ClinVar for MedGen (Select 337334) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3028897	NM_001079872.2(CUL4B):c.695dup (p.Tyr232Ter)	CUL4B (Y232* +3 more)	Duplication (nonsense)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 3024245	NM_001079872.2(CUL4B):c.516del (p.Lys172fs)	CUL4B, LOC113845788 (K172fs +2 more)	Deletion (frameshift variant)	X-linked intellectual disability Cabezas type	GPathogenic
Select item 3005073	NM_001079872.2(CUL4B):c.777-11A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2986032	NM_001079872.2(CUL4B):c.1256+18A>T	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2973993	NM_001079872.2(CUL4B):c.819A>G (p.Arg273=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2919053	NM_001079872.2(CUL4B):c.1083A>G (p.Gln361=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2905976	NM_001079872.2(CUL4B):c.1071G>A (p.Leu357=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2894364	NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type +1 more	GBenign/Likely benign
Select item 2892426	NM_001079872.2(CUL4B):c.481TCT[1] (p.Ser162del)	CUL4B, LOC113845788 (S180del +2 more)	Microsatellite (inframe_deletion)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2887634	NM_001079872.2(CUL4B):c.925A>T (p.Met309Leu)	CUL4B (M314L +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2885218	NM_001079872.2(CUL4B):c.1939-4A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2878426	NM_001079872.2(CUL4B):c.1636+11C>T	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2874660	NM_001079872.2(CUL4B):c.556+9G>C	CUL4B, LOC113845788	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2870477	NM_003588.4(CUL4B):c.46G>C (p.Ala16Pro)	CUL4B (A16P)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2868144	NM_001079872.2(CUL4B):c.672+13A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2856284	NM_001079872.2(CUL4B):c.69C>T (p.Ala23=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2827929	NM_001079872.2(CUL4B):c.1853-13A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2818516	NM_001079872.2(CUL4B):c.15T>C (p.Gly5=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2768204	NM_001079872.2(CUL4B):c.220G>A (p.Asp74Asn)	CUL4B, LOC113845788 (D92N +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2760544	NM_001079872.2(CUL4B):c.1939-19T>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2739968	NM_001079872.2(CUL4B):c.573A>G (p.Pro191=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2725563	NM_001079872.2(CUL4B):c.2322T>G (p.Val774=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2723754	NM_001079872.2(CUL4B):c.307T>C (p.Phe103Leu)	CUL4B, LOC113845788 (F108L +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2715651	NM_001079872.2(CUL4B):c.2592+3A>T	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2713413	NM_001079872.2(CUL4B):c.1308A>G (p.Thr436=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2712473	NM_001079872.2(CUL4B):c.496T>C (p.Ser166Pro)	CUL4B, LOC113845788 (S166P +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2708826	NM_001079872.2(CUL4B):c.811A>T (p.Ile271Phe)	CUL4B (I289F +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2702101	NM_001079872.2(CUL4B):c.355G>T (p.Glu119Ter)	CUL4B, LOC113845788 (E119* +2 more)	Single nucleotide variant (nonsense)	X-linked intellectual disability Cabezas type	GPathogenic
Select item 2683923	NM_001079872.2(CUL4B):c.1444-1G>A	CUL4B	Single nucleotide variant (splice acceptor variant)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 2637967	NM_001079872.2(CUL4B):c.2356G>A (p.Asp786Asn)	CUL4B (D608N +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2637939	NM_001079872.2(CUL4B):c.197C>A (p.Ser66Tyr)	CUL4B, LOC113845788 (S66Y +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2626897	NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)	CUL4B, LOC113845788 (T61fs +2 more)	Deletion (frameshift variant)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 2585498	NM_001079872.2(CUL4B):c.279C>A (p.Ser93Arg)	CUL4B, LOC113845788 (S98R +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2582550	NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly)	CUL4B, LOC113845788 (A114G +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2506462	NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)	CUL4B	Deletion (nonsense)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 2502162	NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2444279	NM_001079872.2(CUL4B):c.2404A>T (p.Arg802Trp)	CUL4B (R624W +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2441956	NM_001079872.2(CUL4B):c.911C>T (p.Pro304Leu)	CUL4B (P126L +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2440628	NM_001079872.2(CUL4B):c.1852+3A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2440627	NM_001079872.2(CUL4B):c.988G>C (p.Asp330His)	CUL4B (D152H +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2440625	NM_001079872.2(CUL4B):c.920+9G>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type +1 more	GConflicting classifications of pathogenicity
Select item 2424705	NC_000023.10:g.(?_117629935)_(119761021_?)del	AKAP14, ATP1B4 +27 more	Deletion	X-linked intellectual disability Cabezas type	GPathogenic
Select item 2417286	NM_001079872.2(CUL4B):c.954T>C (p.Ile318=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2202433	NM_001079872.2(CUL4B):c.366C>T (p.Ser122=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	CUL4B-related condition +1 more	GBenign/Likely benign
Select item 2198993	NM_001079872.2(CUL4B):c.2046+6A>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2179238	NM_001079872.2(CUL4B):c.557-11A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2163397	NM_001079872.2(CUL4B):c.1030G>A (p.Ala344Thr)	CUL4B (A166T +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2157188	NM_001079872.2(CUL4B):c.2506A>G (p.Ile836Val)	CUL4B (I658V +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2149903	NM_001079872.2(CUL4B):c.1452C>G (p.Gly484=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2148840	NM_001079872.2(CUL4B):c.776+13A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2141907	NM_001079872.2(CUL4B):c.1392A>G (p.Arg464=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2141066	NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)	CUL4B (M675V +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type +1 more	GBenign/Likely benign
Select item 2138711	NM_001079872.2(CUL4B):c.932T>A (p.Leu311Gln)	CUL4B (L329Q +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2132785	NM_001079872.2(CUL4B):c.2390A>T (p.Lys797Ile)	CUL4B (K619I +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2132132	NM_001079872.2(CUL4B):c.984A>G (p.Thr328=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2126757	NM_001079872.2(CUL4B):c.1173+16G>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2115193	NM_001079872.2(CUL4B):c.243G>T (p.Ser81=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2110511	NM_001079872.2(CUL4B):c.2160+8G>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2096958	NM_001079872.2(CUL4B):c.1389T>C (p.Ser463=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2076534	NM_001079872.2(CUL4B):c.76G>A (p.Gly26Ser)	CUL4B, LOC113845788 (G26S +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2075635	NM_001079872.2(CUL4B):c.1853-19G>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2072439	NM_001079872.2(CUL4B):c.1130G>A (p.Arg377Gln)	CUL4B (R395Q +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2057642	NM_001079872.2(CUL4B):c.776+12A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2053758	NM_001079872.2(CUL4B):c.783A>G (p.Ser261=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2026159	NM_001079872.2(CUL4B):c.2439+11C>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2025726	NM_001079872.2(CUL4B):c.672+18T>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2013669	NM_001079872.2(CUL4B):c.188C>T (p.Ser63Phe)	CUL4B, LOC113845788 (S81F +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2008234	NM_001079872.2(CUL4B):c.695A>T (p.Tyr232Phe)	CUL4B (Y54F +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2000037	NM_001079872.2(CUL4B):c.2118G>A (p.Gln706=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1980004	NM_001079872.2(CUL4B):c.510C>T (p.Asn170=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1949818	NM_001079872.2(CUL4B):c.1399G>T (p.Gly467Cys)	CUL4B (G289C +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1933010	NM_001079872.2(CUL4B):c.2290C>T (p.Leu764=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1916607	NM_001079872.2(CUL4B):c.378A>C (p.Ser126=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type +1 more	GLikely benign
Select item 1914133	NM_001079872.2(CUL4B):c.519T>G (p.Pro173=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 1912493	NM_001079872.2(CUL4B):c.1044T>C (p.Ser348=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1903777	NM_001079872.2(CUL4B):c.141CAG[3] (p.Ser49_Asn50insSer)	CUL4B, LOC113845788	Microsatellite (inframe_insertion)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1897074	NM_001079872.2(CUL4B):c.224C>T (p.Ser75Leu)	CUL4B, LOC113845788 (S75L +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1895714	NM_003588.4(CUL4B):c.5T>C (p.Met2Thr)	CUL4B (M2T)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1803957	NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)	CUL4B (E578* +3 more)	Duplication (nonsense)	X-linked intellectual disability Cabezas type	GPathogenic
Select item 1755003	NM_003588.4(CUL4B):c.67+10T>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type +1 more	GConflicting classifications of pathogenicity
Select item 1752121	NM_001079872.2(CUL4B):c.1164A>G (p.Gln388=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition +2 more	GBenign/Likely benign
Select item 1715235	NM_001079872.2(CUL4B):c.1747G>T (p.Asp583Tyr)	CUL4B (D405Y +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1709716	NM_001079872.2(CUL4B):c.1423del (p.Gln475fs)	CUL4B (Q297fs +3 more)	Deletion (frameshift variant)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 1709339	NM_001079872.2(CUL4B):c.986T>C (p.Ile329Thr)	CUL4B (I151T +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1699504	NM_001079872.2(CUL4B):c.2092C>T (p.His698Tyr)	CUL4B (H520Y +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1699392	NM_003588.4(CUL4B):c.29A>C (p.Asp10Ala)	CUL4B (D10A)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1699195	NM_001079872.2(CUL4B):c.881G>T (p.Arg294Ile)	CUL4B (R116I +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1687214	NM_001079872.2(CUL4B):c.1835T>C (p.Leu612Pro)	CUL4B (L434P +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1679382	NM_001079872.2(CUL4B):c.1157T>C (p.Leu386Ser)	CUL4B (L208S +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1676570	NM_003588.4(CUL4B):c.2493G>A (p.Thr831=)	CUL4B	Single nucleotide variant	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 1661740	NM_001079872.2(CUL4B):c.2593-18A>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1609573	NM_001079872.2(CUL4B):c.270T>C (p.Ala90=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	CUL4B-related condition +1 more	GLikely benign
Select item 1599124	NM_001079872.2(CUL4B):c.2161-15T>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 1596850	NM_001079872.2(CUL4B):c.1257-19T>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 1535385	NM_001079872.2(CUL4B):c.1444-4T>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1475318	NM_001079872.2(CUL4B):c.164G>A (p.Arg55Lys)	CUL4B, LOC113845788 (R55K +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1474560	NM_001079872.2(CUL4B):c.1480G>A (p.Asp494Asn)	CUL4B (D316N +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1470334	NM_001079872.2(CUL4B):c.2677dup (p.Tyr893fs)	CUL4B (Y715fs +3 more)	Duplication (frameshift variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1344895	NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn)	CUL4B (D706N +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1337302	NM_001079872.2(CUL4B):c.37GCT[6] (p.Ala17dup)	CUL4B, LOC113845788	Microsatellite (inframe_insertion)	not specified +1 more	GUncertain significance

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