ClinVar for MedGen (Select 767362) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367144	NM_020699.4(GATAD2B):c.1405del (p.Leu469fs)	GATAD2B (L469fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 3341330	NM_020699.4(GATAD2B):c.1762T>G (p.Ser588Ala)	GATAD2B (S588A)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GUncertain significance
Select item 3338232	NM_020699.4(GATAD2B):c.443C>A (p.Ala148Glu)	GATAD2B (A148E)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GBenign
Select item 3255602	NM_020699.4(GATAD2B):c.1077_1089del (p.Gln359fs)	GATAD2B (Q359fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 3254776	NM_020699.4(GATAD2B):c.251_257del (p.Arg84fs)	GATAD2B (R84fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 3066354	NM_020699.4(GATAD2B):c.343G>T (p.Glu115Ter)	GATAD2B (E115*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 3062069	NM_020699.4(GATAD2B):c.1190T>A (p.Val397Asp)	GATAD2B (V397D)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GUncertain significance
Select item 3027466	NM_020699.4(GATAD2B):c.420del (p.Arg141fs)	GATAD2B (R141fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 2695159	NM_020699.4(GATAD2B):c.646del (p.His216fs)	GATAD2B (H216fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2671938	NM_020699.4(GATAD2B):c.288C>T (p.Gly96=)	GATAD2B	Single nucleotide variant (synonymous variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GUncertain significance
Select item 2627766	NM_020699.4(GATAD2B):c.155del (p.Lys52fs)	GATAD2B (K52fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 2626894	NM_020699.4(GATAD2B):c.466-1G>C	GATAD2B	Single nucleotide variant (splice acceptor variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 2626873	NM_020699.4(GATAD2B):c.676C>T (p.Pro226Ser)	GATAD2B (P226S)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2432059	NM_020699.4(GATAD2B):c.1106C>T (p.Pro369Leu)	GATAD2B (P369L)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GUncertain significance
Select item 2432058	NM_020699.4(GATAD2B):c.587T>C (p.Val196Ala)	GATAD2B (V196A)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GUncertain significance
Select item 2432057	NM_020699.4(GATAD2B):c.71G>A (p.Arg24Gln)	GATAD2B (R24Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2429332	NM_020699.4(GATAD2B):c.117_127del (p.Met40fs)	GATAD2B (M40fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 2242008	NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)	GATAD2B (Q274fs)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2001158	NM_020699.4(GATAD2B):c.377T>C (p.Ile126Thr)	GATAD2B (I126T)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GUncertain significance
Select item 1961487	NM_020699.4(GATAD2B):c.349G>A (p.Gly117Arg)	GATAD2B (G117R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1909891	NM_020699.4(GATAD2B):c.900+5G>C	GATAD2B	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1723244	NM_020699.4(GATAD2B):c.899C>G (p.Pro300Arg)	GATAD2B (P300R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1723001	NM_020699.4(GATAD2B):c.625A>T (p.Ile209Phe)	GATAD2B (I209F)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GUncertain significance
Select item 1711854	NM_020699.4(GATAD2B):c.614del (p.Asn205fs)	GATAD2B (N205fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 1710186	NM_020699.4(GATAD2B):c.1390G>A (p.Ala464Thr)	GATAD2B (A464T)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GUncertain significance
Select item 1707715	NC_000001.10:g.(?_153753742)_(153791156_?)del	GATAD2B	Deletion	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 1701774	NM_020699.4(GATAD2B):c.1621G>T (p.Val541Leu)	GATAD2B (V541L)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GUncertain significance
Select item 1474413	NM_020699.4(GATAD2B):c.854T>C (p.Val285Ala)	GATAD2B (V285A)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GUncertain significance
Select item 1472927	NM_020699.4(GATAD2B):c.628G>T (p.Val210Phe)	GATAD2B (V210F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1413661	NM_020699.4(GATAD2B):c.1379G>A (p.Arg460Gln)	GATAD2B (R460Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1380756	NM_020699.4(GATAD2B):c.406_411del (p.Pro136_Arg137del)	GATAD2B	Deletion (inframe_deletion)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GUncertain significance
Select item 1354705	NM_020699.4(GATAD2B):c.751G>A (p.Ala251Thr)	GATAD2B (A251T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1346198	NM_020699.4(GATAD2B):c.193A>G (p.Thr65Ala)	GATAD2B (T65A)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GUncertain significance
Select item 1334018	NM_020699.4(GATAD2B):c.1280T>G (p.Phe427Cys)	GATAD2B (F427C)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GUncertain significance
Select item 1333459	NM_020699.4(GATAD2B):c.980_981del (p.Gly327fs)	GATAD2B (G327fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 1331505	NM_020699.4(GATAD2B):c.729G>A (p.Gln243=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1320103	NM_020699.4(GATAD2B):c.777_778del (p.Met259fs)	GATAD2B (M259fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 1285293	NM_020699.4(GATAD2B):c.729+15G>A	GATAD2B	Single nucleotide variant (intron variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GBenign
Select item 1259386	NM_020699.4(GATAD2B):c.1530+14T>C	GATAD2B	Single nucleotide variant (intron variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GBenign
Select item 1254028	NM_020699.4(GATAD2B):c.1661C>G (p.Ala554Gly)	GATAD2B (A554G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1195650	NM_020699.4(GATAD2B):c.1455C>T (p.Leu485=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1033947	NM_020699.4(GATAD2B):c.947T>A (p.Ile316Asn)	GATAD2B (I316N)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GUncertain significance
Select item 1029766	NM_020699.4(GATAD2B):c.230A>G (p.Glu77Gly)	GATAD2B (E77G)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GUncertain significance
Select item 1029765	NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln)	GATAD2B	Single nucleotide variant (stop lost)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 988718	NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)	GATAD2B (Q481*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 986838	NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter)	GATAD2B (Q480*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 985680	NM_020699.4(GATAD2B):c.520C>T (p.Arg174Ter)	GATAD2B (R174*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +2 more	GPathogenic
Select item 982995	NM_020699.4(GATAD2B):c.895C>T (p.Gln299Ter)	GATAD2B (Q299*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 982401	NM_020699.4(GATAD2B):c.598-1G>A	GATAD2B	Single nucleotide variant (splice acceptor variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 982260	NM_020699.4(GATAD2B):c.1258T>C (p.Cys420Arg)	GATAD2B (C420R)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 982259	NM_020699.4(GATAD2B):c.539T>C (p.Leu180Pro)	GATAD2B (L180P)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 981465	NM_020699.4(GATAD2B):c.365C>G (p.Ser122Ter)	GATAD2B (S122*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 977605	NM_020699.4(GATAD2B):c.1419+1G>A	GATAD2B	Single nucleotide variant (splice donor variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GPathogenic
Select item 931138	NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His)	GATAD2B (Q482H)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 931111	NM_020699.4(GATAD2B):c.766C>T (p.Leu256Phe)	GATAD2B (L256F)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GUncertain significance
Select item 931087	NM_020699.4(GATAD2B):c.597+2_597+3dup	GATAD2B	Duplication (splice donor variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GUncertain significance
Select item 916018	NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs)	GATAD2B (S400fs)	Microsatellite (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GPathogenic/Likely pathogenic
Select item 816673	NM_020699.4(GATAD2B):c.91C>T (p.Arg31Ter)	GATAD2B (R31*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 806219	NM_020699.4(GATAD2B):c.50G>C (p.Ser17Thr)	GATAD2B (S17T)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GUncertain significance
Select item 801548	NM_020699.4(GATAD2B):c.387del (p.Asp130fs)	GATAD2B (D130fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 801547	NM_020699.4(GATAD2B):c.574C>T (p.Gln192Ter)	GATAD2B (Q192*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 780260	NM_020699.4(GATAD2B):c.1038C>T (p.Ala346=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 773815	NM_020699.4(GATAD2B):c.729+10C>G	GATAD2B	Single nucleotide variant (intron variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GBenign/Likely benign
Select item 745188	NM_020699.4(GATAD2B):c.882C>T (p.Pro294=)	GATAD2B	Single nucleotide variant (synonymous variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GConflicting classifications of pathogenicity
Select item 738686	NM_020699.4(GATAD2B):c.240C>T (p.Asn80=)	GATAD2B	Single nucleotide variant (synonymous variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GBenign/Likely benign
Select item 731581	NM_020699.4(GATAD2B):c.415A>G (p.Ser139Gly)	GATAD2B (S139G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 729873	NM_020699.4(GATAD2B):c.1020C>T (p.Ser340=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 725557	NM_020699.4(GATAD2B):c.852T>C (p.Leu284=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 666293	NM_020699.4(GATAD2B):c.597+1G>A	GATAD2B	Single nucleotide variant (splice donor variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GLikely pathogenic
Select item 638585	NM_020699.4(GATAD2B):c.667_670del (p.Lys224fs)	GATAD2B (K224fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 638011	NM_020699.4(GATAD2B):c.185del (p.Glu62fs)	GATAD2B (E62fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 625770	GRCh37/hg19 1q21.3(chr1:153701504-154218584)	JTB, NUP210L +13 more	Copy number loss	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 620074	NM_020699.4(GATAD2B):c.1411C>T (p.Gln471Ter)	GATAD2B (Q471*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 584436	NM_020699.4(GATAD2B):c.1075C>T (p.Gln359Ter)	GATAD2B (Q359*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 560045	Single allele	CREB3L4, CRTC2 +26 more	Deletion	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 545450	NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter)	GATAD2B (Q513*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 448968	NM_020699.4(GATAD2B):c.1426G>T (p.Glu476Ter)	GATAD2B (E476*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 435290	NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter)	GATAD2B (R179*)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic
Select item 435289	NM_020699.4(GATAD2B):c.1271G>A (p.Arg424His)	GATAD2B (R424H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 435288	NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter)	GATAD2B (Q477*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 435287	NM_020699.4(GATAD2B):c.1459C>T (p.Pro487Ser)	GATAD2B (P487S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 432992	NM_020699.4(GATAD2B):c.709C>T (p.Gln237Ter)	GATAD2B (Q237*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 430625	NM_020699.4(GATAD2B):c.552_555del (p.Lys184fs)	GATAD2B (K184fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 430624	NM_020699.4(GATAD2B):c.76_80dup (p.Leu28fs)	GATAD2B (L28fs)	Duplication (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 419723	NM_020699.4(GATAD2B):c.973C>T (p.Gln325Ter)	GATAD2B (Q325*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 419376	NM_020699.4(GATAD2B):c.918del (p.Pro307fs)	GATAD2B (P307fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 381463	NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)	GATAD2B (R414Q)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GPathogenic/Likely pathogenic
Select item 379456	NM_020699.4(GATAD2B):c.658C>T (p.Gln220Ter)	GATAD2B (Q220*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GPathogenic
Select item 375617	NM_020699.4(GATAD2B):c.1154A>G (p.Asn385Ser)	GATAD2B (N385S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374387	NM_020699.4(GATAD2B):c.694C>T (p.Gln232Ter)	GATAD2B (Q232*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 373815	NM_020699.4(GATAD2B):c.432_435del (p.Glu144fs)	GATAD2B (E144fs)	Microsatellite (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GPathogenic
Select item 280408	NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter)	GATAD2B (R116*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +2 more	GPathogenic
Select item 265610	NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)	GATAD2B (R478*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GPathogenic/Likely pathogenic
Select item 211069	NM_020699.4(GATAD2B):c.981del (p.Thr328fs)	GATAD2B (T328fs)	Deletion (frameshift variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 211067	NM_020699.4(GATAD2B):c.1753A>G (p.Ile585Val)	GATAD2B (I585V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 211066	NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val)	GATAD2B (A490V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 211065	NM_020699.4(GATAD2B):c.1229C>G (p.Ala410Gly)	GATAD2B (A410G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 129136	NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala)	GATAD2B (P226A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 65423	NM_020699.4(GATAD2B):c.565_566del (p.Gln190fs)	GATAD2B (Q190fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 39666	GATAD2B, ASN195LYSfsTER30	GATAD2B	Variation	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic

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