ClinVar for MedGen (Select 1648498) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 131

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3586719	NM_001190274.2(FBXO11):c.2583_2594del (p.Asn862_Cys865del)	FBXO11, MSH6	Deletion (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 3393449	NM_001190274.2(FBXO11):c.2147_2150del (p.Thr716fs)	FBXO11 (T716fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 3393349	NM_001190274.2(FBXO11):c.1931A>G (p.Tyr644Cys)	FBXO11 (Y560C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 3393036	NM_001190274.2(FBXO11):c.2138G>A (p.Trp713Ter)	FBXO11 (W629* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 3391065	NM_001190274.2(FBXO11):c.1042-1G>A	FBXO11	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 3385392	NM_001190274.2(FBXO11):c.2681C>T (p.Thr894Ile)	FBXO11, MSH6 (T810I +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 3383227	NM_001190274.2(FBXO11):c.1153+1G>A	FBXO11	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 3382802	NM_001190274.2(FBXO11):c.1774G>T (p.Gly592Cys)	FBXO11 (G508C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 3377013	NM_001190274.2(FBXO11):c.1646GAG[1] (p.Gly550del)	FBXO11 (G466del +1 more)	Microsatellite	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 3376470	NM_001190274.2(FBXO11):c.2654+5G>A	FBXO11, MSH6	Single nucleotide variant (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 3376424	NM_001190274.2(FBXO11):c.792_801+5delinsT	FBXO11	Indel (splice donor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 3237512	NM_001190274.2(FBXO11):c.2338+5G>C	FBXO11	Single nucleotide variant (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 3233334	NM_001190274.2(FBXO11):c.188C>T (p.Pro63Leu)	FBXO11 (P63L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 3068486	NM_001190274.2(FBXO11):c.2768C>G (p.Thr923Arg)	FBXO11, MSH6 (T839R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2691888	NM_001190274.2(FBXO11):c.1844A>G (p.Asn615Ser)	FBXO11 (N531S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2689059	NM_001190274.2(FBXO11):c.963A>G (p.Ile321Met)	FBXO11 (I237M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2683987	NM_001190274.2(FBXO11):c.1507G>A (p.Gly503Arg)	FBXO11 (G419R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2664883	NM_001190274.2(FBXO11):c.245C>T (p.Pro82Leu)	FBXO11 (P82L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2664856	NM_001190274.2(FBXO11):c.1352T>C (p.Ile451Thr)	FBXO11 (I367T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2577348	NM_001190274.2(FBXO11):c.2728G>T (p.Asp910Tyr)	FBXO11, MSH6 (D826Y +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2502361	NM_001190274.2(FBXO11):c.1921-7A>G	FBXO11	Single nucleotide variant (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2444360	NM_001190274.2(FBXO11):c.1079C>G (p.Ala360Gly)	FBXO11 (A276G +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2444072	NM_001190274.2(FBXO11):c.2227+3A>G	FBXO11	Single nucleotide variant (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441756	NM_001190274.2(FBXO11):c.2542C>T (p.His848Tyr)	FBXO11, MSH6 (H764Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441648	NM_001190274.2(FBXO11):c.1484G>A (p.Cys495Tyr)	FBXO11 (C411Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441398	NM_001190274.2(FBXO11):c.274C>G (p.Pro92Ala)	FBXO11 (P8A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441397	NM_001190274.2(FBXO11):c.2161A>G (p.Thr721Ala)	FBXO11 (T637A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441396	NM_001190274.2(FBXO11):c.1607C>G (p.Pro536Arg)	FBXO11 (P452R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441395	NM_001190274.2(FBXO11):c.1643A>T (p.Gln548Leu)	FBXO11 (Q464L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441394	NM_001190274.2(FBXO11):c.504C>G (p.Phe168Leu)	FBXO11 (F168L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2431534	NM_001190274.2(FBXO11):c.1787G>A (p.Gly596Glu)	FBXO11 (G512E +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2431463	NM_001190274.2(FBXO11):c.1981_1983del (p.His661del)	FBXO11 (H577del +1 more)	Deletion (inframe_deletion)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2430268	NM_001190274.2(FBXO11):c.2084-93_2084-1del	FBXO11	Deletion (splice acceptor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2430099	NM_001190274.2(FBXO11):c.2747C>T (p.Ala916Val)	FBXO11, MSH6 (A832V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2231438	NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs)	FBXO11, MSH6 (H907fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GLikely pathogenic
Select item 2139730	NM_001190274.2(FBXO11):c.1702+6C>T	FBXO11	Single nucleotide variant (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GUncertain significance
Select item 2101567	NM_001190274.2(FBXO11):c.571A>G (p.Asn191Asp)	FBXO11 (N191D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GUncertain significance
Select item 1938231	NM_001190274.2(FBXO11):c.174GCC[6] (p.Pro66_Leu67insProProPro)	FBXO11	Microsatellite	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 1914745	NM_001190274.2(FBXO11):c.863T>C (p.Ile288Thr)	FBXO11 (I288T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1895453	NM_001190274.2(FBXO11):c.1669G>A (p.Gly557Arg)	FBXO11 (G473R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1803736	NM_001190274.2(FBXO11):c.2666A>T (p.Asp889Val)	FBXO11, MSH6 (D805V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1799565	NM_001190274.2(FBXO11):c.130C>T (p.Gln44Ter)	FBXO11, LOC100506235 (Q44*)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1710209	NM_001190274.2(FBXO11):c.2732C>A (p.Thr911Lys)	FBXO11, MSH6 (T827K +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1709225	NM_001190274.2(FBXO11):c.166C>T (p.Gln56Ter)	FBXO11, LOC100506235 (Q56*)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1708215	NM_001190274.2(FBXO11):c.2732_2738del (p.Thr911fs)	FBXO11, MSH6 (T827fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1698962	NM_001190274.2(FBXO11):c.1272G>C (p.Glu424Asp)	FBXO11 (E340D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1679302	NM_001190274.2(FBXO11):c.1783G>A (p.Gly595Ser)	FBXO11 (G511S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1639995	NM_001190274.2(FBXO11):c.233-19T>C	FBXO11	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1598717	NM_001190274.2(FBXO11):c.1617-4A>G	FBXO11	Single nucleotide variant (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GBenign/Likely benign
Select item 1590735	NM_001190274.2(FBXO11):c.134_157del (p.Pro45_Gln52del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1527977	NM_001190274.2(FBXO11):c.657C>G (p.Tyr219Ter)	FBXO11 (Y135* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1459381	NM_001190274.2(FBXO11):c.37C>T (p.Arg13Ter)	FBXO11, LOC100506235 (R13*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1375464	NM_001190274.2(FBXO11):c.376A>G (p.Thr126Ala)	FBXO11 (T42A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1339888	NM_001190274.2(FBXO11):c.2084G>A (p.Gly695Asp)	FBXO11 (G611D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	Gnot provided
Select item 1333810	NM_001190274.2(FBXO11):c.84dup (p.Gln29fs)	FBXO11, LOC100506235 (Q29fs)	Duplication (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1333809	NM_001190274.2(FBXO11):c.422G>A (p.Gly141Glu)	FBXO11 (G141E +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1329979	NM_001190274.2(FBXO11):c.1504A>C (p.Thr502Pro)	FBXO11 (T418P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329978	NM_001190274.2(FBXO11):c.2075A>T (p.Tyr692Phe)	FBXO11 (Y608F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329977	NM_001190274.2(FBXO11):c.2748_2749del (p.Pro917fs)	FBXO11, MSH6 (P833fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329976	NM_001190274.2(FBXO11):c.1830T>G (p.Asn610Lys)	FBXO11 (N526K +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329975	NM_001190274.2(FBXO11):c.2392AAC[1] (p.Asn799del)	FBXO11, MSH6 (N715del +1 more)	Microsatellite (inframe_deletion)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329974	NM_001190274.2(FBXO11):c.1543_1557del (p.Phe515_Lys519del)	FBXO11	Deletion (inframe_deletion)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329973	NM_001190274.2(FBXO11):c.1967A>G (p.Asn656Ser)	FBXO11 (N572S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329972	NM_001190274.2(FBXO11):c.668del (p.Pro223fs)	FBXO11 (P139fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329971	NM_001190274.2(FBXO11):c.2060G>A (p.Gly687Asp)	FBXO11 (G603D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329969	NM_001190274.2(FBXO11):c.606A>C (p.Glu202Asp)	FBXO11 (E118D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329968	NM_001190274.2(FBXO11):c.1517A>G (p.Tyr506Cys)	FBXO11 (Y422C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329967	NM_001190274.2(FBXO11):c.1781A>G (p.His594Arg)	FBXO11 (H510R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329966	NM_001190274.2(FBXO11):c.1798-1G>A	FBXO11	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329965	NM_001190274.2(FBXO11):c.2568_2572del (p.Asn857fs)	FBXO11, MSH6 (N773fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329964	NM_001190274.2(FBXO11):c.552del (p.Lys184fs)	FBXO11 (K100fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329963	NM_001190274.2(FBXO11):c.2520_2521del (p.Ser841fs)	FBXO11, MSH6 (S757fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329962	NM_001190274.2(FBXO11):c.2570_2572del (p.Asn857del)	FBXO11, MSH6 (N773del +1 more)	Deletion (inframe_deletion)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329961	NM_001190274.2(FBXO11):c.2074T>A (p.Tyr692Asn)	FBXO11 (Y608N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329960	NM_001190274.2(FBXO11):c.2592_2593del (p.Ile864fs)	FBXO11, MSH6 (I780fs +1 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GPathogenic
Select item 1329942	NM_001190274.2(FBXO11):c.2688_2699del (p.Asn897_Thr900del)	FBXO11, MSH6	Deletion (inframe_deletion)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1329875	NM_001190274.2(FBXO11):c.2729A>T (p.Asp910Val)	FBXO11, MSH6 (D826V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329874	NM_001190274.2(FBXO11):c.1949A>C (p.His650Pro)	FBXO11 (H566P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329873	NM_001190274.2(FBXO11):c.2125A>G (p.Met709Val)	FBXO11 (M625V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329872	NM_001190274.2(FBXO11):c.554G>A (p.Arg185His)	FBXO11 (R101H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329871	NM_001190274.2(FBXO11):c.1261G>A (p.Gly421Arg)	FBXO11 (G337R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329870	NM_001190274.2(FBXO11):c.404A>G (p.Lys135Arg)	FBXO11 (K135R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329869	NM_001190274.2(FBXO11):c.500TCT[1] (p.Phe168del)	FBXO11 (F168del +1 more)	Microsatellite (inframe_deletion)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GPathogenic
Select item 1329868	NM_001190274.2(FBXO11):c.1645G>A (p.Gly549Arg)	FBXO11 (G465R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329867	NM_001190274.2(FBXO11):c.412A>G (p.Arg138Gly)	FBXO11 (R138G +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329866	NM_001190274.2(FBXO11):c.1696del (p.Ile566fs)	FBXO11 (I482fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329865	NM_001190274.2(FBXO11):c.588-2A>G	FBXO11	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329864	NM_001190274.2(FBXO11):c.2338+1G>A	FBXO11	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329863	NM_001190274.2(FBXO11):c.2224C>T (p.Arg742Ter)	FBXO11 (R658* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 1329862	NM_001190274.2(FBXO11):c.1797+1G>A	FBXO11	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329861	NM_001190274.2(FBXO11):c.1733C>G (p.Thr578Arg)	FBXO11 (T494R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1328234	NM_001190274.2(FBXO11):c.2074T>G (p.Tyr692Asp)	FBXO11 (Y608D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1321264	NM_001190274.2(FBXO11):c.233-4A>G	FBXO11	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1297476	NM_001190274.2(FBXO11):c.149A>G (p.Gln50Arg)	FBXO11, LOC100506235 (Q50R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1285263	NM_001190274.2(FBXO11):c.2083+20dup	FBXO11	Duplication (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GBenign
Select item 1098667	NM_001190274.2(FBXO11):c.2443_2446+5del	FBXO11, MSH6	Deletion (splice donor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1057530	NM_001190274.2(FBXO11):c.1340G>A (p.Arg447Lys)	FBXO11 (R363K +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GUncertain significance
Select item 1031221	NM_001190274.2(FBXO11):c.626C>G (p.Pro209Arg)	FBXO11 (P125R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1031220	NM_001190274.2(FBXO11):c.2338+2T>C	FBXO11	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1031219	NM_001190274.2(FBXO11):c.172C>G (p.Pro58Ala)	FBXO11 (P58A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance

<< First< Prev

Page of 2