ClinVar for MedGen (Select 813060) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066177	NM_001008537.3(NEXMIF):c.2506del (p.His836fs)	NEXMIF (H836fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 3024518	NM_001008537.3(NEXMIF):c.1131dup (p.Lys378Ter)	NEXMIF (K378*)	Duplication (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 2689304	NM_001008537.3(NEXMIF):c.2360T>C (p.Phe787Ser)	NEXMIF (F787S)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2689303	NM_001008537.3(NEXMIF):c.1540G>C (p.Gly514Arg)	NEXMIF (G514R)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2682153	NM_001008537.3(NEXMIF):c.2667G>A (p.Trp889Ter)	NEXMIF (W889*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 2627771	NM_001008537.3(NEXMIF):c.1769A>T (p.Lys590Met)	NEXMIF (K590M)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2585591	NM_001008537.3(NEXMIF):c.3507C>A (p.Asn1169Lys)	NEXMIF (N1169K)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2502347	NM_001008537.3(NEXMIF):c.1275_1276delinsAT (p.Gln426Ter)	NEXMIF (Q426*)	Indel (nonsense)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 2441793	NM_001008537.3(NEXMIF):c.1690A>G (p.Ser564Gly)	NEXMIF (S564G)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2434337	NM_001008537.3(NEXMIF):c.1142A>T (p.Asp381Val)	NEXMIF (D381V)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2434336	NM_001008537.3(NEXMIF):c.1598G>C (p.Arg533Pro)	NEXMIF (R533P)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2434335	NM_001008537.3(NEXMIF):c.4004T>C (p.Met1335Thr)	NEXMIF (M1335T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2434334	NM_001008537.3(NEXMIF):c.926C>T (p.Ser309Phe)	NEXMIF (S309F)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2433114	NM_001008537.3(NEXMIF):c.1995T>G (p.His665Gln)	NEXMIF (H665Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2431945	NM_001008537.3(NEXMIF):c.3539C>A (p.Ser1180Ter)	NEXMIF (S1180*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 2028214	NM_001008537.3(NEXMIF):c.2457A>T (p.Leu819Phe)	NEXMIF (L819F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1878588	NM_001008537.3(NEXMIF):c.1993C>T (p.His665Tyr)	NEXMIF (H665Y)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 1805418	NM_001008537.3(NEXMIF):c.348dup (p.Glu117Ter)	NEXMIF (E117*)	Duplication (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1800360	NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)	NEXMIF (R461H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1712510	NM_001008537.3(NEXMIF):c.526A>T (p.Thr176Ser)	NEXMIF (T176S)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 1709199	NM_001008537.3(NEXMIF):c.3859A>T (p.Lys1287Ter)	NEXMIF (K1287*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 1697970	NM_001008537.3(NEXMIF):c.2860C>T (p.Gln954Ter)	NEXMIF (Q954*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1685970	NM_001008537.3(NEXMIF):c.2869C>T (p.Gln957Ter)	NEXMIF (Q957*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1677059	NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter)	NEXMIF (K1198*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 1350395	NM_001008537.3(NEXMIF):c.1813C>G (p.Pro605Ala)	NEXMIF (P605A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341749	NM_001008537.3(NEXMIF):c.1021G>A (p.Val341Ile)	NEXMIF (V341I)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 1338811	NM_001008537.3(NEXMIF):c.3579del (p.Asn1195fs)	NEXMIF (N1195fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1338790	NM_001008537.3(NEXMIF):c.3310G>T (p.Gly1104Ter)	NEXMIF (G1104*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 1334563	NM_001008537.3(NEXMIF):c.792_795del (p.Phe264fs)	NEXMIF (F264fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1325629	NM_001008537.3(NEXMIF):c.3700G>T (p.Gly1234Ter)	NEXMIF (G1234*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1323146	NM_001008537.3(NEXMIF):c.2714C>G (p.Ser905Ter)	NEXMIF (S905*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1301897	NM_001008537.3(NEXMIF):c.3395_3398del (p.Asn1132fs)	NEXMIF (N1132fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 1299508	NM_001008537.3(NEXMIF):c.3409C>T (p.Gln1137Ter)	NEXMIF (Q1137*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1297047	NM_001008537.3(NEXMIF):c.67del (p.Val23fs)	NEXMIF (V23fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 1285547	NM_001008537.3(NEXMIF):c.1763G>A (p.Trp588Ter)	NEXMIF (W588*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1154321	NM_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu)	NEXMIF (I105L)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GConflicting classifications of pathogenicity
Select item 1053522	NM_001008537.3(NEXMIF):c.1877G>A (p.Arg626His)	NEXMIF (R626H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1047354	NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr)	NEXMIF (D229Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1033191	NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter)	NEXMIF (E288*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1033189	NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)	NEXMIF (R1243H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1033188	NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile)	NEXMIF (T929I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1033187	NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter)	NEXMIF (E387*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1030949	NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr)	NEXMIF (A156T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030948	NM_001008537.3(NEXMIF):c.4397A>C (p.His1466Pro)	NEXMIF (H1466P)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 1030947	NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe)	NEXMIF (S1424F)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 1030946	NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr)	NEXMIF (S1146Y)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 1025929	NM_001008537.3(NEXMIF):c.3427G>C (p.Asp1143His)	NEXMIF (D1143H)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GConflicting classifications of pathogenicity
Select item 1022444	NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys)	NEXMIF (E842K)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GUncertain significance
Select item 1012179	NM_001008537.3(NEXMIF):c.1752_1761del (p.Leu584fs)	NEXMIF (L584fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 983444	NM_001008537.3(NEXMIF):c.3244C>T (p.Gln1082Ter)	NEXMIF (Q1082*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 983435	NM_001008537.3(NEXMIF):c.336G>A (p.Trp112Ter)	NEXMIF (W112*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 981238	NM_001008537.3(NEXMIF):c.907C>G (p.Leu303Val)	NEXMIF (L303V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 976706	NM_001008537.3(NEXMIF):c.2683del (p.Ser895fs)	NEXMIF (S895fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 974858	NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs)	NEXMIF (F264fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 953067	NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser)	NEXMIF (N1352S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 918142	NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs)	NEXMIF (D698fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 917878	NM_001008537.3(NEXMIF):c.1456del (p.Val486fs)	NEXMIF (V486fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 804032	NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs)	NEXMIF (A1230fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 759304	NM_001008537.3(NEXMIF):c.2411C>G (p.Thr804Ser)	NEXMIF (T804S)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GConflicting classifications of pathogenicity
Select item 684546	NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His)	NEXMIF (R1423H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 658227	NM_001008537.3(NEXMIF):c.1279G>T (p.Gly427Cys)	NEXMIF (G427C)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GUncertain significance
Select item 653605	NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs)	NEXMIF (N1153fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 646370	NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro)	NEXMIF (S473P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 625966	NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn)	NEXMIF (D1350N)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +3 more	GConflicting classifications of pathogenicity
Select item 620056	NM_001008537.3(NEXMIF):c.280dup (p.Ala94fs)	NEXMIF (A94fs)	Duplication (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 592173	t(X;3)(q13.3;q11.2)dn	NEXMIF	Translocation	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 590127	NM_001008537.3(NEXMIF):c.653G>A (p.Arg218Gln)	NEXMIF (R218Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GLikely benign
Select item 589350	NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp)	NEXMIF (G148D)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GUncertain significance
Select item 579471	NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro)	NEXMIF (L788P)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GUncertain significance
Select item 574171	NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln)	NEXMIF (H836Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GUncertain significance
Select item 561042	NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs)	NEXMIF (S963fs)	Microsatellite (frameshift variant)	X-linked intellectual disability, Cantagrel type +1 more	GPathogenic
Select item 560258	NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro)	NEXMIF (S869P)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 541127	NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala)	NEXMIF (T597A)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 541119	NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg)	NEXMIF (S747R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 521125	NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp)	NEXMIF (E778W)	Indel (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GUncertain significance
Select item 520765	NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe)	NEXMIF (L1068F)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GUncertain significance
Select item 496670	NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs)	NEXMIF (S1359fs)	Duplication (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 474073	NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly)	NEXMIF (S1275G)	Single nucleotide variant (missense variant)	NEXMIF-related condition +3 more	GConflicting classifications of pathogenicity
Select item 474071	NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu)	NEXMIF (M1237L)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GBenign/Likely benign
Select item 474070	NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs)	NEXMIF (K1199fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 474060	NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs)	NEXMIF (F722fs)	Indel (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 438479	NM_001008537.3(NEXMIF):c.2042del (p.Gly681fs)	NEXMIF (G681fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 438478	NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter)	NEXMIF (R322*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 438477	NM_001008537.3(NEXMIF):c.438C>A (p.Cys146Ter)	NEXMIF (C146*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 435602	NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs)	NEXMIF (R533fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type +1 more	GPathogenic
Select item 435594	NM_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=)	NEXMIF	Single nucleotide variant (synonymous variant)	X-linked intellectual disability, Cantagrel type +2 more	GLikely benign
Select item 397512	NM_001008537.3(NEXMIF):c.3470C>A (p.Ser1157Ter)	NEXMIF (S1157*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 374404	NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer)	NEXMIF	Deletion (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 374403	NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs)	NEXMIF (G1417fs)	Duplication (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 280835	NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter)	NEXMIF (R348*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 280599	NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs)	NEXMIF (E375fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type +1 more	GPathogenic/Likely pathogenic
Select item 280509	NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter)	NEXMIF (R481*)	Single nucleotide variant (nonsense)	not specified +2 more	GPathogenic
Select item 242327	NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter)	NEXMIF (R313*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 242323	NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter)	NEXMIF (R218*)	Single nucleotide variant (nonsense)	Continuous spike and waves during slow sleep +2 more	GPathogenic
Select item 224106	NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs)	NEXMIF (S1000fs)	Microsatellite (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 211263	NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs)	NEXMIF (E925fs)	Insertion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 190220	NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)	NEXMIF (R628*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type +2 more	GPathogenic
Select item 167215	NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs)	NEXMIF (R528fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 88755	NM_001008537.3(NEXMIF):c.183del (p.Arg62fs)	NEXMIF (R62fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 88754	NC_000023.11:g.(74745698_74924882)_(74925453_?)dup	LOC130068445, LOC130068446 +3 more	Duplication	X-linked intellectual disability, Cantagrel type	GPathogenic

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