADHC):c.610-9C>G GRCh37: Chr2:150427694 GRCh38: Chr2:149571180	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 209613021.	NM_015702.3(MMADHC):c.546_547del (p.Lys183fs) GRCh37: Chr2:150432287-150432288 GRCh38: Chr2:149575773-149575774	MMADHC	K183fs	Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 208801322.	NM_015702.3(MMADHC):c.252C>T (p.Leu84=) GRCh37: Chr2:150436065 GRCh38: Chr2:149579551	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 207652223.	NM_015702.3(MMADHC):c.184A>G (p.Met62Val) GRCh37: Chr2:150436133 GRCh38: Chr2:149579619	MMADHC	M62V	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 206335724.	NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu) GRCh37: Chr2:150436018 GRCh38: Chr2:149579504	MMADHC	P100L	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 205484325.	NM_015702.3(MMADHC):c.519A>G (p.Leu173=) GRCh37: Chr2:150432315 GRCh38: Chr2:149575801	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 203190826.	NM_015702.3(MMADHC):c.630A>G (p.Glu210=) GRCh37: Chr2:150427665 GRCh38: Chr2:149571151	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 203044427.	NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer) GRCh37: Chr2:150436076-150436077 GRCh38: Chr2:149579562-149579563	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 202369528.	NM_015702.3(MMADHC):c.318T>C (p.Pro106=) GRCh37: Chr2:150435999 GRCh38: Chr2:149579485	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 201955629.	NM_015702.3(MMADHC):c.360G>A (p.Val120=) GRCh37: Chr2:150435957 GRCh38: Chr2:149579443	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 201375230.	NM_015702.3(MMADHC):c.877T>C (p.Leu293=) GRCh37: Chr2:150426502 GRCh38: Chr2:149569988	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 201212831.	NM_015702.3(MMADHC):c.151dup (p.Ile51fs) GRCh37: Chr2:150438643-150438644 GRCh38: Chr2:149582129-149582130	MMADHC	I51fs	Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 200960232.	NM_015702.3(MMADHC):c.478+1G>C GRCh37: Chr2:150432950 GRCh38: Chr2:149576436	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 200503333.	NM_015702.3(MMADHC):c.117G>T (p.Ser39=) GRCh37: Chr2:150438678 GRCh38: Chr2:149582164	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 200326434.	NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser) GRCh37: Chr2:150435955 GRCh38: Chr2:149579441	MMADHC	N121S	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Nov 27, 2021)	criteria provided, single submitter
Select item 200174835.	NM_015702.3(MMADHC):c.192C>T (p.Pro64=) GRCh37: Chr2:150436125 GRCh38: Chr2:149579611	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 198070436.	NM_015702.3(MMADHC):c.537A>C (p.Thr179=) GRCh37: Chr2:150432297 GRCh38: Chr2:149575783	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 196589237.	NM_015702.3(MMADHC):c.138T>C (p.Ala46=) GRCh37: Chr2:150438657 GRCh38: Chr2:149582143	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 196371838.	NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter) GRCh37: Chr2:150436115 GRCh38: Chr2:149579601	MMADHC	Q68*	Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 196179539.	NM_015702.3(MMADHC):c.154+17A>C GRCh37: Chr2:150438624 GRCh38: Chr2:149582110	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 195824540.	NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs) GRCh37: Chr2:150427640-150427641 GRCh38: Chr2:149571126-149571127	MMADHC	G219fs	Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 193572241.	NM_015702.3(MMADHC):c.96G>A (p.Ser32=) GRCh37: Chr2:150438699 GRCh38: Chr2:149582185	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 193530242.	NM_015702.3(MMADHC):c.724C>G (p.Leu242Val) GRCh37: Chr2:150426655 GRCh38: Chr2:149570141	MMADHC	L242V	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 193398843.	NM_015702.3(MMADHC):c.486A>G (p.Glu162=) GRCh37: Chr2:150432348 GRCh38: Chr2:149575834	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 192609444.	NM_015702.3(MMADHC):c.766G>C (p.Val256Leu) GRCh37: Chr2:150426613 GRCh38: Chr2:149570099	MMADHC	V256L	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 191534145.	NM_015702.3(MMADHC):c.111A>C (p.Ser37=) GRCh37: Chr2:150438684 GRCh38: Chr2:149582170	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 171663146.	NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala) GRCh37: Chr2:150426522 GRCh38: Chr2:149570008	MMADHC	D286A	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 167345847.	NM_015702.3(MMADHC):c.714A>C (p.Thr238=) GRCh37: Chr2:150426665 GRCh38: Chr2:149570151	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jan 20, 2021)	criteria provided, single submitter
Select item 167219548.	NM_015702.3(MMADHC):c.885A>C (p.Gly295=) GRCh37: Chr2:150426494 GRCh38: Chr2:149569980	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jul 2, 2021)	criteria provided, single submitter
Select item 166444349.	NM_015702.3(MMADHC):c.456A>G (p.Thr152=) GRCh37: Chr2:150432973 GRCh38: Chr2:149576459	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Dec 22, 2020)	criteria provided, single submitter
Select item 166281950.	NM_015702.3(MMADHC):c.48A>C (p.Pro16=) GRCh37: Chr2:150438747 GRCh38: Chr2:149582233	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 165495751.	NM_015702.3(MMADHC):c.479-6T>C GRCh37: Chr2:150432361 GRCh38: Chr2:149575847	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (May 1, 2021)	criteria provided, single submitter
Select item 165281052.	NM_015702.3(MMADHC):c.876A>G (p.Lys292=) GRCh37: Chr2:150426503 GRCh38: Chr2:149569989	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Nov 22, 2021)	criteria provided, single submitter
Select item 165230153.	NM_015702.3(MMADHC):c.478+7C>T GRCh37: Chr2:150432944 GRCh38: Chr2:149576430	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Nov 16, 2020)	criteria provided, single submitter
Select item 165086454.	NM_015702.3(MMADHC):c.9+18T>G GRCh37: Chr2:150443585 GRCh38: Chr2:149587071	LOC126806368, MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 164723355.	NM_015702.3(MMADHC):c.479-7T>C GRCh37: Chr2:150432362 GRCh38: Chr2:149575848	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Nov 2, 2020)	criteria provided, single submitter
Select item 164223456.	NM_015702.3(MMADHC):c.537A>G (p.Thr179=) GRCh37: Chr2:150432297 GRCh38: Chr2:149575783	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jan 8, 2021)	criteria provided, single submitter
Select item 163138557.	NM_015702.3(MMADHC):c.96G>T (p.Ser32=) GRCh37: Chr2:150438699 GRCh38: Chr2:149582185	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jan 19, 2021)	criteria provided, single submitter
Select item 163090058.	NM_015702.3(MMADHC):c.795T>C (p.Ile265=) GRCh37: Chr2:150426584 GRCh38: Chr2:149570070	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 162965159.	NM_015702.3(MMADHC):c.601T>C (p.Leu201=) GRCh37: Chr2:150432233 GRCh38: Chr2:149575719	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Mar 31, 2021)	criteria provided, single submitter
Select item 162750860.	NM_015702.3(MMADHC):c.372+7T>C GRCh37: Chr2:150435938 GRCh38: Chr2:149579424	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Sep 21, 2021)	criteria provided, single submitter
Select item 161758261.	NM_015702.3(MMADHC):c.660T>C (p.Tyr220=) GRCh37: Chr2:150427635 GRCh38: Chr2:149571121	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Nov 11, 2020)	criteria provided, single submitter
Select item 159820262.	NM_015702.3(MMADHC):c.9+12A>C GRCh37: Chr2:150443591 GRCh38: Chr2:149587077	LOC126806368, MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 159707763.	NM_015702.3(MMADHC):c.741A>G (p.Glu247=) GRCh37: Chr2:150426638 GRCh38: Chr2:149570124	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 159341364.	NM_015702.3(MMADHC):c.534A>G (p.Val178=) GRCh37: Chr2:150432300 GRCh38: Chr2:149575786	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 158324865.	NM_015702.3(MMADHC):c.39C>T (p.Ser13=) GRCh37: Chr2:150438756 GRCh38: Chr2:149582242	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 158134466.	NM_015702.3(MMADHC):c.393A>G (p.Glu131=) GRCh37: Chr2:150433036 GRCh38: Chr2:149576522	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jun 14, 2021)	criteria provided, single submitter
Select item 156366967.	NM_015702.3(MMADHC):c.30A>G (p.Arg10=) GRCh37: Chr2:150438765 GRCh38: Chr2:149582251	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Aug 5, 2021)	criteria provided, single submitter
Select item 155644068.	NM_015702.3(MMADHC):c.309A>T (p.Leu103=) GRCh37: Chr2:150436008 GRCh38: Chr2:149579494	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (May 3, 2021)	criteria provided, single submitter
Select item 155601069.	NM_015702.3(MMADHC):c.610-12C>A GRCh37: Chr2:150427697 GRCh38: Chr2:149571183	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Dec 22, 2020)	criteria provided, single submitter
Select item 155181370.	NM_015702.3(MMADHC):c.168G>A (p.Val56=) GRCh37: Chr2:150436149 GRCh38: Chr2:149579635	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Oct 29, 2021)	criteria provided, single submitter
Select item 154820571.	NM_015702.3(MMADHC):c.765T>C (p.Ser255=) GRCh37: Chr2:150426614 GRCh38: Chr2:149570100	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jan 29, 2021)	criteria provided, single submitter
Select item 154200672.	NM_015702.3(MMADHC):c.154+9A>T GRCh37: Chr2:150438632 GRCh38: Chr2:149582118	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 152805873.	NM_015702.3(MMADHC):c.840C>T (p.Phe280=) GRCh37: Chr2:150426539 GRCh38: Chr2:149570025	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Mar 25, 2021)	criteria provided, single submitter
Select item 151147674.	NM_015702.3(MMADHC):c.764_765del (p.Ser255fs) GRCh37: Chr2:150426614-150426615 GRCh38: Chr2:149570100-149570101	MMADHC	S255fs	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 149687675.	NM_015702.3(MMADHC):c.155-3C>T GRCh37: Chr2:150436165 GRCh38: Chr2:149579651	MMADHC		Methylmalonic aciduria and homocystinuria type cblD, Inborn genetic diseases	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148945876.	NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg) GRCh37: Chr2:150432968 GRCh38: Chr2:149576454	MMADHC	P154R	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 148129377.	NM_015702.3(MMADHC):c.373-1G>A GRCh37: Chr2:150433057 GRCh38: Chr2:149576543	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 147260778.	NM_015702.3(MMADHC):c.154+1G>C GRCh37: Chr2:150438640 GRCh38: Chr2:149582126	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 147013979.	NM_015702.3(MMADHC):c.372+1G>A GRCh37: Chr2:150435944 GRCh38: Chr2:149579430	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 145902780.	NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs) GRCh37: Chr2:150427653-150427657 GRCh38: Chr2:149571139-149571143	MMADHC	Y213fs	Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Oct 5, 2021)	criteria provided, single submitter
Select item 145897481.	NC_000002.11:g.(?_150438631)_(150438795_?)del GRCh37: Chr2:150438631-150438795	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 145727182.	NM_015702.3(MMADHC):c.128_129del (p.His43fs) GRCh37: Chr2:150438666-150438667 GRCh38: Chr2:149582152-149582153	MMADHC	H43fs	Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 145625183.	NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter) GRCh37: Chr2:150435965 GRCh38: Chr2:149579451	MMADHC	Q118*	Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 145553984.	NM_015702.3(MMADHC):c.585_588del (p.Arg197fs) GRCh37: Chr2:150432246-150432249 GRCh38: Chr2:149575732-149575735	MMADHC	R197fs	Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Apr 13, 2021)	criteria provided, single submitter
Select item 145230285.	NM_015702.3(MMADHC):c.237T>C (p.Gly79=) GRCh37: Chr2:150436080 GRCh38: Chr2:149579566	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 144594186.	NM_015702.3(MMADHC):c.373-16T>C GRCh37: Chr2:150433072 GRCh38: Chr2:149576558	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Apr 29, 2021)	criteria provided, single submitter
Select item 144128887.	NM_015702.3(MMADHC):c.105A>T (p.Gly35=) GRCh37: Chr2:150438690 GRCh38: Chr2:149582176	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 144025088.	NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg) GRCh37: Chr2:150426571 GRCh38: Chr2:149570057	MMADHC	W270R	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 143615489.	NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter) GRCh37: Chr2:150432996 GRCh38: Chr2:149576482	MMADHC	R145*	Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 143371590.	NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg) GRCh37: Chr2:150436121 GRCh38: Chr2:149579607	MMADHC	G66R	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 143246891.	NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter) GRCh37: Chr2:150427603 GRCh38: Chr2:149571089	MMADHC	L231*	Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 142731392.	NM_015702.3(MMADHC):c.479-11_479-9del GRCh37: Chr2:150432364-150432366 GRCh38: Chr2:149575850-149575852	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 142074293.	NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser) GRCh37: Chr2:150438715 GRCh38: Chr2:149582201	MMADHC	N27S	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 141311794.	NM_015702.3(MMADHC):c.440A>T (p.Glu147Val) GRCh37: Chr2:150432989 GRCh38: Chr2:149576475	MMADHC	E147V	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 138851195.	NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter) GRCh37: Chr2:150427632 GRCh38: Chr2:149571118	MMADHC	W221*	Methylmalonic aciduria and homocystinuria type cblD	Pathogenic (Sep 15, 2021)	criteria provided, single submitter
Select item 138324896.	NM_015702.3(MMADHC):c.73G>C (p.Val25Leu) GRCh37: Chr2:150438722 GRCh38: Chr2:149582208	MMADHC	V25L	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 138240297.	NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr) GRCh37: Chr2:150432995 GRCh38: Chr2:149576481	MMADHC	R145T	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 137657998.	NM_015702.3(MMADHC):c.127C>T (p.His43Tyr) GRCh37: Chr2:150438668 GRCh38: Chr2:149582154	MMADHC	H43Y	Methylmalonic aciduria and homocystinuria type cblD	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 116058099.	NM_015702.3(MMADHC):c.479-4G>A GRCh37: Chr2:150432359 GRCh38: Chr2:149575845	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Jan 27, 2020)	criteria provided, single submitter
Select item 1158008100.	NM_015702.3(MMADHC):c.99T>C (p.Thr33=) GRCh37: Chr2:150438696 GRCh38: Chr2:149582182	MMADHC		Methylmalonic aciduria and homocystinuria type cblD	Likely benign (Mar 7, 2020)	criteria provided, single submitter

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