ClinVar for MedGen (Select 351273) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24335071.	NM_001375808.2(LPIN2):c.689C>T (p.Pro230Leu) GRCh37: Chr18:2940612 GRCh38: Chr18:2940614	LPIN2	P230L	Majeed syndrome	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 24335062.	NM_001375808.2(LPIN2):c.659A>G (p.His220Arg) GRCh37: Chr18:2940642 GRCh38: Chr18:2940644	LPIN2	H220R	Majeed syndrome	Uncertain significance (Dec 6, 2022)	criteria provided, single submitter
Select item 24335053.	NM_001375808.2(LPIN2):c.1915C>G (p.Leu639Val) GRCh37: Chr18:2925245 GRCh38: Chr18:2925247	LPIN2	L639V	Majeed syndrome	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 24335044.	NM_001375808.2(LPIN2):c.1135G>A (p.Ala379Thr) GRCh37: Chr18:2937723 GRCh38: Chr18:2937725	LPIN2	A379T	Majeed syndrome	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 24335035.	NM_001375808.2(LPIN2):c.622G>A (p.Glu208Lys) GRCh37: Chr18:2940679 GRCh38: Chr18:2940681	LPIN2	E208K	Majeed syndrome	Uncertain significance (Dec 8, 2022)	criteria provided, single submitter
Select item 24335026.	NM_001375808.2(LPIN2):c.1997A>G (p.Tyr666Cys) GRCh37: Chr18:2924486 GRCh38: Chr18:2924488	LPIN2	Y666C	Majeed syndrome	Uncertain significance (Dec 6, 2022)	criteria provided, single submitter
Select item 24335017.	NM_001375808.2(LPIN2):c.595T>C (p.Ser199Pro) GRCh37: Chr18:2940706 GRCh38: Chr18:2940708	LPIN2	S199P	Majeed syndrome	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 24285988.	NM_001375808.2(LPIN2):c.631G>C (p.Glu211Gln) GRCh37: Chr18:2940670 GRCh38: Chr18:2940672	LPIN2	E211Q	Majeed syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 24259629.	NC_000018.9:g.(?_2656075)_(2960838_?)del GRCh37: Chr18:2656075-2960838	EMILIN2, LPIN2, SMCHD1		Majeed syndrome	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 241623510.	NM_001375808.2(LPIN2):c.1986T>C (p.Ile662=) GRCh37: Chr18:2924497 GRCh38: Chr18:2924499	LPIN2		Majeed syndrome	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 219681711.	NM_001375808.2(LPIN2):c.934G>C (p.Glu312Gln) GRCh37: Chr18:2937924 GRCh38: Chr18:2937926	LPIN2	E312Q	Majeed syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 219058012.	NM_001375808.2(LPIN2):c.1268+16T>C GRCh37: Chr18:2934333 GRCh38: Chr18:2934335	LPIN2		Majeed syndrome	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 218646513.	NM_001375808.2(LPIN2):c.2456A>G (p.Tyr819Cys) GRCh37: Chr18:2920866 GRCh38: Chr18:2920868	LPIN2	Y819C	Majeed syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 218104014.	NM_001375808.2(LPIN2):c.1457-20ATT[2] GRCh37: Chr18:2929168-2929170 GRCh38: Chr18:2929170-2929172	LPIN2		Majeed syndrome	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 218076015.	NM_001375808.2(LPIN2):c.1710+19A>G GRCh37: Chr18:2927701 GRCh38: Chr18:2927703	LPIN2		Majeed syndrome	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 217918016.	NM_001375808.2(LPIN2):c.9T>C (p.Tyr3=) GRCh37: Chr18:2960830 GRCh38: Chr18:2960832	LPIN2		Majeed syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 217706117.	NM_001375808.2(LPIN2):c.1268+6G>A GRCh37: Chr18:2934343 GRCh38: Chr18:2934345	LPIN2		Majeed syndrome	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 217154918.	NM_001375808.2(LPIN2):c.629A>G (p.Lys210Arg) GRCh37: Chr18:2940672 GRCh38: Chr18:2940674	LPIN2	K210R	Majeed syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 216543019.	NM_001375808.2(LPIN2):c.2125A>T (p.Lys709Ter) GRCh37: Chr18:2923822 GRCh38: Chr18:2923824	LPIN2	K709*	Majeed syndrome	Pathogenic (Sep 15, 2022)	criteria provided, single submitter
Select item 216471120.	NM_001375808.2(LPIN2):c.1038C>T (p.Leu346=) GRCh37: Chr18:2937820 GRCh38: Chr18:2937822	LPIN2		Majeed syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 216395021.	NM_001375808.2(LPIN2):c.1168+10del GRCh37: Chr18:2937680 GRCh38: Chr18:2937682	LPIN2		Majeed syndrome	Likely benign (Sep 9, 2021)	criteria provided, single submitter
Select item 216112822.	NM_001375808.2(LPIN2):c.1621-16G>A GRCh37: Chr18:2927825 GRCh38: Chr18:2927827	LPIN2		Majeed syndrome	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 215582923.	NM_001375808.2(LPIN2):c.711G>A (p.Gln237=) GRCh37: Chr18:2939589 GRCh38: Chr18:2939591	LPIN2		Majeed syndrome	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 215261824.	NM_001375808.2(LPIN2):c.1098C>T (p.Asn366=) GRCh37: Chr18:2937760 GRCh38: Chr18:2937762	LPIN2		Majeed syndrome	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 215158825.	NM_001375808.2(LPIN2):c.288+19C>T GRCh37: Chr18:2954483 GRCh38: Chr18:2954485	LPIN2		Majeed syndrome	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 215079626.	NM_001375808.2(LPIN2):c.2055C>T (p.Ile685=) GRCh37: Chr18:2924428 GRCh38: Chr18:2924430	LPIN2		Majeed syndrome	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 215012727.	NM_001375808.2(LPIN2):c.2442+19C>G GRCh37: Chr18:2921512 GRCh38: Chr18:2921514	LPIN2		Majeed syndrome	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 214973228.	NM_001375808.2(LPIN2):c.865A>G (p.Thr289Ala) GRCh37: Chr18:2937993 GRCh38: Chr18:2937995	LPIN2	T289A	Majeed syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 214519829.	NM_001375808.2(LPIN2):c.249C>T (p.Asn83=) GRCh37: Chr18:2954541 GRCh38: Chr18:2954543	LPIN2		Majeed syndrome	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 213812530.	NM_001375808.2(LPIN2):c.1684C>T (p.Arg562Ter) GRCh37: Chr18:2927746 GRCh38: Chr18:2927748	LPIN2	R562*	Majeed syndrome	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 213703931.	NM_001375808.2(LPIN2):c.2595T>C (p.Ser865=) GRCh37: Chr18:2920387 GRCh38: Chr18:2920389	LPIN2		Majeed syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 213352632.	NM_001375808.2(LPIN2):c.2686T>A (p.Ser896Thr) GRCh37: Chr18:2920296 GRCh38: Chr18:2920298	LPIN2	S896T	Majeed syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 212784033.	NM_001375808.2(LPIN2):c.2428G>A (p.Gly810Arg) GRCh37: Chr18:2921545 GRCh38: Chr18:2921547	LPIN2	G810R	Majeed syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212652934.	NM_001375808.2(LPIN2):c.1864A>T (p.Ile622Phe) GRCh37: Chr18:2925296 GRCh38: Chr18:2925298	LPIN2	I622F	Majeed syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212569835.	NM_001375808.2(LPIN2):c.1811C>A (p.Ser604Tyr) GRCh37: Chr18:2925349 GRCh38: Chr18:2925351	LPIN2	S604Y	Majeed syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 212481836.	NM_001375808.2(LPIN2):c.1369G>A (p.Glu457Lys) GRCh37: Chr18:2931341 GRCh38: Chr18:2931343	LPIN2	E457K	Majeed syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 212278137.	NM_001375808.2(LPIN2):c.2583C>A (p.Phe861Leu) GRCh37: Chr18:2920399 GRCh38: Chr18:2920401	LPIN2	F861L	Majeed syndrome	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 212168838.	NM_001375808.2(LPIN2):c.591-11C>T GRCh37: Chr18:2940721 GRCh38: Chr18:2940723	LPIN2		Majeed syndrome	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 212042439.	NM_001375808.2(LPIN2):c.77C>T (p.Thr26Ile) GRCh37: Chr18:2960762 GRCh38: Chr18:2960764	LPIN2	T26I	Majeed syndrome	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 211228340.	NM_001375808.2(LPIN2):c.2053A>G (p.Ile685Val) GRCh37: Chr18:2924430 GRCh38: Chr18:2924432	LPIN2	I685V	Majeed syndrome	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 211137441.	NM_001375808.2(LPIN2):c.1550+14C>G GRCh37: Chr18:2929049 GRCh38: Chr18:2929051	LPIN2		Majeed syndrome	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 210939042.	NM_001375808.2(LPIN2):c.1711-15A>C GRCh37: Chr18:2926818 GRCh38: Chr18:2926820	LPIN2		Majeed syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210910643.	NM_001375808.2(LPIN2):c.510G>A (p.Glu170=) GRCh37: Chr18:2951133 GRCh38: Chr18:2951135	LPIN2		Majeed syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210416244.	NM_001375808.2(LPIN2):c.79C>G (p.Leu27Val) GRCh37: Chr18:2960760 GRCh38: Chr18:2960762	LPIN2	L27V	Majeed syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210334845.	NM_001375808.2(LPIN2):c.2268A>G (p.Thr756=) GRCh37: Chr18:2922104 GRCh38: Chr18:2922106	LPIN2		Majeed syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 210047846.	NM_001375808.2(LPIN2):c.1809CTC[1] (p.Ser606del) GRCh37: Chr18:2925346-2925348 GRCh38: Chr18:2925348-2925350	LPIN2	S606del	Majeed syndrome	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 210032847.	NM_001375808.2(LPIN2):c.608C>A (p.Ser203Tyr) GRCh37: Chr18:2940693 GRCh38: Chr18:2940695	LPIN2	S203Y	Majeed syndrome	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 210029248.	NM_001375808.2(LPIN2):c.2174+14C>T GRCh37: Chr18:2923759 GRCh38: Chr18:2923761	LPIN2		Majeed syndrome	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209987849.	NM_001375808.2(LPIN2):c.699-2A>G GRCh37: Chr18:2939603 GRCh38: Chr18:2939605	LPIN2		Majeed syndrome	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 209719150.	NM_001375808.2(LPIN2):c.2098T>C (p.Leu700=) GRCh37: Chr18:2923849 GRCh38: Chr18:2923851	LPIN2		Majeed syndrome	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 209551751.	NM_001375808.2(LPIN2):c.1061A>G (p.Gln354Arg) GRCh37: Chr18:2937797 GRCh38: Chr18:2937799	LPIN2	Q354R	Majeed syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209141852.	NM_001375808.2(LPIN2):c.1314C>G (p.Leu438=) GRCh37: Chr18:2931396 GRCh38: Chr18:2931398	LPIN2		Majeed syndrome	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 207486453.	NM_001375808.2(LPIN2):c.1291C>A (p.Gln431Lys) GRCh37: Chr18:2931419 GRCh38: Chr18:2931421	LPIN2	Q431K	Majeed syndrome	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 206361554.	NM_001375808.2(LPIN2):c.2358C>A (p.Phe786Leu) GRCh37: Chr18:2921615 GRCh38: Chr18:2921617	LPIN2	F786L	Majeed syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 206190755.	NM_001375808.2(LPIN2):c.2013C>T (p.Arg671=) GRCh37: Chr18:2924470 GRCh38: Chr18:2924472	LPIN2		Majeed syndrome	Likely benign (Jun 2, 2020)	criteria provided, single submitter
Select item 205405056.	NM_001375808.2(LPIN2):c.1485T>C (p.Tyr495=) GRCh37: Chr18:2929128 GRCh38: Chr18:2929130	LPIN2		Majeed syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 204450457.	NM_001375808.2(LPIN2):c.1456+5G>T GRCh37: Chr18:2931249 GRCh38: Chr18:2931251	LPIN2		Majeed syndrome, not provided	Uncertain significance (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204086558.	NM_001375808.2(LPIN2):c.1110G>A (p.Ala370=) GRCh37: Chr18:2937748 GRCh38: Chr18:2937750	LPIN2		Majeed syndrome	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 203318859.	NM_001375808.2(LPIN2):c.289-6_289-4del GRCh37: Chr18:2951358-2951360 GRCh38: Chr18:2951360-2951362	LPIN2		Majeed syndrome	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 202983960.	NM_001375808.2(LPIN2):c.99C>T (p.Val33=) GRCh37: Chr18:2960740 GRCh38: Chr18:2960742	LPIN2		Majeed syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 202983261.	NM_001375808.2(LPIN2):c.1710+8A>T GRCh37: Chr18:2927712 GRCh38: Chr18:2927714	LPIN2		Majeed syndrome	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 202485662.	NM_001375808.2(LPIN2):c.1591T>C (p.Leu531=) GRCh37: Chr18:2928618 GRCh38: Chr18:2928620	LPIN2		Majeed syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 202344763.	NM_001375808.2(LPIN2):c.289-20C>T GRCh37: Chr18:2951374 GRCh38: Chr18:2951376	LPIN2		Majeed syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202321564.	NM_001375808.2(LPIN2):c.1938+17_1938+18del GRCh37: Chr18:2925204-2925205 GRCh38: Chr18:2925206-2925207	LPIN2		Majeed syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 201469665.	NM_001375808.2(LPIN2):c.1169-20C>G GRCh37: Chr18:2934468 GRCh38: Chr18:2934470	LPIN2		Majeed syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 201273066.	NM_001375808.2(LPIN2):c.2649G>A (p.Trp883Ter) GRCh37: Chr18:2920333 GRCh38: Chr18:2920335	LPIN2	W883*	Majeed syndrome	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 201263367.	NM_001375808.2(LPIN2):c.1169-7T>G GRCh37: Chr18:2934455 GRCh38: Chr18:2934457	LPIN2		Majeed syndrome	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 201263268.	NM_001375808.2(LPIN2):c.1169-4del GRCh37: Chr18:2934452 GRCh38: Chr18:2934454	LPIN2		Majeed syndrome	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 201244269.	NM_001375808.2(LPIN2):c.2196C>T (p.Tyr732=) GRCh37: Chr18:2922176 GRCh38: Chr18:2922178	LPIN2		Majeed syndrome	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 201098370.	NM_001375808.2(LPIN2):c.2340A>G (p.Glu780=) GRCh37: Chr18:2921633 GRCh38: Chr18:2921635	LPIN2		Majeed syndrome	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 201066571.	NM_001375808.2(LPIN2):c.1954C>T (p.His652Tyr) GRCh37: Chr18:2924529 GRCh38: Chr18:2924531	LPIN2	H652Y	Majeed syndrome	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 200882672.	NM_001375808.2(LPIN2):c.193-14dup GRCh37: Chr18:2954610-2954611 GRCh38: Chr18:2954612-2954613	LPIN2		Majeed syndrome	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 200453373.	NM_001375808.2(LPIN2):c.434C>T (p.Thr145Ile) GRCh37: Chr18:2951209 GRCh38: Chr18:2951211	LPIN2	T145I	Majeed syndrome	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 200353874.	NM_001375808.2(LPIN2):c.699-1G>T GRCh37: Chr18:2939602 GRCh38: Chr18:2939604	LPIN2		Majeed syndrome	Likely pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 199697875.	NM_001375808.2(LPIN2):c.2175-7C>T GRCh37: Chr18:2922204 GRCh38: Chr18:2922206	LPIN2		Majeed syndrome	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 199161776.	NM_001375808.2(LPIN2):c.1168+14T>C GRCh37: Chr18:2937676 GRCh38: Chr18:2937678	LPIN2		Majeed syndrome	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 198767077.	NM_001375808.2(LPIN2):c.1710+7G>C GRCh37: Chr18:2927713 GRCh38: Chr18:2927715	LPIN2		Majeed syndrome	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 198545578.	NM_001375808.2(LPIN2):c.1596A>C (p.Gln532His) GRCh37: Chr18:2928613 GRCh38: Chr18:2928615	LPIN2	Q532H	Majeed syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 198534579.	NM_001375808.2(LPIN2):c.108A>G (p.Val36=) GRCh37: Chr18:2960731 GRCh38: Chr18:2960733	LPIN2		Majeed syndrome	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 198058480.	NM_001375808.2(LPIN2):c.2617C>T (p.Pro873Ser) GRCh37: Chr18:2920365 GRCh38: Chr18:2920367	LPIN2	P873S	Majeed syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 197191481.	NM_001375808.2(LPIN2):c.1621-9T>G GRCh37: Chr18:2927818 GRCh38: Chr18:2927820	LPIN2		Majeed syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 196938282.	NM_001375808.2(LPIN2):c.2088-8C>A GRCh37: Chr18:2923867 GRCh38: Chr18:2923869	LPIN2		Majeed syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 196879283.	NM_001375808.2(LPIN2):c.350A>C (p.Asp117Ala) GRCh37: Chr18:2951293 GRCh38: Chr18:2951295	LPIN2	D117A	Majeed syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 195861184.	NM_001375808.2(LPIN2):c.1417C>A (p.Leu473Ile) GRCh37: Chr18:2931293 GRCh38: Chr18:2931295	LPIN2	L473I	Majeed syndrome	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 195551785.	NM_001375808.2(LPIN2):c.542G>A (p.Cys181Tyr) GRCh37: Chr18:2951101 GRCh38: Chr18:2951103	LPIN2	C181Y	Majeed syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 195272486.	NM_001375808.2(LPIN2):c.1669C>T (p.Arg557Cys) GRCh37: Chr18:2927761 GRCh38: Chr18:2927763	LPIN2	R557C	Majeed syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 195037887.	NM_001375808.2(LPIN2):c.1711-16C>T GRCh37: Chr18:2926819 GRCh38: Chr18:2926821	LPIN2		Majeed syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 194891788.	NM_001375808.2(LPIN2):c.2313C>T (p.Phe771=) GRCh37: Chr18:2922059 GRCh38: Chr18:2922061	LPIN2		Majeed syndrome	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 194547889.	NM_001375808.2(LPIN2):c.1985T>C (p.Ile662Thr) GRCh37: Chr18:2924498 GRCh38: Chr18:2924500	LPIN2	I662T	Majeed syndrome	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 193892290.	NM_001375808.2(LPIN2):c.154T>G (p.Phe52Val) GRCh37: Chr18:2960685 GRCh38: Chr18:2960687	LPIN2	F52V	Majeed syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 193735091.	NM_001375808.2(LPIN2):c.2184C>T (p.Tyr728=) GRCh37: Chr18:2922188 GRCh38: Chr18:2922190	LPIN2		Majeed syndrome	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 193353992.	NM_001375808.2(LPIN2):c.700A>G (p.Thr234Ala) GRCh37: Chr18:2939600 GRCh38: Chr18:2939602	LPIN2	T234A	Majeed syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 193164393.	NM_001375808.2(LPIN2):c.698+1G>A GRCh37: Chr18:2940602 GRCh38: Chr18:2940604	LPIN2		Majeed syndrome	Likely pathogenic (Mar 29, 2020)	criteria provided, single submitter
Select item 193110094.	NM_001375808.2(LPIN2):c.2569G>A (p.Val857Met) GRCh37: Chr18:2920413 GRCh38: Chr18:2920415	LPIN2	V857M	Majeed syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 192129295.	NM_001375808.2(LPIN2):c.895C>T (p.Arg299Trp) GRCh37: Chr18:2937963 GRCh38: Chr18:2937965	LPIN2	R299W	Majeed syndrome	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 191645996.	NM_001375808.2(LPIN2):c.393A>G (p.Pro131=) GRCh37: Chr18:2951250 GRCh38: Chr18:2951252	LPIN2		Majeed syndrome	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 190257697.	NM_001375808.2(LPIN2):c.698+14A>G GRCh37: Chr18:2940589 GRCh38: Chr18:2940591	LPIN2		Majeed syndrome	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 172166098.	NM_001375808.2(LPIN2):c.2060T>C (p.Ile687Thr) GRCh37: Chr18:2924423 GRCh38: Chr18:2924425	LPIN2	I687T	Majeed syndrome	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 171747899.	NM_001375808.2(LPIN2):c.2398C>A (p.Pro800Thr) GRCh37: Chr18:2921575 GRCh38: Chr18:2921577	LPIN2	P800T	Majeed syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 1716712100.	NM_001375808.2(LPIN2):c.413C>T (p.Ser138Leu) GRCh37: Chr18:2951230 GRCh38: Chr18:2951232	LPIN2	S138L	Majeed syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter

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