ClinVar for MedGen (Select 351273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242757	NC_000018.9:g.(?_2784428)_(2921665_?)dup	EMILIN2, LPIN2 +1 more	Duplication	Majeed syndrome	GUncertain significance
Select item 3064410	NM_001375808.2(LPIN2):c.1871del (p.Thr624fs)	LPIN2 (T624fs)	Deletion (frameshift variant)	Majeed syndrome	GLikely pathogenic
Select item 3023693	NM_001375808.2(LPIN2):c.609C>T (p.Ser203=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 3018773	NM_001375808.2(LPIN2):c.2682C>T (p.Asp894=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 3018459	NM_001375808.2(LPIN2):c.1621-15G>A	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 3016611	NM_001375808.2(LPIN2):c.1323C>G (p.Ser441=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 3012182	NM_001375808.2(LPIN2):c.2667A>G (p.Glu889=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 3011393	NM_001375808.2(LPIN2):c.1901C>T (p.Ser634Leu)	LPIN2 (S634L)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 3011232	NM_001375808.2(LPIN2):c.1793+15C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 3010212	NM_001375808.2(LPIN2):c.2217C>T (p.Gly739=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 3009910	NM_001375808.2(LPIN2):c.2547-15C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2993663	NM_001375808.2(LPIN2):c.698+13G>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2990821	NM_001375808.2(LPIN2):c.1938+15A>G	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2985412	NM_001375808.2(LPIN2):c.2283C>A (p.Gly761=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2984744	NM_001375808.2(LPIN2):c.1938+1G>A	LPIN2	Single nucleotide variant (splice donor variant)	Majeed syndrome	GLikely pathogenic
Select item 2981368	NM_001375808.2(LPIN2):c.289-18T>C	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2971762	NM_001375808.2(LPIN2):c.1939-15dup	LPIN2	Duplication (intron variant)	Majeed syndrome	GLikely benign
Select item 2971281	NM_001375808.2(LPIN2):c.2174+12C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2966404	NM_001375808.2(LPIN2):c.1550+11C>G	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2962645	NM_001375808.2(LPIN2):c.1457-21_1457-18del	LPIN2	Deletion (intron variant)	Majeed syndrome	GLikely benign
Select item 2961685	NM_001375808.2(LPIN2):c.2546+14C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2957398	NM_001375808.2(LPIN2):c.2529C>T (p.Thr843=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2957243	NM_001375808.2(LPIN2):c.411C>T (p.Ile137=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2921227	NM_001375808.2(LPIN2):c.1786G>A (p.Gly596Ser)	LPIN2 (G596S)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2920852	NM_001375808.2(LPIN2):c.151C>T (p.Arg51Trp)	LPIN2 (R51W)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2915824	NM_001375808.2(LPIN2):c.2442+12C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2911315	NM_001375808.2(LPIN2):c.2088-13A>G	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2908491	NM_001375808.2(LPIN2):c.1422C>T (p.Cys474=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2900741	NM_001375808.2(LPIN2):c.2103A>G (p.Gly701=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2891647	NM_001375808.2(LPIN2):c.1201G>C (p.Asp401His)	LPIN2 (D401H)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2883914	NM_001375808.2(LPIN2):c.2475A>G (p.Pro825=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2879766	NM_001375808.2(LPIN2):c.2546+16G>C	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2878818	NM_001375808.2(LPIN2):c.2547-16C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2874765	NM_001375808.2(LPIN2):c.60G>A (p.Lys20=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2871461	NM_001375808.2(LPIN2):c.590+7C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2861341	NM_001375808.2(LPIN2):c.1894A>G (p.Thr632Ala)	LPIN2 (T632A)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2857012	NM_001375808.2(LPIN2):c.1710+15G>C	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2845941	NM_001375808.2(LPIN2):c.1551-5C>G	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2839041	NM_001375808.2(LPIN2):c.1767C>A (p.Ser589=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2837915	NM_001375808.2(LPIN2):c.1254T>C (p.Leu418=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2834354	NM_001375808.2(LPIN2):c.1962C>T (p.Gly654=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2833854	NM_001375808.2(LPIN2):c.2088-9T>C	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2831944	NM_001375808.2(LPIN2):c.1894A>C (p.Thr632Pro)	LPIN2 (T632P)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2825183	NM_001375808.2(LPIN2):c.99C>A (p.Val33=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2823920	NM_001375808.2(LPIN2):c.2328-6dup	LPIN2	Duplication (intron variant)	Majeed syndrome	GBenign
Select item 2818882	NM_001375808.2(LPIN2):c.1320C>G (p.Gly440=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2817190	NM_001375808.2(LPIN2):c.1497A>G (p.Ala499=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2816132	NM_001375808.2(LPIN2):c.2181C>G (p.Gly727=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2812614	NM_001375808.2(LPIN2):c.2328-6T>A	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2809316	NM_001375808.2(LPIN2):c.2598G>A (p.Lys866=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2808631	NM_001375808.2(LPIN2):c.696G>A (p.Glu232=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2805494	NM_001375808.2(LPIN2):c.2415C>T (p.Phe805=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2800502	NM_001375808.2(LPIN2):c.2547-5_2547-4del	LPIN2	Microsatellite (intron variant)	Majeed syndrome	GLikely benign
Select item 2795303	NM_001375808.2(LPIN2):c.2088-10dup	LPIN2	Duplication (intron variant)	Majeed syndrome	GLikely benign
Select item 2793849	NM_001375808.2(LPIN2):c.1062G>A (p.Gln354=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2791154	NM_001375808.2(LPIN2):c.2175-12G>C	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2784768	NM_001375808.2(LPIN2):c.822+18C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2784755	NM_001375808.2(LPIN2):c.289-1G>T	LPIN2	Single nucleotide variant (splice acceptor variant)	Majeed syndrome	GLikely pathogenic
Select item 2779125	NM_001375808.2(LPIN2):c.2353A>G (p.Lys785Glu)	LPIN2 (K785E)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2775568	NM_001375808.2(LPIN2):c.1268+11C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2771435	NM_001375808.2(LPIN2):c.753T>G (p.Pro251=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2771321	NM_001375808.2(LPIN2):c.84T>C (p.Ser28=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2771204	NM_001375808.2(LPIN2):c.1269-18C>G	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2769904	NM_001375808.2(LPIN2):c.689del (p.Pro230fs)	LPIN2 (P230fs)	Deletion (frameshift variant)	Majeed syndrome	GPathogenic
Select item 2768517	NM_001375808.2(LPIN2):c.1506T>A (p.Pro502=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2767652	NM_001375808.2(LPIN2):c.289-6C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2760513	NM_001375808.2(LPIN2):c.1673G>A (p.Trp558Ter)	LPIN2 (W558*)	Single nucleotide variant (nonsense)	Majeed syndrome	GPathogenic
Select item 2759424	NM_001375808.2(LPIN2):c.1783G>T (p.Ala595Ser)	LPIN2 (A595S)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2753279	NM_001375808.2(LPIN2):c.897G>C (p.Arg299=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2750256	NM_001375808.2(LPIN2):c.2546+13T>C	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2747416	NM_001375808.2(LPIN2):c.2640C>G (p.Phe880Leu)	LPIN2 (F880L)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2747233	NM_001375808.2(LPIN2):c.193-9C>A	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2745437	NM_001375808.2(LPIN2):c.475A>T (p.Arg159Ter)	LPIN2 (R159*)	Single nucleotide variant (nonsense)	Majeed syndrome	GPathogenic
Select item 2744315	NM_001375808.2(LPIN2):c.193-14T>G	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2736065	NM_001375808.2(LPIN2):c.1116G>C (p.Ala372=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2729601	NM_001375808.2(LPIN2):c.1939-19T>G	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2727951	NM_001375808.2(LPIN2):c.1620+8G>A	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2721061	NM_001375808.2(LPIN2):c.562G>A (p.Asp188Asn)	LPIN2 (D188N)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2717717	NM_001375808.2(LPIN2):c.1749_1781del (p.Ser585_Ala595del)	LPIN2	Deletion (inframe_deletion)	Majeed syndrome	GUncertain significance
Select item 2701922	NM_001375808.2(LPIN2):c.1550+8C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2701175	NM_001375808.2(LPIN2):c.1794-12A>C	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2695533	NM_001375808.2(LPIN2):c.807C>T (p.Phe269=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2694926	NM_001375808.2(LPIN2):c.402T>C (p.Ser134=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2693025	NM_001375808.2(LPIN2):c.330T>C (p.Thr110=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2689379	NM_001375808.2(LPIN2):c.1228G>C (p.Gly410Arg)	LPIN2 (G410R)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2689378	NM_001375808.2(LPIN2):c.2609C>T (p.Ser870Phe)	LPIN2 (S870F)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433507	NM_001375808.2(LPIN2):c.689C>T (p.Pro230Leu)	LPIN2 (P230L)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433506	NM_001375808.2(LPIN2):c.659A>G (p.His220Arg)	LPIN2 (H220R)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433505	NM_001375808.2(LPIN2):c.1915C>G (p.Leu639Val)	LPIN2 (L639V)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433504	NM_001375808.2(LPIN2):c.1135G>A (p.Ala379Thr)	LPIN2 (A379T)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433503	NM_001375808.2(LPIN2):c.622G>A (p.Glu208Lys)	LPIN2 (E208K)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433502	NM_001375808.2(LPIN2):c.1997A>G (p.Tyr666Cys)	LPIN2 (Y666C)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433501	NM_001375808.2(LPIN2):c.595T>C (p.Ser199Pro)	LPIN2 (S199P)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2428598	NM_001375808.2(LPIN2):c.631G>C (p.Glu211Gln)	LPIN2 (E211Q)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2425962	NC_000018.9:g.(?_2656075)_(2960838_?)del	EMILIN2, LPIN2 +1 more	Deletion	Majeed syndrome	GPathogenic
Select item 2416235	NM_001375808.2(LPIN2):c.1986T>C (p.Ile662=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome	GLikely benign
Select item 2196817	NM_001375808.2(LPIN2):c.934G>C (p.Glu312Gln)	LPIN2 (E312Q)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2190580	NM_001375808.2(LPIN2):c.1268+16T>C	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 2186465	NM_001375808.2(LPIN2):c.2456A>G (p.Tyr819Cys)	LPIN2 (Y819C)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2181040	NM_001375808.2(LPIN2):c.1457-20ATT[2]	LPIN2	Microsatellite (intron variant)	Majeed syndrome	GLikely benign

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