ClinVar for MedGen (Select 19244) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25797541.	NM_000277.3(PAH):c.199T>G (p.Ser67Ala) GRCh37: Chr12:103288666 GRCh38: Chr12:102894888	PAH	S67A	Phenylketonuria	Pathogenic (Sep 19, 2023)	criteria provided, single submitter
Select item 25772592.	NM_000277.3(PAH):c.1238_1241delinsCCTG (p.Arg413_Tyr414delinsProCys) GRCh37: Chr12:103234252-103234255 GRCh38: Chr12:102840474-102840477	PAH		Phenylketonuria	Pathogenic (Jul 21, 2023)	criteria provided, single submitter
Select item 25732153.	NM_000277.3(PAH):c.280_283del (p.Ile94fs) GRCh37: Chr12:103288582-103288585 GRCh38: Chr12:102894804-102894807	PAH	I94fs	Phenylketonuria	Pathogenic (Mar 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25732144.	NM_000277.3(PAH):c.229T>C (p.Tyr77His) GRCh37: Chr12:103288636 GRCh38: Chr12:102894858	PAH	Y77H	Phenylketonuria	Uncertain significance (Mar 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25732135.	NM_000277.3(PAH):c.604G>A (p.Ala202Thr) GRCh37: Chr12:103249016 GRCh38: Chr12:102855238	PAH	A202T	Phenylketonuria	Likely pathogenic (Mar 16, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25732126.	NM_000277.3(PAH):c.994G>A (p.Gly332Arg) GRCh37: Chr12:103238185 GRCh38: Chr12:102844407	PAH	G332R	Phenylketonuria	Likely pathogenic (Apr 1, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25732117.	NM_000277.3(PAH):c.586T>A (p.Ser196Thr) GRCh37: Chr12:103249034 GRCh38: Chr12:102855256	PAH	S196T	Phenylketonuria	Uncertain significance (Mar 24, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25039118.	NM_000277.3(PAH):c.733_735delinsCTA (p.Val245Leu) GRCh37: Chr12:103246700-103246702 GRCh38: Chr12:102852922-102852924	PAH	V245L	Phenylketonuria	Pathogenic (Apr 5, 2023)	criteria provided, single submitter
Select item 24981499.	NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn) GRCh37: Chr22:21080781 GRCh38: Chr22:20726493	PI4KA	D1633N, D1642N, D1664N	Phenylketonuria	Uncertain significance (Nov 29, 2022)	no assertion criteria provided
Select item 243242910.	NM_000277.3(PAH):c.350_351del (p.Thr117fs) GRCh37: Chr12:103288514-103288515 GRCh38: Chr12:102894736-102894737	PAH	T117fs	Phenylketonuria	Likely pathogenic (Feb 17, 2023)	criteria provided, single submitter
Select item 243241211.	NM_000277.3(PAH):c.946G>T (p.Glu316Ter) GRCh37: Chr12:103240696 GRCh38: Chr12:102846918	PAH	E316*	Phenylketonuria	Likely pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 243035112.	NM_017739.4(POMGNT1):c.1838G>A (p.Arg613Lys) GRCh37: Chr1:46655187 GRCh38: Chr1:46189515	POMGNT1, TSPAN1	R470K, R591K, R613K	Phenylketonuria	Uncertain significance (Nov 14, 2022)	criteria provided, single submitter
Select item 242822613.	NM_000277.3(PAH):c.471A>G (p.Arg157=) GRCh37: Chr12:103260412 GRCh38: Chr12:102866634	PAH		Phenylketonuria	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 242804314.	NM_000277.3(PAH):c.1210G>T (p.Ala404Ser) GRCh37: Chr12:103234283 GRCh38: Chr12:102840505	PAH	A404S	Phenylketonuria	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 242279115.	NC_000012.11:g.(?_103248776)_(103260427_?)del GRCh37: Chr12:103248776-103260427	PAH		Phenylketonuria	Pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 242279016.	NC_000012.11:g.(?_103288493)_(103352733_?)dup GRCh37: Chr12:103288493-103352733	PAH, ASCL1		Phenylketonuria	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 242278917.	NC_000012.11:g.(?_103260354)_(103260461_?)dup GRCh37: Chr12:103260354-103260461	PAH		Phenylketonuria	Likely pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 242278818.	NC_000012.11:g.(?_103232953)_(103310908_?)dup GRCh37: Chr12:103232953-103310908	PAH		Phenylketonuria	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 242173919.	NM_000277.3(PAH):c.1258A>G (p.Arg420Gly) GRCh37: Chr12:103234235 GRCh38: Chr12:102840457	PAH	R420G	Phenylketonuria	Likely pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 241901620.	NM_000277.3(PAH):c.780C>G (p.Phe260Leu) GRCh37: Chr12:103246655 GRCh38: Chr12:102852877	PAH	F260L	Phenylketonuria	Likely pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 241475521.	NM_000277.3(PAH):c.1199+9G>C GRCh37: Chr12:103237415 GRCh38: Chr12:102843637	PAH		Phenylketonuria	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 220055322.	NM_000277.3(PAH):c.752C>T (p.Ser251Phe) GRCh37: Chr12:103246683 GRCh38: Chr12:102852905	PAH	S251F	Phenylketonuria	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 219251923.	NM_000277.3(PAH):c.816A>G (p.Gly272=) GRCh37: Chr12:103246619 GRCh38: Chr12:102852841	PAH		Phenylketonuria	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 219130224.	NM_000277.3(PAH):c.626T>C (p.Ile209Thr) GRCh37: Chr12:103248994 GRCh38: Chr12:102855216	PAH	I209T	Phenylketonuria	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 218850525.	NM_000277.3(PAH):c.707-59C>G GRCh37: Chr12:103246787 GRCh38: Chr12:102853009	PAH		Phenylketonuria	Benign (Nov 2, 2022)	criteria provided, single submitter
Select item 217331226.	NM_000277.3(PAH):c.419C>T (p.Ala140Val) GRCh37: Chr12:103271262 GRCh38: Chr12:102877484	PAH	A140V	Phenylketonuria	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 216736427.	NM_000277.3(PAH):c.22A>G (p.Asn8Asp) GRCh37: Chr12:103310887 GRCh38: Chr12:102917109	PAH	N8D	Phenylketonuria	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 216585428.	NM_000277.3(PAH):c.61-19A>G GRCh37: Chr12:103306695 GRCh38: Chr12:102912917	PAH		Phenylketonuria	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 216471429.	NM_000277.3(PAH):c.1111_1117del (p.Lys371fs) GRCh37: Chr12:103237506-103237512 GRCh38: Chr12:102843728-102843734	PAH	K371fs	Phenylketonuria	Pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 215385330.	NM_000277.3(PAH):c.670A>G (p.Ile224Val) GRCh37: Chr12:103248950 GRCh38: Chr12:102855172	PAH	I224V	Phenylketonuria	Likely pathogenic (May 10, 2022)	criteria provided, single submitter
Select item 215306831.	NM_000277.3(PAH):c.993T>C (p.Phe331=) GRCh37: Chr12:103238186 GRCh38: Chr12:102844408	PAH		Phenylketonuria	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 215216032.	NM_000277.3(PAH):c.641A>G (p.Glu214Gly) GRCh37: Chr12:103248979 GRCh38: Chr12:102855201	PAH	E214G	Phenylketonuria	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 215215933.	NM_000277.3(PAH):c.827T>C (p.Met276Thr) GRCh37: Chr12:103246608 GRCh38: Chr12:102852830	PAH	M276T	Phenylketonuria	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 213998334.	NM_000277.3(PAH):c.913-5T>C GRCh37: Chr12:103240734 GRCh38: Chr12:102846956	PAH		Phenylketonuria	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 213967735.	NM_000277.3(PAH):c.670A>C (p.Ile224Leu) GRCh37: Chr12:103248950 GRCh38: Chr12:102855172	PAH	I224L	Phenylketonuria	Likely pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 213741436.	NM_000277.3(PAH):c.211C>T (p.Arg71Cys) GRCh37: Chr12:103288654 GRCh38: Chr12:102894876	PAH	R71C	Phenylketonuria	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 213741137.	NM_000277.3(PAH):c.361T>C (p.Phe121Leu) GRCh37: Chr12:103271320 GRCh38: Chr12:102877542	PAH	F121L	Phenylketonuria	Pathogenic (Dec 14, 2021)	criteria provided, single submitter
Select item 213740838.	NM_000277.3(PAH):c.521T>A (p.Ile174Asn) GRCh37: Chr12:103249099 GRCh38: Chr12:102855321	PAH	I174N	Phenylketonuria	Pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 213740639.	NM_000277.3(PAH):c.839A>C (p.Glu280Ala) GRCh37: Chr12:103246596 GRCh38: Chr12:102852818	PAH	E280A	Phenylketonuria, not provided	Pathogenic (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213740440.	NM_000277.3(PAH):c.1172G>T (p.Ser391Ile) GRCh37: Chr12:103237451 GRCh38: Chr12:102843673	PAH	S391I	Phenylketonuria	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 212758441.	NM_000277.3(PAH):c.509+9del GRCh37: Chr12:103260365 GRCh38: Chr12:102866587	PAH		Phenylketonuria	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 211790642.	NM_000277.3(PAH):c.510-7A>G GRCh37: Chr12:103249117 GRCh38: Chr12:102855339	PAH		Phenylketonuria	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 211647843.	NM_000277.3(PAH):c.615G>A (p.Glu205=) GRCh37: Chr12:103249005 GRCh38: Chr12:102855227	PAH		Phenylketonuria	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 211323044.	NM_000277.3(PAH):c.556A>G (p.Thr186Ala) GRCh37: Chr12:103249064 GRCh38: Chr12:102855286	PAH	T186A	Phenylketonuria	Pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 211309745.	NM_000277.3(PAH):c.352+7A>C GRCh37: Chr12:103288506 GRCh38: Chr12:102894728	PAH		Phenylketonuria	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 210814946.	NM_000277.3(PAH):c.200C>A (p.Ser67Tyr) GRCh37: Chr12:103288665 GRCh38: Chr12:102894887	PAH	S67Y	Phenylketonuria	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 210794647.	NM_000277.3(PAH):c.1266G>A (p.Glu422=) GRCh37: Chr12:103234227 GRCh38: Chr12:102840449	PAH		Phenylketonuria	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 210442248.	NM_000277.3(PAH):c.873_880del (p.Pro292fs) GRCh37: Chr12:103245497-103245504 GRCh38: Chr12:102851719-102851726	LOC126861615, PAH	P292fs	Phenylketonuria	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 210381649.	NM_000277.3(PAH):c.1049C>G (p.Ser350Cys) GRCh37: Chr12:103238130 GRCh38: Chr12:102844352	PAH	S350C	Phenylketonuria	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 210355250.	NM_000277.3(PAH):c.543G>A (p.Glu181=) GRCh37: Chr12:103249077 GRCh38: Chr12:102855299	PAH		Phenylketonuria	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 210319451.	NM_000277.3(PAH):c.1050C>A (p.Ser350=) GRCh37: Chr12:103238129 GRCh38: Chr12:102844351	PAH		Phenylketonuria	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 209879952.	NM_000277.3(PAH):c.450dup (p.Asp151fs) GRCh37: Chr12:103260432-103260433 GRCh38: Chr12:102866654-102866655	PAH	D151fs	Phenylketonuria	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 209614753.	NM_000277.3(PAH):c.23del (p.Asn8fs) GRCh37: Chr12:103310886 GRCh38: Chr12:102917108	PAH	N8fs	Phenylketonuria	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 209456554.	NM_000277.3(PAH):c.192C>T (p.His64=) GRCh37: Chr12:103288673 GRCh38: Chr12:102894895	PAH		Phenylketonuria	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209407255.	NM_000277.3(PAH):c.574A>G (p.Lys192Glu) GRCh37: Chr12:103249046 GRCh38: Chr12:102855268	PAH	K192E	Phenylketonuria	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 209322056.	NM_000277.3(PAH):c.169-8T>C GRCh37: Chr12:103288704 GRCh38: Chr12:102894926	PAH		Phenylketonuria	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 208835957.	NM_000277.3(PAH):c.837dup (p.Glu280fs) GRCh37: Chr12:103246597-103246598 GRCh38: Chr12:102852819-102852820	PAH	E280fs	Phenylketonuria	Pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 208704758.	NM_000277.3(PAH):c.1066-8G>C GRCh37: Chr12:103237565 GRCh38: Chr12:102843787	PAH		Phenylketonuria	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 208657059.	NM_000277.3(PAH):c.264G>A (p.Leu88=) GRCh37: Chr12:103288601 GRCh38: Chr12:102894823	PAH		Phenylketonuria	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 208477260.	NM_000277.3(PAH):c.303C>T (p.Asp101=) GRCh37: Chr12:103288562 GRCh38: Chr12:102894784	PAH		Phenylketonuria	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 207426861.	NM_000277.3(PAH):c.98G>T (p.Gly33Val) GRCh37: Chr12:103306639 GRCh38: Chr12:102912861	PAH	G33V	Phenylketonuria	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 207089962.	NM_000277.3(PAH):c.899C>G (p.Ala300Gly) GRCh37: Chr12:103245478 GRCh38: Chr12:102851700	LOC126861615, PAH	A300G	Phenylketonuria	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 204901063.	NM_000277.3(PAH):c.441+16G>A GRCh37: Chr12:103271224 GRCh38: Chr12:102877446	PAH		Phenylketonuria	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 204688864.	NM_000277.3(PAH):c.1026A>C (p.Ala342=) GRCh37: Chr12:103238153 GRCh38: Chr12:102844375	PAH		Phenylketonuria	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 203602565.	NM_000277.3(PAH):c.870T>A (p.His290Gln) GRCh37: Chr12:103245507 GRCh38: Chr12:102851729	LOC126861615, PAH	H290Q	Phenylketonuria	Pathogenic (Nov 3, 2022)	criteria provided, single submitter
Select item 203572266.	NM_000277.3(PAH):c.45C>G (p.Leu15=) GRCh37: Chr12:103310864 GRCh38: Chr12:102917086	PAH		Phenylketonuria	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 203554067.	NM_000277.3(PAH):c.493_496del (p.Ala165fs) GRCh37: Chr12:103260387-103260390 GRCh38: Chr12:102866609-102866612	PAH	A165fs	Phenylketonuria	Pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 203234868.	NM_000277.3(PAH):c.876C>A (p.Pro292=) GRCh37: Chr12:103245501 GRCh38: Chr12:102851723	LOC126861615, PAH		Phenylketonuria	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 202655469.	NM_000277.3(PAH):c.1305T>C (p.Asp435=) GRCh37: Chr12:103234188 GRCh38: Chr12:102840410	PAH		Phenylketonuria	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 202612770.	NM_000277.3(PAH):c.1164G>C (p.Val388=) GRCh37: Chr12:103237459 GRCh38: Chr12:102843681	PAH		Phenylketonuria	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 201791771.	NM_000277.3(PAH):c.553_706+646delinsTACTTACCTAT GRCh37: Chr12:103248268-103249067 GRCh38: Chr12:102854490-102855289	PAH		Phenylketonuria	Pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 201778872.	NM_000277.3(PAH):c.920G>T (p.Gly307Val) GRCh37: Chr12:103240722 GRCh38: Chr12:102846944	PAH	G307V	Phenylketonuria	Likely pathogenic (Jul 24, 2022)	criteria provided, single submitter
Select item 201746973.	NM_000277.3(PAH):c.714T>C (p.Thr238=) GRCh37: Chr12:103246721 GRCh38: Chr12:102852943	PAH		Phenylketonuria	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 201703674.	NM_000277.3(PAH):c.44T>G (p.Leu15Arg) GRCh37: Chr12:103310865 GRCh38: Chr12:102917087	PAH	L15R	Phenylketonuria	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 201403075.	NM_000277.3(PAH):c.339G>A (p.Lys113=) GRCh37: Chr12:103288526 GRCh38: Chr12:102894748	PAH		Phenylketonuria	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 201309676.	NM_000277.3(PAH):c.867A>T (p.Gly289=) GRCh37: Chr12:103245510 GRCh38: Chr12:102851732	LOC126861615, PAH		Phenylketonuria	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 201271077.	NM_000277.3(PAH):c.1066-19T>G GRCh37: Chr12:103237576 GRCh38: Chr12:102843798	PAH		Phenylketonuria	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 200558978.	NM_000277.3(PAH):c.1245C>T (p.Asp415=) GRCh37: Chr12:103234248 GRCh38: Chr12:102840470	PAH		Phenylketonuria	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 199162479.	NM_000277.3(PAH):c.442-7C>A GRCh37: Chr12:103260448 GRCh38: Chr12:102866670	PAH		Phenylketonuria	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 199003780.	NM_000277.3(PAH):c.257G>A (p.Arg86His) GRCh37: Chr12:103288608 GRCh38: Chr12:102894830	PAH	R86H	Phenylketonuria	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 198311081.	NM_000277.3(PAH):c.515A>G (p.Gln172Arg) GRCh37: Chr12:103249105 GRCh38: Chr12:102855327	PAH	Q172R	Phenylketonuria	Likely pathogenic (Aug 8, 2022)	criteria provided, single submitter
Select item 198237682.	NM_000277.3(PAH):c.1065+7C>T GRCh37: Chr12:103238107 GRCh38: Chr12:102844329	PAH		Phenylketonuria	Likely benign (May 23, 2022)	criteria provided, single submitter
Select item 196477483.	NM_000277.3(PAH):c.330A>G (p.Ser110=) GRCh37: Chr12:103288535 GRCh38: Chr12:102894757	PAH		Phenylketonuria	Benign (Sep 28, 2022)	criteria provided, single submitter
Select item 196152884.	NM_000277.3(PAH):c.297G>A (p.Arg99=) GRCh37: Chr12:103288568 GRCh38: Chr12:102894790	PAH		Phenylketonuria	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 196124285.	NM_000277.3(PAH):c.228G>A (p.Glu76=) GRCh37: Chr12:103288637 GRCh38: Chr12:102894859	PAH		Phenylketonuria	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 195455786.	NM_000277.3(PAH):c.706+12T>G GRCh37: Chr12:103248902 GRCh38: Chr12:102855124	PAH		Phenylketonuria	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 195230887.	NM_000277.3(PAH):c.1282C>G (p.Gln428Glu) GRCh37: Chr12:103234211 GRCh38: Chr12:102840433	PAH	Q428E	Inborn genetic diseases, Phenylketonuria	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 195059188.	NM_000277.3(PAH):c.1032T>C (p.Gly344=) GRCh37: Chr12:103238147 GRCh38: Chr12:102844369	PAH		Phenylketonuria	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 194704489.	NM_000277.3(PAH):c.312C>T (p.Ala104=) GRCh37: Chr12:103288553 GRCh38: Chr12:102894775	PAH		Phenylketonuria	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 194406290.	NM_000277.3(PAH):c.61-9A>C GRCh37: Chr12:103306685 GRCh38: Chr12:102912907	PAH		Phenylketonuria	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 194303091.	NM_000277.3(PAH):c.371C>A (p.Thr124Asn) GRCh37: Chr12:103271310 GRCh38: Chr12:102877532	PAH	T124N	Phenylketonuria	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 193718892.	NM_000277.3(PAH):c.789C>T (p.Phe263=) GRCh37: Chr12:103246646 GRCh38: Chr12:102852868	PAH		Phenylketonuria	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 193374093.	NM_000277.3(PAH):c.214T>G (p.Leu72Val) GRCh37: Chr12:103288651 GRCh38: Chr12:102894873	PAH	L72V	Phenylketonuria	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 192035994.	NM_000277.3(PAH):c.632dup (p.Leu212fs) GRCh37: Chr12:103248987-103248988 GRCh38: Chr12:102855209-102855210	PAH	L212fs	Phenylketonuria	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 191793895.	NM_000277.3(PAH):c.650G>T (p.Cys217Phe) GRCh37: Chr12:103248970 GRCh38: Chr12:102855192	PAH	C217F	Phenylketonuria	Likely pathogenic (Dec 20, 2021)	criteria provided, single submitter
Select item 191243696.	NM_000277.3(PAH):c.1342C>T (p.Leu448Phe) GRCh37: Chr12:103232970 GRCh38: Chr12:102839192	PAH	L448F	Phenylketonuria	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 190928197.	NM_000277.3(PAH):c.458T>C (p.Val153Ala) GRCh37: Chr12:103260425 GRCh38: Chr12:102866647	PAH	V153A	Phenylketonuria	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 190830098.	NM_000277.3(PAH):c.442-4C>T GRCh37: Chr12:103260445 GRCh38: Chr12:102866667	PAH		Phenylketonuria	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 190550799.	NM_000277.3(PAH):c.912+9T>C GRCh37: Chr12:103245456 GRCh38: Chr12:102851678	LOC126861615, PAH		Phenylketonuria	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 1903246100.	NM_000277.3(PAH):c.1080G>A (p.Glu360=) GRCh37: Chr12:103237543 GRCh38: Chr12:102843765	PAH		Phenylketonuria	Likely benign (Aug 25, 2022)	criteria provided, single submitter

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