ClinVar for MedGen (Select 1712636) - ClinVar

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Items: 95

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26379401.	NM_001321075.3(DLG4):c.782C>G (p.Thr261Arg) GRCh37: Chr17:7106227 GRCh38: Chr17:7202908	DLG4	T201R, T234R, T258R, T261R, T301R, T304R	Intellectual developmental disorder 62	Uncertain significance (Aug 9, 2023)	criteria provided, single submitter
Select item 25783832.	NM_001321075.3(DLG4):c.150+4_150+5del GRCh37: Chr17:7107513-7107514 GRCh38: Chr17:7204194-7204195	DLG4		Intellectual developmental disorder 62	not provided	no assertion provided
Select item 25739933.	NM_001321075.3(DLG4):c.1176T>G (p.Tyr392Ter) GRCh37: Chr17:7099802 GRCh38: Chr17:7196483	DLG4, LOC126862479	Y332, Y365, Y389, Y392, Y432, Y435	Intellectual developmental disorder 62	Pathogenic	criteria provided, single submitter
Select item 25730154.	NM_001321075.3(DLG4):c.1696dup (p.Thr566fs) GRCh37: Chr17:7096433-7096434 GRCh38: Chr17:7193114-7193115	DLG4	T506fs, T539fs, T563fs, T566fs, T606fs, T609fs	Intellectual developmental disorder 62	Pathogenic (Feb 15, 2023)	criteria provided, single submitter
Select item 24981025.	NM_001321075.3(DLG4):c.2082dup (p.Asp695Ter) GRCh37: Chr17:7094119-7094120 GRCh38: Chr17:7190800-7190801	DLG4	D635, D668, D692, D695, D735, D738	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24981016.	NM_001321075.3(DLG4):c.1976+235C>T GRCh37: Chr17:7094977 GRCh38: Chr17:7191658	DLG4		Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24981007.	NM_001321075.3(DLG4):c.1829G>T (p.Gly610Val) GRCh37: Chr17:7096301 GRCh38: Chr17:7192982	DLG4	G550V, G583V, G607V, G610V, G650V, G653V	Intellectual developmental disorder 62	Uncertain significance (Feb 28, 2023)	criteria provided, single submitter
Select item 24980998.	NM_001321075.3(DLG4):c.1756C>T (p.Arg586Trp) GRCh37: Chr17:7096374 GRCh38: Chr17:7193055	DLG4	R526W, R559W, R583W, R586W, R626W, R629W	DLG4-related condition, Intellectual developmental disorder 62	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24980989.	NM_001321075.3(DLG4):c.1693C>T (p.His565Tyr) GRCh37: Chr17:7096802 GRCh38: Chr17:7193483	DLG4	H505Y, H538Y, H562Y, H565Y, H605Y, H608Y	not provided, Intellectual developmental disorder 62	Conflicting interpretations of pathogenicity (Sep 6, 2023)	criteria provided, conflicting interpretations
Select item 249809710.	NM_001321075.3(DLG4):c.1381_1384del (p.His461fs) GRCh37: Chr17:7097732-7097735 GRCh38: Chr17:7194413-7194416	DLG4	H401fs, H434fs, H458fs, H461fs, H501fs, H504fs	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 249809611.	NM_001321075.3(DLG4):c.788-1669_1302-397del GRCh37: Chr17:7098211-7102040 GRCh38: Chr17:7194892-7198721	DLG4, LOC126862479		Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 249809512.	NM_001321075.3(DLG4):c.1295_1301+10del GRCh37: Chr17:7099529-7099545 GRCh38: Chr17:7196210-7196226	DLG4, LOC126862479		Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 249809413.	NM_001321075.3(DLG4):c.1000G>A (p.Glu334Lys) GRCh37: Chr17:7100159 GRCh38: Chr17:7196840	DLG4, LOC126862479	E274K, E307K, E331K, E334K, E374K, E377K	Intellectual developmental disorder 62	Uncertain significance (Feb 28, 2023)	criteria provided, single submitter
Select item 249809314.	NM_001321075.3(DLG4):c.974dup (p.Asn326fs) GRCh37: Chr17:7100184-7100185 GRCh38: Chr17:7196865-7196866	DLG4, LOC126862479	N266fs, N299fs, N323fs, N326fs, N366fs, N369fs	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 249809215.	NM_001321075.3(DLG4):c.937C>T (p.Arg313Ter) GRCh37: Chr17:7100222 GRCh38: Chr17:7196903	DLG4, LOC126862479	R253, R286, R310, R313, R353, R356	Intellectual developmental disorder 62	Pathogenic (Sep 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 249809116.	NM_001321075.3(DLG4):c.932del (p.Pro311fs) GRCh37: Chr17:7100227 GRCh38: Chr17:7196908	LOC126862479, DLG4	P251fs, P284fs, P308fs, P311fs, P351fs, P354fs	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 249809017.	NM_001321075.3(DLG4):c.863C>T (p.Pro288Leu) GRCh37: Chr17:7100296 GRCh38: Chr17:7196977	DLG4, LOC126862479	P228L, P261L, P285L, P288L, P328L, P331L	Intellectual developmental disorder 62	Uncertain significance (Feb 28, 2023)	criteria provided, single submitter
Select item 249808918.	NM_001321075.3(DLG4):c.796C>T (p.Gln266Ter) GRCh37: Chr17:7100363 GRCh38: Chr17:7197044	LOC126862479, DLG4	Q206, Q239, Q263, Q266, Q306, Q309	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 249808819.	NM_001321075.3(DLG4):c.787+4A>G GRCh37: Chr17:7106218 GRCh38: Chr17:7202899	DLG4		Intellectual developmental disorder 62	Uncertain significance (Feb 28, 2023)	criteria provided, single submitter
Select item 249808720.	NM_001321075.3(DLG4):c.593G>T (p.Gly198Val) GRCh37: Chr17:7106561 GRCh38: Chr17:7203242	DLG4	G138V, G171V, G195V, G198V, G238V, G241V	Intellectual developmental disorder 62	Uncertain significance (Feb 28, 2023)	criteria provided, single submitter
Select item 249808621.	NM_001321075.3(DLG4):c.143dup (p.Gly49fs) GRCh37: Chr17:7107524-7107525 GRCh38: Chr17:7204205-7204206	DLG4	G25fs, G49fs, G92fs	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 249808522.	NM_001321075.3(DLG4):c.506-2A>G GRCh37: Chr17:7106650 GRCh38: Chr17:7203331	DLG4		Intellectual developmental disorder 62	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 249808423.	NM_001321075.3(DLG4):c.505+1G>T GRCh37: Chr17:7106742 GRCh38: Chr17:7203423	DLG4		Intellectual developmental disorder 62	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 249808324.	NM_001321075.3(DLG4):c.398C>A (p.Ala133Glu) GRCh37: Chr17:7106850 GRCh38: Chr17:7203531	DLG4	A106E, A130E, A133E, A173E, A176E, A73E	Intellectual developmental disorder 62	Uncertain significance (Feb 28, 2023)	criteria provided, single submitter
Select item 249808225.	NM_001321075.3(DLG4):c.94C>T (p.Gln32Ter) GRCh37: Chr17:7111495 GRCh38: Chr17:7208176	DLG4	Q32, Q75	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 243184826.	NM_001365.5(DLG4):c.159+13G>A GRCh37: Chr17:7121547 GRCh38: Chr17:7218228	ACADVL, DLG4		Intellectual developmental disorder 62	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 242872427.	NM_001321075.3(DLG4):c.30+18G>A GRCh37: Chr17:7120419 GRCh38: Chr17:7217100	DLG4		Intellectual developmental disorder 62	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 189538828.	NM_001365.5(DLG4):c.2T>G (p.Met1Arg) GRCh37: Chr17:7122167 GRCh38: Chr17:7218848	ACADVL, DLG4	M1R	Intellectual developmental disorder 62	Uncertain significance	criteria provided, single submitter
Select item 180589229.	NM_001321075.3(DLG4):c.1690C>T (p.Pro564Ser) GRCh37: Chr17:7096805 GRCh38: Chr17:7193486	DLG4	P504S, P537S, P561S, P564S, P604S, P607S	Intellectual developmental disorder 62	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 180576030.	NM_001321075.3(DLG4):c.352C>G (p.Leu118Val) GRCh37: Chr17:7106896 GRCh38: Chr17:7203577	DLG4	L115V, L118V, L158V, L161V, L58V, L91V	Intellectual developmental disorder 62	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 180526331.	NM_001321075.3(DLG4):c.1512dup (p.Lys505fs) GRCh37: Chr17:7097285-7097286 GRCh38: Chr17:7193966-7193967	DLG4	K445fs, K478fs, K502fs, K505fs, K545fs, K548fs	Intellectual developmental disorder 62	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 180521032.	NM_001321075.3(DLG4):c.10_13del (p.Leu4fs) GRCh37: Chr17:7120454-7120457 GRCh38: Chr17:7217135-7217138	ACADVL, DLG4	L4fs	Intellectual developmental disorder 62	Likely pathogenic (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 180396033.	NM_001321075.3(DLG4):c.981_982dup (p.Val328fs) GRCh37: Chr17:7100176-7100177 GRCh38: Chr17:7196857-7196858	DLG4, LOC126862479	V268fs, V301fs, V325fs, V328fs, V368fs, V371fs	Intellectual developmental disorder 62	Pathogenic (Dec 17, 2020)	criteria provided, single submitter
Select item 172328334.	NM_001321075.3(DLG4):c.773del (p.Pro258fs) GRCh37: Chr17:7106236 GRCh38: Chr17:7202917	DLG4	P198fs, P231fs, P255fs, P258fs, P298fs, P301fs	Intellectual developmental disorder 62	Likely pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 171251335.	NM_001321075.3(DLG4):c.1490del (p.Arg497fs) GRCh37: Chr17:7097308 GRCh38: Chr17:7193989	DLG4	R437fs, R470fs, R494fs, R497fs, R537fs, R540fs	Intellectual developmental disorder 62	Likely pathogenic (Oct 5, 2022)	no assertion criteria provided
Select item 171108636.	NM_001321075.3(DLG4):c.643-1G>T GRCh37: Chr17:7106367 GRCh38: Chr17:7203048	DLG4		Intellectual developmental disorder 62	Likely pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 170927637.	NM_001321075.3(DLG4):c.1592-2A>C GRCh37: Chr17:7096905 GRCh38: Chr17:7193586	DLG4		Intellectual developmental disorder 62	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 170023638.	NM_001321075.3(DLG4):c.1607C>T (p.Pro536Leu) GRCh37: Chr17:7096888 GRCh38: Chr17:7193569	DLG4	P476L, P509L, P533L, P536L, P576L, P579L	Intellectual developmental disorder 62	Likely pathogenic	no assertion criteria provided
Select item 170017439.	NM_001321075.3(DLG4):c.1697del (p.Thr566fs) GRCh37: Chr17:7096433 GRCh38: Chr17:7193114	DLG4	T506fs, T539fs, T563fs, T566fs, T606fs, T609fs	Neurodevelopmental delay, Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169929140.	NM_001321075.3(DLG4):c.410_411del (p.Leu137fs) GRCh37: Chr17:7106837-7106838 GRCh38: Chr17:7203518-7203519	DLG4	L110fs, L134fs, L137fs, L177fs, L180fs, L77fs	Intellectual developmental disorder 62	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 169669141.	NM_001321075.3(DLG4):c.740G>A (p.Ser247Asn) GRCh37: Chr17:7106269 GRCh38: Chr17:7202950	DLG4	S187N, S220N, S244N, S247N, S287N, S290N	Intellectual developmental disorder 62	Uncertain significance (Aug 6, 2021)	criteria provided, single submitter
Select item 167970942.	NM_001321075.3(DLG4):c.96+6C>A GRCh37: Chr17:7111487 GRCh38: Chr17:7208168	DLG4		Intellectual developmental disorder 62	Uncertain significance (May 27, 2021)	criteria provided, single submitter
Select item 132990743.	NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692fs) GRCh37: Chr17:7094124-7094128 GRCh38: Chr17:7190805-7190809	DLG4	V632fs, V665fs, V689fs, V692fs, V732fs, V735fs	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132990644.	NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter) GRCh37: Chr17:7095310 GRCh38: Chr17:7191991	DLG4	C566, C599, C623, C626, C666, C669	Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132990545.	NM_001321075.3(DLG4):c.1855del (p.Val619fs) GRCh37: Chr17:7096275 GRCh38: Chr17:7192956	DLG4	V559fs, V592fs, V616fs, V619fs, V659fs, V662fs	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132990346.	NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile) GRCh37: Chr17:7096298 GRCh38: Chr17:7192979	DLG4	T551I, T584I, T608I, T611I, T651I, T654I	Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132990247.	NM_001321075.3(DLG4):c.1757G>A (p.Arg586Gln) GRCh37: Chr17:7096373 GRCh38: Chr17:7193054	DLG4	R526Q, R559Q, R583Q, R586Q, R626Q, R629Q	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132990148.	NM_001321075.3(DLG4):c.1693+1G>A GRCh37: Chr17:7096801 GRCh38: Chr17:7193482	DLG4		not provided, Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132990049.	NM_001321075.3(DLG4):c.1672A>T (p.Lys558Ter) GRCh37: Chr17:7096823 GRCh38: Chr17:7193504	DLG4	K498, K531, K555, K558, K598, K601	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132989950.	NM_001321075.3(DLG4):c.1592-1G>A GRCh37: Chr17:7096904 GRCh38: Chr17:7193585	DLG4		Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Apr 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132989851.	NM_001321075.3(DLG4):c.1496G>A (p.Trp499Ter) GRCh37: Chr17:7097302 GRCh38: Chr17:7193983	DLG4	W439, W472, W496, W499, W539, W542	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132989752.	NM_001321075.3(DLG4):c.1497G>A (p.Trp499Ter) GRCh37: Chr17:7097301 GRCh38: Chr17:7193982	DLG4	W439, W472, W496, W499, W539, W542	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132989553.	NM_001321075.3(DLG4):c.1478+4_1478+19del GRCh37: Chr17:7097619-7097634 GRCh38: Chr17:7194300-7194315	DLG4		Intellectual developmental disorder 62	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 132989454.	NM_001321075.3(DLG4):c.1478+2T>C GRCh37: Chr17:7097636 GRCh38: Chr17:7194317	DLG4		Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132989355.	NM_001321075.3(DLG4):c.1458del (p.Phe487fs) GRCh37: Chr17:7097658 GRCh38: Chr17:7194339	DLG4	F427fs, F460fs, F484fs, F487fs, F527fs, F530fs	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132989256.	NM_001321075.3(DLG4):c.1195C>T (p.Arg399Ter) GRCh37: Chr17:7099645 GRCh38: Chr17:7196326	DLG4, LOC126862479	R339, R372, R396, R399, R439, R442	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132989157.	NM_001321075.3(DLG4):c.1084-1G>T GRCh37: Chr17:7099895 GRCh38: Chr17:7196576	DLG4, LOC126862479		Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132989058.	NM_001321075.3(DLG4):c.995A>G (p.Asp332Gly) GRCh37: Chr17:7100164 GRCh38: Chr17:7196845	DLG4, LOC126862479	D272G, D305G, D329G, D332G, D372G, D375G	Intellectual developmental disorder 62	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132988959.	NM_001321075.3(DLG4):c.792T>A (p.Tyr264Ter) GRCh37: Chr17:7100367 GRCh38: Chr17:7197048	DLG4, LOC126862479	Y204, Y237, Y261, Y264, Y304, Y307	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132988860.	NM_001321075.3(DLG4):c.787+2T>C GRCh37: Chr17:7106220 GRCh38: Chr17:7202901	DLG4		Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132988761.	NM_001321075.3(DLG4):c.592G>A (p.Gly198Ser) GRCh37: Chr17:7106562 GRCh38: Chr17:7203243	DLG4	G138S, G171S, G195S, G198S, G238S, G241S	Intellectual developmental disorder 62	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132988662.	NM_001321075.3(DLG4):c.557A>T (p.Asp186Val) GRCh37: Chr17:7106597 GRCh38: Chr17:7203278	DLG4	D126V, D159V, D183V, D186V, D226V, D229V	Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132988463.	NM_001321075.3(DLG4):c.478G>T (p.Glu160Ter) GRCh37: Chr17:7106770 GRCh38: Chr17:7203451	DLG4	E100, E133, E157, E160, E200, E203	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132988364.	NM_001321075.3(DLG4):c.339del (p.Asn114fs) GRCh37: Chr17:7106909 GRCh38: Chr17:7203590	DLG4	N111fs, N114fs, N154fs, N157fs, N54fs, N87fs	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132988265.	NM_001321075.3(DLG4):c.319C>T (p.Gln107Ter) GRCh37: Chr17:7107027 GRCh38: Chr17:7203708	DLG4	Q104, Q107, Q147, Q150, Q47, Q80	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132988166.	NM_001321075.3(DLG4):c.243dup (p.Gly82fs) GRCh37: Chr17:7107102-7107103 GRCh38: Chr17:7203783-7203784	DLG4	G122fs, G125fs, G22fs, G55fs, G79fs, G82fs	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132988067.	NM_001321075.3(DLG4):c.218C>G (p.Ser73Ter) GRCh37: Chr17:7107128 GRCh38: Chr17:7203809	DLG4	S113, S116, S13, S46, S70, S73	Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132987968.	NM_001321075.3(DLG4):c.211-2A>G GRCh37: Chr17:7107137 GRCh38: Chr17:7203818	DLG4		Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132987869.	NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter) GRCh37: Chr17:7107344 GRCh38: Chr17:7204025	DLG4	E105, E108, E38, E5, E62, E65	Inborn genetic diseases, Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132582870.	NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter) GRCh37: Chr17:7096281 GRCh38: Chr17:7192962	DLG4	R557, R590, R614, R617, R657, R660	Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132423071.	NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter) GRCh37: Chr17:7097312 GRCh38: Chr17:7193993	DLG4	R436, R469, R493, R496, R536, R539	not provided, Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Oct 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132009372.	NM_001321075.3(DLG4):c.1479-2A>G GRCh37: Chr17:7097321 GRCh38: Chr17:7194002	DLG4		Intellectual developmental disorder 62	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 130865373.	NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) GRCh37: Chr17:7106624 GRCh38: Chr17:7203305	DLG4	G117V, G150V, G174V, G177V, G217V, G220V	Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 130586574.	NM_001321075.3(DLG4):c.642G>A (p.Ala214=) GRCh37: Chr17:7106512 GRCh38: Chr17:7203193	DLG4		not provided, Intellectual developmental disorder 62	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 130062375.	NM_001321075.3(DLG4):c.1072C>T (p.Gln358Ter) GRCh37: Chr17:7100087 GRCh38: Chr17:7196768	DLG4, LOC126862479	Q298, Q331, Q355, Q358, Q398, Q401	Intellectual developmental disorder 62, not provided	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 128558176.	NM_001321075.3(DLG4):c.1866+2T>C GRCh37: Chr17:7096262 GRCh38: Chr17:7192943	DLG4		Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 125550677.	NM_001321075.3(DLG4):c.1167C>T (p.Ile389=) GRCh37: Chr17:7099811 GRCh38: Chr17:7196492	DLG4, LOC126862479		Intellectual developmental disorder 62, not provided	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116403978.	NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) GRCh37: Chr17:7100076 GRCh38: Chr17:7196757	DLG4, LOC126862479		Intellectual developmental disorder 62, not provided	Pathogenic/Likely pathogenic (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99697479.	NM_001321075.3(DLG4):c.1711C>T (p.Arg571Trp) GRCh37: Chr17:7096419 GRCh38: Chr17:7193100	DLG4	R511W, R544W, R568W, R571W, R611W, R614W	Intellectual developmental disorder 62	Uncertain significance (Jul 10, 2020)	criteria provided, single submitter
Select item 98874180.	NM_001321075.3(DLG4):c.210+2del GRCh37: Chr17:7107325 GRCh38: Chr17:7204006	DLG4		Intellectual developmental disorder 62	Likely pathogenic (Jun 9, 2020)	no assertion criteria provided
Select item 98719381.	NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter) GRCh37: Chr17:7097681-7097682 GRCh38: Chr17:7194362-7194363	DLG4	D419, D452, D476, D479, D519, D522	not provided, Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98526982.	NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter) GRCh37: Chr17:7097031 GRCh38: Chr17:7193712	DLG4	R456, R489, R513, R516, R556, R559	Inborn genetic diseases, Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91644083.	NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter) GRCh37: Chr17:7099639 GRCh38: Chr17:7196320	DLG4, LOC126862479	E398, E374, E401, E441, E444, E341	not provided, Intellectual developmental disorder 62	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87093884.	NM_001321075.3(DLG4):c.990C>T (p.Gly330=) GRCh37: Chr17:7100169 GRCh38: Chr17:7196850	DLG4, LOC126862479		not provided, Intellectual developmental disorder 62	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 85276885.	NM_001321075.3(DLG4):c.210+1G>T GRCh37: Chr17:7107326 GRCh38: Chr17:7204007	DLG4		Intellectual developmental disorder 62, not provided	Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 81727486.	NM_001321075.3(DLG4):c.326del (p.Gly109fs) GRCh37: Chr17:7107020 GRCh38: Chr17:7203701	DLG4	G149fs, G106fs, G152fs, G109fs, G49fs, G82fs	Intellectual developmental disorder 62, not provided	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 81706587.	NM_001321075.3(DLG4):c.525dup (p.Gly176fs) GRCh37: Chr17:7106628-7106629 GRCh38: Chr17:7203309-7203310	DLG4	G173fs, G116fs, G176fs, G149fs, G216fs, G219fs	Intellectual developmental disorder 62, not provided	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 81388188.	NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter) GRCh37: Chr17:7100234 GRCh38: Chr17:7196915	DLG4, LOC126862479	R352, R349, R282, R309, R249, R306	Intellectual developmental disorder 62, not provided, DLG4-related condition	Pathogenic/Likely pathogenic (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 81388089.	NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter) GRCh37: Chr17:7099876 GRCh38: Chr17:7196557	LOC126862479, DLG4	R411, R408, R308, R365, R341, R368	Intellectual developmental disorder 62, not provided	Pathogenic (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 68972090.	NM_001321075.3(DLG4):c.1543+2T>C GRCh37: Chr17:7097161 GRCh38: Chr17:7193842	DLG4		Intellectual developmental disorder 62, Marfanoid habitus and intellectual disability	Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 68971891.	NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs) GRCh37: Chr17:7100134-7100141 GRCh38: Chr17:7196815-7196822	DLG4, LOC126862479	F340fs, F380fs, F383fs, F280fs, F313fs, F337fs	Marfanoid habitus and intellectual disability, Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 68971792.	NM_001321075.3(DLG4):c.1714del (p.Glu572fs) GRCh37: Chr17:7096416 GRCh38: Chr17:7193097	DLG4	E512fs, E572fs, E612fs, E569fs, E615fs, E545fs	Marfanoid habitus and intellectual disability, Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 62010093.	NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter) GRCh37: Chr17:7097309 GRCh38: Chr17:7193990	DLG4	R540, R494, R497, R437, R537, R470	not provided, Intellectual developmental disorder 62	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42228994.	NM_001321075.3(DLG4):c.605del (p.Lys202fs) GRCh37: Chr17:7106549 GRCh38: Chr17:7203230	DLG4	K199fs, K202fs, K245fs, K142fs, K175fs, K242fs	Intellectual developmental disorder 62, not provided	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22480795.	NM_001321075.3(DLG4):c.148dup (p.Tyr50fs) GRCh37: Chr17:7107519-7107520 GRCh38: Chr17:7204200-7204201	DLG4	Y26fs, Y50fs, Y93fs	Intellectual developmental disorder 62, Cerebral visual impairment and intellectual disability	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 95