DLG2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 155228	GRCh38/hg38 11q14.1(chr11:83066124-84475390)x3	ANKRD42, ANKRD42-DT +28 more	Copy number gain	See cases	GUncertain significance
Select item 2300239	NM_001142699.3(DLG2):c.2873T>C (p.Val958Ala)	DLG2 (V331A +23 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082773	NM_001142699.3(DLG2):c.2852T>C (p.Ile951Thr)	DLG2 (I293T +23 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782298	NM_001142699.3(DLG2):c.2832A>G (p.Gln944=)	DLG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3082772	NM_001142699.3(DLG2):c.2618G>A (p.Arg873Lys)	DLG2 (R215K +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771749	NM_001142699.3(DLG2):c.2412T>C (p.Ser804=)	DLG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2545032	NM_001142699.3(DLG2):c.2389C>G (p.Arg797Gly)	DLG2 (R589G +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773011	NM_001142699.3(DLG2):c.2389C>A (p.Arg797=)	DLG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2400409	NM_001142699.3(DLG2):c.2354C>T (p.Thr785Ile)	DLG2 (T158I +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619233	NM_001142699.3(DLG2):c.2276A>G (p.Glu759Gly)	DLG2 (E641G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2635091	NM_001142699.3(DLG2):c.2194-3_2194-2del	DLG2	Microsatellite (intron variant +1 more)	DLG2-related disorder	GUncertain significance
Select item 2632669	NM_001142699.3(DLG2):c.1969G>T (p.Asp657Tyr)	DLG2 (D34Y +13 more)	Single nucleotide variant (missense variant +2 more)	DLG2-related disorder	GUncertain significance
Select item 2334012	NM_001142699.3(DLG2):c.1924C>T (p.Arg642Cys)	DLG2 (R434C +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2632368	NM_001142699.3(DLG2):c.1825_1825+3del	DLG2	Deletion (splice donor variant)	DLG2-related disorder	GUncertain significance
Select item 3082771	NM_001142699.3(DLG2):c.1784C>A (p.Ala595Asp)	DLG2 (A448D +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550836	NM_001142699.3(DLG2):c.1781G>C (p.Gly594Ala)	DLG2 (G386A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789630	NM_001142699.3(DLG2):c.1749A>T (p.Ala583=)	DLG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3082770	NM_001142699.3(DLG2):c.1748C>T (p.Ala583Val)	DLG2 (A436V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082769	NM_001142699.3(DLG2):c.1693G>A (p.Glu565Lys)	DLG2 (E479K +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293999	NM_001142699.3(DLG2):c.1637G>A (p.Gly546Glu)	DLG2 (G338E +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082768	NM_001142699.3(DLG2):c.1556C>T (p.Ser519Phe)	DLG2 (S414F +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082767	NM_001142699.3(DLG2):c.1546C>T (p.Arg516Trp)	DLG2 (R369W +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 252537	NM_001142699.3(DLG2):c.1541T>C (p.Leu514Pro)	DLG2 (L514P +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2570513	NM_001142699.3(DLG2):c.1534A>G (p.Met512Val)	DLG2 (M322V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3038904	NM_001142699.3(DLG2):c.1516G>A (p.Ala506Thr)	DLG2 (A298T +10 more)	Single nucleotide variant (missense variant +1 more)	DLG2-related disorder	GLikely benign
Select item 3082766	NM_001142699.3(DLG2):c.1444G>C (p.Ala482Pro)	DLG2 (A344P +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288026	NM_001142699.3(DLG2):c.1430G>A (p.Ser477Asn)	DLG2 (S488N +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368107	NM_001142699.3(DLG2):c.1411C>T (p.Pro471Ser)	DLG2 (P333S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 717625	NM_001142699.3(DLG2):c.1377A>G (p.Leu459=)	DLG2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3082764	NM_001142699.3(DLG2):c.1345C>T (p.Pro449Ser)	DLG2 (P302S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469701	NM_001142699.3(DLG2):c.1316T>A (p.Met439Lys)	DLG2 (M292K +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2664635	NM_001142699.3(DLG2):c.1300C>G (p.Pro434Ala)	DLG2 (P278A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2631467	NM_001142699.3(DLG2):c.1235C>G (p.Ser412Cys)	DLG2 (S256C +8 more)	Single nucleotide variant (missense variant +1 more)	DLG2-related disorder	GUncertain significance
Select item 2335070	NM_001142699.3(DLG2):c.1178A>G (p.Tyr393Cys)	DLG2 (Y307C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2634839	NM_001142699.3(DLG2):c.1157C>T (p.Thr386Ile)	DLG2 (T230I +8 more)	Single nucleotide variant (missense variant +1 more)	DLG2-related disorder	GUncertain significance
Select item 2630980	NM_001142699.3(DLG2):c.1117A>C (p.Thr373Pro)	DLG2 (T217P +8 more)	Single nucleotide variant (missense variant +1 more)	DLG2-related disorder	GUncertain significance
Select item 2594391	NM_001142699.3(DLG2):c.1001A>G (p.Asp334Gly)	DLG2 (D178G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234663	NM_001142699.3(DLG2):c.986T>C (p.Val329Ala)	DLG2 (V182A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296406	NM_001142699.3(DLG2):c.800C>T (p.Ser267Phe)	DLG2, LOC126861281 (S279F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2688940	NM_001142699.3(DLG2):c.770G>A (p.Arg257Gln)	DLG2, LOC126861281 (R101Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 754596	NM_001142699.3(DLG2):c.660G>T (p.Gly220=)	DLG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642237	NM_001142699.3(DLG2):c.657G>C (p.Gly219=)	DLG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 545149	NC_000011.10:g.(?_84114371)_(84650078_?)del	LOC130006541, LOC130006542 +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 152828	GRCh38/hg38 11q14.1(chr11:84241605-84580716)x3	DLG2, LOC130006541 +1 more	Copy number gain	See cases	GUncertain significance
Select item 148489	GRCh38/hg38 11q14.1(chr11:84359840-84590108)x1	DLG2, LOC130006542	Copy number loss	See cases	GLikely benign
Select item 545150	NC_000011.10:g.(?_84405313)_(84547789_?)del	DLG2, LOC130006542	Deletion	Schizophrenia	GLikely pathogenic
Select item 150875	GRCh38/hg38 11q14.1(chr11:84446955-84708445)x1	DLG2	Copy number loss	See cases	GLikely benign
Select item 2642238	NM_001142699.3(DLG2):c.423A>G (p.Val141=)	DLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158661	NM_001142699.3(DLG2):c.418G>A (p.Glu140Lys)	DLG2 (E35K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2281452	NM_001142699.3(DLG2):c.394C>T (p.His132Tyr)	DLG2 (H144Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240571	NM_001142699.3(DLG2):c.382G>C (p.Ala128Pro)	DLG2 (A128P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150919	GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 148207	GRCh38/hg38 11q14.1(chr11:84786276-84917919)x1	DLG2	Copy number loss	See cases	GLikely benign
Select item 545151	NC_000011.10:g.(?_84809995)_(84986152_?)del	DLG2	Deletion	Schizophrenia	GLikely pathogenic
Select item 144652	GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 160941	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 33851	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 545152	NC_000011.10:g.(?_84877230)_(84963429_?)del	DLG2	Deletion	Schizophrenia	GLikely pathogenic
Select item 151355	GRCh38/hg38 11q14.1(chr11:84896337-85073129)x1	DLG2, LOC130006543	Copy number loss	See cases	GLikely benign
Select item 2688941	NM_001142699.3(DLG2):c.335G>A (p.Trp112Ter)	DLG2 (W112*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 789631	NM_001142699.3(DLG2):c.177A>G (p.Lys59=)	DLG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 761011	NM_001142699.3(DLG2):c.141A>G (p.Thr47=)	DLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1219849	NM_001351274.2(DLG2):c.-705C>T	DLG2, LOC130006547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 671602	NM_001351274.2(DLG2):c.-748G>A	DLG2, LOC130006547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 684192	NM_001351274.2(DLG2):c.-784A>T	DLG2, LOC130006547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3063216	GRCh37/hg19 11q14.1(chr11:83920298-84049580)x1	DLG2	Copy number loss	not specified	GUncertain significance
Select item 2685414	GRCh37/hg19 11q14.1(chr11:84331762-84637693)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 2685413	GRCh37/hg19 11q14.1(chr11:83853998-84135406)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 2685412	GRCh37/hg19 11q14.1(chr11:83827867-84146142)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1808160	GRCh37/hg19 11q14.1(chr11:82859094-83324406)x3	ANKRD42, CCDC90B +2 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527657	GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693)	CCDC83, CCDC89 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340393	GRCh37/hg19 11q14.1(chr11:84070025-84430577)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 1340076	GRCh37/hg19 11q14.1(chr11:84068267-84316748)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980961	GRCh37/hg19 11q14.1(chr11:84413218-84622563)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 980960	GRCh37/hg19 11q14.1(chr11:82618269-83454773)x3	ANKRD42, CCDC90B +4 more	Copy number gain	not provided	GUncertain significance
Select item 980958	GRCh37/hg19 11q14.1(chr11:84977926-85065507)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 815448	GRCh37/hg19 11q14.1(chr11:84532769-84667581)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 815447	GRCh37/hg19 11q14.1(chr11:84511722-84654573)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 815446	GRCh37/hg19 11q14.1(chr11:84459458-84654573)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 815445	GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1	TMEM126A, PRSS23 +13 more	Copy number loss	not provided	GPathogenic
Select item 688771	GRCh37/hg19 11q14.1(chr11:84310436-84437544)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 688480	GRCh37/hg19 11q14.1(chr11:84233859-84337708)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 688078	GRCh37/hg19 11q14.1(chr11:84068533-84315237)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 687909	GRCh37/hg19 11q14.1(chr11:84337707-84560640)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 685857	GRCh37/hg19 11q14.1(chr11:84688061-84858221)x3	DLG2	Copy number gain	not provided	GUncertain significance
Select item 685496	GRCh37/hg19 11q14.1(chr11:84386275-84666945)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 685317	GRCh37/hg19 11q14.1(chr11:84415752-84622563)x1	DLG2	Copy number loss	not provided	GUncertain significance
Select item 685037	GRCh37/hg19 11q14.1(chr11:83325218-83432435)x1	DLG2	Copy number loss	not provided	GUncertain significance

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