ClinVar for MedGen (Select 82777) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25802451.	NM_000155.4(GALT):c.820+2T>C GRCh37: Chr9:34648893 GRCh38: Chr9:34648896	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Benign	criteria provided, single submitter
Select item 25733752.	NM_000155.4(GALT):c.424A>G (p.Met142Val) GRCh37: Chr9:34647875 GRCh38: Chr9:34647878	GALT	M33V	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Jun 20, 2023)	criteria provided, single submitter
Select item 24320313.	NM_000155.4(GALT):c.748C>T (p.Pro250Ser) GRCh37: Chr9:34648819 GRCh38: Chr9:34648822	GALT	P141S, P250S	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Oct 26, 2021)	criteria provided, single submitter
Select item 24286714.	NM_000155.4(GALT):c.302C>G (p.Ala101Gly) GRCh37: Chr9:34647538 GRCh38: Chr9:34647541	GALT	A101G	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 24224855.	NC_000009.11:g.(?_32453279)_(37785041_?)dup GRCh37: Chr9:32453279-37785041	GALT, GBA2, GLIPR2, TESK1, TLN1, TOPORS, TPM2, KIF24, MELK, MSMP, GRHPR, HINT2, HRCT1, IL11RA, TMEM215, TRMT10B, UBAP1, UBAP2, TMEM8B, AQP3, ANKRD18B, APTX, TOMM5, GNE, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7		Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Arthrogryposis, distal, type 1A, Ciliary dyskinesia, not provided, Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 24218206.	NM_000155.4(GALT):c.40G>A (p.Ala14Thr) GRCh37: Chr9:34646741 GRCh38: Chr9:34646744	GALT	A14T	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 24205707.	NM_000155.4(GALT):c.24T>G (p.Pro8=) GRCh37: Chr9:34646725 GRCh38: Chr9:34646728	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 24174888.	NM_000155.4(GALT):c.565-8C>A GRCh37: Chr9:34648323 GRCh38: Chr9:34648326	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 24164409.	NM_000155.4(GALT):c.823C>T (p.Leu275=) GRCh37: Chr9:34648997 GRCh38: Chr9:34649000	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 219928510.	NM_000155.4(GALT):c.252G>A (p.Glu84=) GRCh37: Chr9:34647255 GRCh38: Chr9:34647258	GALT	S17N	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 219572011.	NM_000155.4(GALT):c.803C>A (p.Thr268Asn) GRCh37: Chr9:34648874 GRCh38: Chr9:34648877	GALT	T159N	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 219521412.	NM_000155.4(GALT):c.82+11C>A GRCh37: Chr9:34646794 GRCh38: Chr9:34646797	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 218869213.	NM_000155.4(GALT):c.51G>C (p.Ala17=) GRCh37: Chr9:34646752 GRCh38: Chr9:34646755	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 218039914.	NM_000155.4(GALT):c.719_728del (p.Leu240fs) GRCh37: Chr9:34648784-34648793 GRCh38: Chr9:34648787-34648796	GALT	L131fs, L240fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 217333115.	NM_000155.4(GALT):c.1117_1118del (p.Arg373fs) GRCh37: Chr9:34650423-34650424 GRCh38: Chr9:34650426-34650427	GALT	R373fs, R264fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 216295916.	NM_000155.4(GALT):c.1042G>A (p.Asp348Asn) GRCh37: Chr9:34649544 GRCh38: Chr9:34649547	GALT	D239N, D348N	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 216146417.	NM_000155.4(GALT):c.210T>A (p.Pro70=) GRCh37: Chr9:34647213 GRCh38: Chr9:34647216	GALT	L3H	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 215930718.	NM_000155.4(GALT):c.298C>G (p.Pro100Ala) GRCh37: Chr9:34647534 GRCh38: Chr9:34647537	GALT	P100A	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 215871119.	NM_000155.4(GALT):c.45A>T (p.Ser15=) GRCh37: Chr9:34646746 GRCh38: Chr9:34646749	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 214527620.	NM_000155.4(GALT):c.457G>A (p.Ala153Thr) GRCh37: Chr9:34647908 GRCh38: Chr9:34647911	GALT	A44T, A153T	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 214228521.	NM_000155.4(GALT):c.378-13C>T GRCh37: Chr9:34647816 GRCh38: Chr9:34647819	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 213889322.	NM_000155.4(GALT):c.1060-9C>T GRCh37: Chr9:34650357 GRCh38: Chr9:34650360	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 213676223.	NM_000155.4(GALT):c.1138T>C (p.Ter380Arg) GRCh37: Chr9:34650444 GRCh38: Chr9:34650447	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (Jun 11, 2022)	criteria provided, single submitter
Select item 213676124.	NM_000155.4(GALT):c.1108C>T (p.Gln370Ter) GRCh37: Chr9:34650414 GRCh38: Chr9:34650417	GALT	Q370, Q261	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 213675825.	NM_000155.4(GALT):c.813G>C (p.Glu271Asp) GRCh37: Chr9:34648884 GRCh38: Chr9:34648887	GALT	E162D, E271D	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 213675626.	NM_000155.4(GALT):c.499T>C (p.Trp167Arg) GRCh37: Chr9:34647950 GRCh38: Chr9:34647953	GALT	W58R	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 213675527.	NM_000155.4(GALT):c.368G>A (p.Arg123Gln) GRCh37: Chr9:34647693 GRCh38: Chr9:34647696	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 213675328.	NM_000155.4(GALT):c.113A>C (p.Gln38Pro) GRCh37: Chr9:34647116 GRCh38: Chr9:34647119	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 213403529.	NM_000155.4(GALT):c.252+7C>T GRCh37: Chr9:34647262 GRCh38: Chr9:34647265	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 212772230.	NM_000155.4(GALT):c.31C>G (p.Arg11Gly) GRCh37: Chr9:34646732 GRCh38: Chr9:34646735	GALT	R11G	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 212446631.	NM_000155.4(GALT):c.594T>C (p.Ile198=) GRCh37: Chr9:34648360 GRCh38: Chr9:34648363	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 211072432.	NM_000155.4(GALT):c.83-10del GRCh37: Chr9:34647076 GRCh38: Chr9:34647079	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 210926933.	NM_000155.4(GALT):c.194T>C (p.Val65Ala) GRCh37: Chr9:34647197 GRCh38: Chr9:34647200	GALT	V65A	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 210264834.	NM_000155.4(GALT):c.82+19G>A GRCh37: Chr9:34646802 GRCh38: Chr9:34646805	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 209632035.	NM_000155.4(GALT):c.981G>C (p.Leu327=) GRCh37: Chr9:34649483 GRCh38: Chr9:34649486	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 209031936.	NM_000155.4(GALT):c.48G>A (p.Glu16=) GRCh37: Chr9:34646749 GRCh38: Chr9:34646752	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 207431437.	NM_000155.4(GALT):c.1059+10C>G GRCh37: Chr9:34649571 GRCh38: Chr9:34649574	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 207007738.	NM_000155.4(GALT):c.465_474dup (p.Glu159fs) GRCh37: Chr9:34647915-34647916 GRCh38: Chr9:34647918-34647919	GALT	E159fs, E50fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 206749639.	NM_000155.4(GALT):c.1059+15C>T GRCh37: Chr9:34649576 GRCh38: Chr9:34649579	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 204637140.	NM_000155.4(GALT):c.253-11C>T GRCh37: Chr9:34647478 GRCh38: Chr9:34647481	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Benign (Oct 23, 2022)	criteria provided, single submitter
Select item 204511041.	NM_000155.4(GALT):c.854A>C (p.Lys285Thr) GRCh37: Chr9:34649028 GRCh38: Chr9:34649031	GALT	K285T, K176T	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 203466442.	NM_000155.4(GALT):c.949C>T (p.Gln317Ter) GRCh37: Chr9:34649451 GRCh38: Chr9:34649454	GALT	Q208, Q317	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 203465743.	NM_000155.4(GALT):c.549C>A (p.Pro183=) GRCh37: Chr9:34648153 GRCh38: Chr9:34648156	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 203438544.	NM_000155.4(GALT):c.910C>G (p.Pro304Ala) GRCh37: Chr9:34649412 GRCh38: Chr9:34649415	GALT	P195A, P304A	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 203418845.	NM_000155.4(GALT):c.795T>C (p.Pro265=) GRCh37: Chr9:34648866 GRCh38: Chr9:34648869	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 203327946.	NM_000155.4(GALT):c.905-5G>C GRCh37: Chr9:34649402 GRCh38: Chr9:34649405	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 203214347.	NM_000155.4(GALT):c.696G>A (p.Leu232=) GRCh37: Chr9:34648767 GRCh38: Chr9:34648770	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 203036748.	NM_000155.4(GALT):c.1011T>G (p.Val337=) GRCh37: Chr9:34649513 GRCh38: Chr9:34649516	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 203018849.	NM_000155.4(GALT):c.82+2T>G GRCh37: Chr9:34646785 GRCh38: Chr9:34646788	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 202163650.	NM_000155.4(GALT):c.557A>G (p.His186Arg) GRCh37: Chr9:34648161 GRCh38: Chr9:34648164	GALT	H186R, H77R	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 201848951.	NM_000155.4(GALT):c.522A>G (p.Lys174=) GRCh37: Chr9:34648126 GRCh38: Chr9:34648129	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 201479352.	NM_000155.4(GALT):c.636G>A (p.Gln212=) GRCh37: Chr9:34648402 GRCh38: Chr9:34648405	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 200960053.	NM_000155.4(GALT):c.918A>G (p.Gly306=) GRCh37: Chr9:34649420 GRCh38: Chr9:34649423	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 200432854.	NM_000155.4(GALT):c.649_653dup (p.Met219fs) GRCh37: Chr9:34648414-34648415 GRCh38: Chr9:34648417-34648418	GALT	M219fs, M110fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 199921455.	NM_000155.4(GALT):c.550del (p.His184fs) GRCh37: Chr9:34648150 GRCh38: Chr9:34648153	GALT	H184fs, H75fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 199600656.	NM_000155.4(GALT):c.253-8G>T GRCh37: Chr9:34647481 GRCh38: Chr9:34647484	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 199389057.	NM_000155.4(GALT):c.815G>T (p.Arg272Leu) GRCh37: Chr9:34648886 GRCh38: Chr9:34648889	GALT	R163L, R272L	not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Conflicting interpretations of pathogenicity (Jul 28, 2023)	criteria provided, conflicting interpretations
Select item 199266558.	NM_000155.4(GALT):c.328+2T>G GRCh37: Chr9:34647566 GRCh38: Chr9:34647569	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (May 10, 2022)	criteria provided, single submitter
Select item 197160059.	NM_000155.4(GALT):c.501G>C (p.Trp167Cys) GRCh37: Chr9:34647952 GRCh38: Chr9:34647955	GALT	W58C, W167C	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 196582060.	NM_000155.4(GALT):c.253-19del GRCh37: Chr9:34647470 GRCh38: Chr9:34647473	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 195548161.	NM_000155.4(GALT):c.950A>C (p.Gln317Pro) GRCh37: Chr9:34649452 GRCh38: Chr9:34649455	GALT	Q208P, Q317P	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 195362062.	NM_000155.4(GALT):c.30A>G (p.Gln10=) GRCh37: Chr9:34646731 GRCh38: Chr9:34646734	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 193791863.	NM_000155.4(GALT):c.723A>G (p.Val241=) GRCh37: Chr9:34648794 GRCh38: Chr9:34648797	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 193028964.	NM_000155.4(GALT):c.1059+16_1059+17insT GRCh37: Chr9:34649577-34649578 GRCh38: Chr9:34649580-34649581	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 192389965.	NM_000155.4(GALT):c.173A>T (p.Glu58Val) GRCh37: Chr9:34647176 GRCh38: Chr9:34647179	GALT	E58V	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 191838266.	NC_000009.12:g.34646581A>C GRCh37: Chr9:34646578 GRCh38: Chr9:34646581	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 191801267.	NM_000155.4(GALT):c.724C>T (p.Leu242=) GRCh37: Chr9:34648795 GRCh38: Chr9:34648798	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 191746068.	NM_000155.4(GALT):c.18C>G (p.Thr6=) GRCh37: Chr9:34646719 GRCh38: Chr9:34646722	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 172695869.	NM_000155.4(GALT):c.209del (p.Pro70fs) GRCh37: Chr9:34647210 GRCh38: Chr9:34647213	GALT	L3fs, P70fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172665070.	NM_000155.4(GALT):c.412del (p.Thr138fs) GRCh37: Chr9:34647862 GRCh38: Chr9:34647865	GALT	T138fs, T29fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 172651071.	NM_000155.4(GALT):c.680_681del (p.Leu227fs) GRCh37: Chr9:34648445-34648446 GRCh38: Chr9:34648448-34648449	GALT	L118fs, L227fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172539972.	NM_000155.4(GALT):c.468_469delinsT (p.Val157fs) GRCh37: Chr9:34647919-34647920 GRCh38: Chr9:34647922-34647923	GALT	V157fs, V48fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 172532973.	NM_000155.4(GALT):c.615_616del (p.Gln206fs) GRCh37: Chr9:34648379-34648380 GRCh38: Chr9:34648382-34648383	GALT	Q206fs, Q97fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172479474.	NM_000155.4(GALT):c.645_646insGAGT (p.Pro216fs) GRCh37: Chr9:34648411-34648412 GRCh38: Chr9:34648414-34648415	GALT	P107fs, P216fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 172471975.	NM_000155.4(GALT):c.652_653del (p.Leu218fs) GRCh37: Chr9:34648418-34648419 GRCh38: Chr9:34648421-34648422	GALT	L109fs, L218fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172439676.	NM_000155.4(GALT):c.231_233delinsT (p.Ala78fs) GRCh37: Chr9:34647234-34647236 GRCh38: Chr9:34647237-34647239	GALT	A78fs, G10fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 172431277.	NM_000155.4(GALT):c.754del (p.Gln252fs) GRCh37: Chr9:34648824 GRCh38: Chr9:34648827	GALT	Q143fs, Q252fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 172424278.	NM_000155.4(GALT):c.669_670del (p.Gln224fs) GRCh37: Chr9:34648435-34648436 GRCh38: Chr9:34648438-34648439	GALT	Q115fs, Q224fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172419579.	NM_000155.4(GALT):c.849_850del (p.Leu283fs) GRCh37: Chr9:34649023-34649024 GRCh38: Chr9:34649026-34649027	GALT	L174fs, L283fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 172233380.	NM_000155.4(GALT):c.213dup (p.Asn72fs) GRCh37: Chr9:34647215-34647216 GRCh38: Chr9:34647218-34647219	GALT	N72fs, T5fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic/Likely pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172041281.	NM_000155.4(GALT):c.931G>T (p.Ala311Ser) GRCh37: Chr9:34649433 GRCh38: Chr9:34649436	GALT	A202S, A311S	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 170514682.	NM_000155.4(GALT):c.[413C>T;469G>A] GRCh37: Chr9:34647864 Chr9:34647920 GRCh38: Chr9:34647867 Chr9:34647923	GALT, GALT	T29M, V157I, V48I	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 170420383.	NM_000155.4(GALT):c.533T>G (p.Met178Arg) GRCh37: Chr9:34648137 GRCh38: Chr9:34648140	GALT	M178R, M69R	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic (Sep 2, 2022)	no assertion criteria provided
Select item 169399584.	NM_000155.4(GALT):c.820+16A>C GRCh37: Chr9:34648907 GRCh38: Chr9:34648910	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not provided	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169143185.	NM_000155.4(GALT):c.1001A>G (p.Lys334Arg) GRCh37: Chr9:34649503 GRCh38: Chr9:34649506	GALT	K225R	not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168758686.	NM_000155.4(GALT):c.328+2T>C GRCh37: Chr9:34647566 GRCh38: Chr9:34647569	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168752287.	NM_000155.4(GALT):c.499T>G (p.Trp167Gly) GRCh37: Chr9:34647950 GRCh38: Chr9:34647953	GALT	W167G, W58G	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168583988.	NM_000155.4(GALT):c.142C>A (p.Arg48Ser) GRCh37: Chr9:34647145 GRCh38: Chr9:34647148	GALT	R48S	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168461889.	NM_000155.4(GALT):c.772del (p.Arg258fs) GRCh37: Chr9:34648840 GRCh38: Chr9:34648843	GALT	R149fs, R258fs	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Pathogenic	no assertion criteria provided
Select item 168376590.	NM_000155.4(GALT):c.1060-331G>C GRCh37: Chr9:34650035 GRCh38: Chr9:34650038	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Uncertain significance (Mar 12, 2021)	criteria provided, single submitter
Select item 167160691.	NM_000155.4(GALT):c.304C>T (p.Leu102=) GRCh37: Chr9:34647540 GRCh38: Chr9:34647543	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 167130992.	NM_000155.4(GALT):c.162G>A (p.Gln54=) GRCh37: Chr9:34647165 GRCh38: Chr9:34647168	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jul 7, 2021)	criteria provided, single submitter
Select item 166984193.	NM_000155.4(GALT):c.357A>C (p.Ala119=) GRCh37: Chr9:34647682 GRCh38: Chr9:34647685	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jan 8, 2021)	criteria provided, single submitter
Select item 166611394.	NM_000155.4(GALT):c.15A>G (p.Gly5=) GRCh37: Chr9:34646716 GRCh38: Chr9:34646719	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jun 9, 2021)	criteria provided, single submitter
Select item 166390095.	NM_000155.4(GALT):c.378-6A>T GRCh37: Chr9:34647823 GRCh38: Chr9:34647826	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Feb 14, 2021)	criteria provided, single submitter
Select item 166205096.	NM_000155.4(GALT):c.216C>T (p.Asn72=) GRCh37: Chr9:34647219 GRCh38: Chr9:34647222	GALT	T5I	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 165851797.	NM_000155.4(GALT):c.891C>T (p.Ser297=) GRCh37: Chr9:34649065 GRCh38: Chr9:34649068	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 165587498.	NM_000155.4(GALT):c.828C>A (p.Ala276=) GRCh37: Chr9:34649002 GRCh38: Chr9:34649005	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 165109999.	NM_000155.4(GALT):c.83-17T>C GRCh37: Chr9:34647069 GRCh38: Chr9:34647072	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Nov 14, 2020)	criteria provided, single submitter
Select item 1651098100.	NM_000155.4(GALT):c.273C>T (p.Ser91=) GRCh37: Chr9:34647509 GRCh38: Chr9:34647512	GALT		Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely benign (Apr 6, 2022)	criteria provided, single submitter

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