"Tumer Group, Copenhagen University Hospital, Rigshospitalet"[submitte - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498102	NM_001321075.3(DLG4):c.2082dup (p.Asp695Ter)	DLG4 (D635* +5 more)	Duplication (nonsense +2 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1329907	NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692fs)	DLG4 (V632fs +5 more)	Indel (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498101	NM_001321075.3(DLG4):c.1976+235C>T	DLG4	Single nucleotide variant (intron variant)	Intellectual developmental disorder 62	GPathogenic
Select item 1329906	NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter)	DLG4 (C566* +5 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder 62	GPathogenic/Likely pathogenic
Select item 1285581	NM_001321075.3(DLG4):c.1866+2T>C	DLG4	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder 62	GPathogenic/Likely pathogenic
Select item 1329905	NM_001321075.3(DLG4):c.1855del (p.Val619fs)	DLG4 (V559fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1325828	NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter)	DLG4 (R557* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1329903	NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile)	DLG4 (T551I +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GPathogenic/Likely pathogenic
Select item 2498100	NM_001321075.3(DLG4):c.1829G>T (p.Gly610Val)	DLG4 (G550V +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 1329902	NM_001321075.3(DLG4):c.1757G>A (p.Arg586Gln)	DLG4 (R526Q +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498099	NM_001321075.3(DLG4):c.1756C>T (p.Arg586Trp)	DLG4 (R526W +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 689717	NM_001321075.3(DLG4):c.1714del (p.Glu572fs)	DLG4 (E512fs +5 more)	Deletion (frameshift variant +1 more)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 1700174	NM_001321075.3(DLG4):c.1697del (p.Thr566fs)	DLG4 (T506fs +5 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 1329901	NM_001321075.3(DLG4):c.1693+1G>A	DLG4	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder 62 +1 more	GPathogenic/Likely pathogenic
Select item 2498098	NM_001321075.3(DLG4):c.1693C>T (p.His565Tyr)	DLG4 (H505Y +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62 +1 more	GConflicting classifications of pathogenicity
Select item 1329900	NM_001321075.3(DLG4):c.1672A>T (p.Lys558Ter)	DLG4 (K498* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1329899	NM_001321075.3(DLG4):c.1592-1G>A	DLG4	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder 62	GPathogenic/Likely pathogenic
Select item 985269	NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter)	DLG4 (R456* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62 +2 more	GPathogenic
Select item 689720	NM_001321075.3(DLG4):c.1543+2T>C	DLG4	Single nucleotide variant (splice donor variant)	Marfanoid habitus and intellectual disability +1 more	GLikely pathogenic
Select item 1329897	NM_001321075.3(DLG4):c.1497G>A (p.Trp499Ter)	DLG4 (W439* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1329898	NM_001321075.3(DLG4):c.1496G>A (p.Trp499Ter)	DLG4 (W439* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 620100	NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter)	DLG4 (R540* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324230	NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter)	DLG4 (R436* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62 +1 more	GPathogenic/Likely pathogenic
Select item 1329895	NM_001321075.3(DLG4):c.1478+4_1478+19del	DLG4	Deletion (splice donor variant)	Intellectual developmental disorder 62	GConflicting classifications of pathogenicity
Select item 1329894	NM_001321075.3(DLG4):c.1478+2T>C	DLG4	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder 62	GPathogenic/Likely pathogenic
Select item 1329893	NM_001321075.3(DLG4):c.1458del (p.Phe487fs)	DLG4 (F427fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 987193	NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter)	DLG4 (D419* +5 more)	Duplication (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2498097	NM_001321075.3(DLG4):c.1381_1384del (p.His461fs)	DLG4 (H401fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498096	NM_001321075.3(DLG4):c.788-1669_1302-397del	DLG4, LOC126862479	Deletion (splice acceptor variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498095	NM_001321075.3(DLG4):c.1295_1301+10del	DLG4, LOC126862479	Deletion (splice donor variant)	Intellectual developmental disorder 62	GPathogenic
Select item 916440	NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter)	DLG4, LOC126862479 (E398* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62 +1 more	GPathogenic
Select item 1329892	NM_001321075.3(DLG4):c.1195C>T (p.Arg399Ter)	DLG4, LOC126862479 (R339* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 813880	NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter)	LOC126862479, DLG4 (R411* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62 +1 more	GPathogenic
Select item 1329891	NM_001321075.3(DLG4):c.1084-1G>T	DLG4, LOC126862479	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder 62	GPathogenic/Likely pathogenic
Select item 1164039	NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)	DLG4, LOC126862479	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1300623	NM_001321075.3(DLG4):c.1072C>T (p.Gln358Ter)	DLG4, LOC126862479 (Q298* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62 +1 more	GPathogenic
Select item 689718	NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs)	DLG4, LOC126862479 (F340fs +5 more)	Deletion (frameshift variant +1 more)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 2498094	NM_001321075.3(DLG4):c.1000G>A (p.Glu334Lys)	DLG4, LOC126862479 (E274K +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 1329890	NM_001321075.3(DLG4):c.995A>G (p.Asp332Gly)	DLG4, LOC126862479 (D272G +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 870938	NM_001321075.3(DLG4):c.990C>T (p.Gly330=)	DLG4, LOC126862479	Single nucleotide variant (synonymous variant +1 more)	Intellectual developmental disorder 62 +1 more	GConflicting classifications of pathogenicity
Select item 2498093	NM_001321075.3(DLG4):c.974dup (p.Asn326fs)	DLG4, LOC126862479 (N266fs +5 more)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498092	NM_001321075.3(DLG4):c.937C>T (p.Arg313Ter)	DLG4, LOC126862479 (R253* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 2498091	NM_001321075.3(DLG4):c.932del (p.Pro311fs)	LOC126862479, DLG4 (P251fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 813881	NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter)	DLG4, LOC126862479 (R352* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62 +2 more	GPathogenic/Likely pathogenic
Select item 2498090	NM_001321075.3(DLG4):c.863C>T (p.Pro288Leu)	DLG4, LOC126862479 (P228L +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 2498089	NM_001321075.3(DLG4):c.796C>T (p.Gln266Ter)	LOC126862479, DLG4 (Q206* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1329889	NM_001321075.3(DLG4):c.792T>A (p.Tyr264Ter)	DLG4, LOC126862479 (Y204* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498088	NM_001321075.3(DLG4):c.787+4A>G	DLG4	Single nucleotide variant (intron variant)	Intellectual developmental disorder 62	GUncertain significance
Select item 1329888	NM_001321075.3(DLG4):c.787+2T>C	DLG4	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder 62	GPathogenic/Likely pathogenic
Select item 1305865	NM_001321075.3(DLG4):c.642G>A (p.Ala214=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 422289	NM_001321075.3(DLG4):c.605del (p.Lys202fs)	DLG4 (K199fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62 +1 more	GPathogenic
Select item 2498087	NM_001321075.3(DLG4):c.593G>T (p.Gly198Val)	DLG4 (G138V +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 1329887	NM_001321075.3(DLG4):c.592G>A (p.Gly198Ser)	DLG4 (G138S +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 1329886	NM_001321075.3(DLG4):c.557A>T (p.Asp186Val)	DLG4 (D126V +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GPathogenic/Likely pathogenic
Select item 1308653	NM_001321075.3(DLG4):c.530G>T (p.Gly177Val)	DLG4 (G117V +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GPathogenic/Likely pathogenic
Select item 817065	NM_001321075.3(DLG4):c.525dup (p.Gly176fs)	DLG4 (G173fs +5 more)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder 62 +1 more	GPathogenic
Select item 2498085	NM_001321075.3(DLG4):c.506-2A>G	DLG4	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 2498084	NM_001321075.3(DLG4):c.505+1G>T	DLG4	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 1329884	NM_001321075.3(DLG4):c.478G>T (p.Glu160Ter)	DLG4 (E100* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498083	NM_001321075.3(DLG4):c.398C>A (p.Ala133Glu)	DLG4 (A106E +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 1329883	NM_001321075.3(DLG4):c.339del (p.Asn114fs)	DLG4 (N111fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 817274	NM_001321075.3(DLG4):c.326del (p.Gly109fs)	DLG4 (G149fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62 +1 more	GPathogenic
Select item 1329882	NM_001321075.3(DLG4):c.319C>T (p.Gln107Ter)	DLG4 (Q104* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1329881	NM_001321075.3(DLG4):c.243dup (p.Gly82fs)	DLG4 (G122fs +5 more)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1329880	NM_001321075.3(DLG4):c.218C>G (p.Ser73Ter)	DLG4 (S113* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1329879	NM_001321075.3(DLG4):c.211-2A>G	DLG4	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder 62	GPathogenic/Likely pathogenic
Select item 852768	NM_001321075.3(DLG4):c.210+1G>T	DLG4	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1329878	NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter)	DLG4 (E105* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 224807	NM_001321075.3(DLG4):c.148dup (p.Tyr50fs)	DLG4 (Y26fs +2 more)	Duplication (frameshift variant +2 more)	Intellectual developmental disorder 62 +1 more	GPathogenic/Likely pathogenic
Select item 2498086	NM_001321075.3(DLG4):c.143dup (p.Gly49fs)	DLG4 (G25fs +2 more)	Duplication (frameshift variant +2 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498082	NM_001321075.3(DLG4):c.94C>T (p.Gln32Ter)	DLG4 (Q32* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic

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Items: 71