DLG4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 150350	GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3	ACADVL, ALOX12 +53 more	Copy number gain	See cases	GUncertain significance
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 774928	NM_001321075.3(DLG4):c.2152G>A (p.Val718Ile)	DLG4 (V691I +5 more)	Single nucleotide variant (missense variant +1 more)	DLG4-related disorder +1 more	GBenign/Likely benign
Select item 750350	NM_001321075.3(DLG4):c.2139C>G (p.Gly713=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2326285	NM_001321075.3(DLG4):c.2071A>G (p.Ile691Val)	DLG4 (I691V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061081	NM_001321075.3(DLG4):c.2068+8C>G	DLG4	Single nucleotide variant (intron variant)	DLG4-related disorder	GLikely benign
Select item 3041247	NM_001321075.3(DLG4):c.2058G>A (p.Glu686=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	DLG4-related disorder	GBenign
Select item 2576717	NM_001321075.3(DLG4):c.2000A>G (p.Glu667Gly)	DLG4 (E607G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311939	NM_001321075.3(DLG4):c.1996A>C (p.Thr666Pro)	DLG4 (T606P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712640	NM_001321075.3(DLG4):c.1991G>A (p.Arg664Gln)	DLG4 (R604Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1070455	NM_001321075.3(DLG4):c.1977-2A>G	DLG4	Single nucleotide variant (splice acceptor variant)	not provided	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 737883	NM_001321075.3(DLG4):c.1974G>A (p.Val658=)	DLG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1199223	NM_001321075.3(DLG4):c.1961C>T (p.Ser654Phe)	DLG4 (S594F +5 more)	Single nucleotide variant (missense variant)	DLG4-related synaptopathy	GUncertain significance
Select item 1698287	NM_001321075.3(DLG4):c.1958G>A (p.Arg653His)	DLG4 (R593H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236563	NM_001321075.3(DLG4):c.1947del (p.Phe649fs)	DLG4 (F589fs +5 more)	Deletion (frameshift variant)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 1331318	NM_001321075.3(DLG4):c.1907G>T (p.Arg636Leu)	DLG4 (R576L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745399	NM_001321075.3(DLG4):c.1893G>A (p.Ser631=)	DLG4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 2663407	NM_001321075.3(DLG4):c.1795A>G (p.Ile599Val)	DLG4 (I539V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 +1 more	GUncertain significance
Select item 3051099	NM_001321075.3(DLG4):c.1751C>T (p.Ser584Leu)	DLG4 (S524L +5 more)	Single nucleotide variant (missense variant +1 more)	DLG4-related disorder	GLikely benign
Select item 779280	NM_001321075.3(DLG4):c.1740C>T (p.Tyr580=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 996974	NM_001321075.3(DLG4):c.1711C>T (p.Arg571Trp)	DLG4 (R511W +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 2573015	NM_001321075.3(DLG4):c.1696dup (p.Thr566fs)	DLG4 (T506fs +5 more)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1700174	NM_001321075.3(DLG4):c.1697del (p.Thr566fs)	DLG4 (T506fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62 +1 more	GPathogenic
Select item 2682273	NM_001321075.3(DLG4):c.1694-20G>A	DLG4	Single nucleotide variant (intron variant)	not specified	GLikely benign
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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1805892	NM_001321075.3(DLG4):c.1690C>T (p.Pro564Ser)	DLG4 (P504S +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
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 1712600	NM_001321075.3(DLG4):c.1646A>T (p.Asp549Val)	DLG4 (D489V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2570969	NM_001321075.3(DLG4):c.1644C>T (p.Asn548=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2570970	NM_001321075.3(DLG4):c.1620T>G (p.Leu540=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1700236	NM_001321075.3(DLG4):c.1607C>T (p.Pro536Leu)	DLG4 (P476L +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 2477231	NM_001321075.3(DLG4):c.1598A>G (p.Tyr533Cys)	DLG4 (Y473C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1709276	NM_001321075.3(DLG4):c.1592-2A>C	DLG4	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder 62	GUncertain significance
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 +1 more	GPathogenic
Select item 689720	NM_001321075.3(DLG4):c.1543+2T>C	DLG4	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder 62 +1 more	GLikely pathogenic
Select item 724789	NM_001321075.3(DLG4):c.1539G>A (p.Ser513=)	DLG4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2672084	NM_001321075.3(DLG4):c.1516-1G>C	DLG4	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 3035072	NM_001321075.3(DLG4):c.1516-8C>T	DLG4	Single nucleotide variant (intron variant)	DLG4-related disorder	GLikely benign
Select item 1805263	NM_001321075.3(DLG4):c.1512dup (p.Lys505fs)	DLG4 (K445fs +5 more)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
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 1712513	NM_001321075.3(DLG4):c.1490del (p.Arg497fs)	DLG4 (R437fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62	GLikely pathogenic
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 1320093	NM_001321075.3(DLG4):c.1479-2A>G	DLG4	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder 62	GLikely 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 1305530	NM_001321075.3(DLG4):c.1478+1G>T	DLG4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1302124	NM_001321075.3(DLG4):c.1478G>C (p.Arg493Pro)	DLG4 (R433P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2477675	NM_001321075.3(DLG4):c.1472A>C (p.Lys491Thr)	DLG4 (K531T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440807	NM_001321075.3(DLG4):c.1462A>G (p.Ile488Val)	DLG4 (I428V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3055656	NM_001321075.3(DLG4):c.1446C>T (p.Thr482=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	DLG4-related disorder	GBenign
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 2238793	NM_001321075.3(DLG4):c.1429C>T (p.His477Tyr)	DLG4 (H474Y +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1686631	NM_001321075.3(DLG4):c.1427T>G (p.Val476Gly)	DLG4 (V416G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2500480	NM_001321075.3(DLG4):c.1423C>T (p.Arg475Trp)	DLG4 (R415W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 975682	NM_001321075.3(DLG4):c.1421G>A (p.Arg474Gln)	DLG4 (R414Q +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 3236621	NM_001321075.3(DLG4):c.1420C>T (p.Arg474Trp)	DLG4 (R414W +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 1328479	NM_001321075.3(DLG4):c.1412G>A (p.Trp471Ter)	DLG4 (W411* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability +1 more	GPathogenic
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 3011745	NM_001321075.3(DLG4):c.1364G>A (p.Arg455His)	DLG4 (R428H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 975681	NM_001321075.3(DLG4):c.1363C>T (p.Arg455Cys)	DLG4 (R395C +5 more)	Single nucleotide variant (missense variant +1 more)	DLG4-related disorder	GUncertain significance
Select item 2647318	NM_001321075.3(DLG4):c.1335C>T (p.Cys445=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 750587	NM_001321075.3(DLG4):c.1317C>T (p.Tyr439=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3036143	NM_001321075.3(DLG4):c.1305C>A (p.Ala435=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	DLG4-related disorder	GLikely benign
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 817726	NM_001321075.3(DLG4):c.1292del (p.Phe431fs)	DLG4, LOC126862479 (F371fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1686632	NM_001321075.3(DLG4):c.1271G>A (p.Arg424Gln)	DLG4, LOC126862479 (R364Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1303857	NM_001321075.3(DLG4):c.1270C>T (p.Arg424Trp)	DLG4, LOC126862479 (R364W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1302110	NM_001321075.3(DLG4):c.1252T>C (p.Ser418Pro)	DLG4, LOC126862479 (S358P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2264869	NM_001321075.3(DLG4):c.1240del (p.Ser414fs)	DLG4, LOC126862479 (S354fs +5 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2440806	NM_001321075.3(DLG4):c.1234A>C (p.Met412Leu)	DLG4, LOC126862479 (M352L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3082787	NM_001321075.3(DLG4):c.1216G>A (p.Asp406Asn)	LOC126862479, DLG4 (D346N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1335243	NM_001321075.3(DLG4):c.1184_1186+7del	DLG4, LOC126862479	Deletion (splice donor variant)	not provided	GPathogenic

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