DLG5[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 150990	GRCh38/hg38 10q22.3(chr10:77614550-77851809)x3	DLG5, KCNMA1 +4 more	Copy number gain	See cases	GLikely benign
Select item 57888	GRCh38/hg38 10q22.3(chr10:77791298-78077947)x3	DLG5, DLG5-AS1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2315515	NM_004747.4(DLG5):c.5709G>C (p.Met1903Ile)	DLG5 (M1903I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082819	NM_004747.4(DLG5):c.5674G>A (p.Ala1892Thr)	DLG5 (A1892T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744382	NM_004747.4(DLG5):c.5656+10C>T	DLG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2489966	NM_004747.4(DLG5):c.5615C>G (p.Ala1872Gly)	DLG5 (A1872G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778464	NM_004747.4(DLG5):c.5607G>A (p.Gln1869=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082818	NM_004747.4(DLG5):c.5588A>T (p.Gln1863Leu)	DLG5 (Q1863L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91960	NM_004747.4(DLG5):c.5486A>C (p.His1829Pro)	DLG5 (H1829P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751461	NM_004747.4(DLG5):c.5460T>C (p.Ile1820=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2397065	NM_004747.4(DLG5):c.5407G>A (p.Val1803Met)	DLG5 (V1803M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744749	NM_004747.4(DLG5):c.5385C>T (p.Ser1795=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2355157	NM_004747.4(DLG5):c.5377C>T (p.Arg1793Trp)	DLG5 (R1793W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410463	NM_004747.4(DLG5):c.5351A>G (p.Lys1784Arg)	DLG5 (K1784R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776519	NM_004747.4(DLG5):c.5216T>C (p.Leu1739Pro)	DLG5 (L1739P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776520	NM_004747.4(DLG5):c.5212G>A (p.Ala1738Thr)	DLG5 (A1738T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3082816	NM_004747.4(DLG5):c.5083C>G (p.His1695Asp)	DLG5 (H1695D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284300	NM_004747.4(DLG5):c.5069G>A (p.Arg1690Gln)	DLG5 (R1690Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388655	NM_004747.4(DLG5):c.5068C>T (p.Arg1690Trp)	DLG5 (R1690W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223856	NM_004747.4(DLG5):c.5045C>T (p.Ala1682Val)	DLG5 (A1682V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617896	NM_004747.4(DLG5):c.5038C>G (p.Leu1680Val)	DLG5 (L1680V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718501	NM_004747.4(DLG5):c.5016T>C (p.Asp1672=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2616358	NM_004747.4(DLG5):c.4838G>A (p.Ser1613Asn)	DLG5 (S1613N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728461	NM_004747.4(DLG5):c.4819G>A (p.Asp1607Asn)	DLG5 (D1607N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778465	NM_004747.4(DLG5):c.4799C>T (p.Ala1600Val)	DLG5 (A1600V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3082814	NM_004747.4(DLG5):c.4766A>G (p.Lys1589Arg)	DLG5 (K1589R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220713	NM_004747.4(DLG5):c.4737G>C (p.Gln1579His)	DLG5 (Q1579H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353080	NM_004747.4(DLG5):c.4736A>T (p.Gln1579Leu)	DLG5 (Q1579L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082813	NM_004747.4(DLG5):c.4720G>A (p.Val1574Ile)	DLG5 (V1574I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082812	NM_004747.4(DLG5):c.4691A>G (p.Tyr1564Cys)	DLG5 (Y1564C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707867	NM_004747.4(DLG5):c.4662C>T (p.Asp1554=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2394357	NM_004747.4(DLG5):c.4624G>A (p.Val1542Met)	DLG5 (V1542M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366809	NM_004747.4(DLG5):c.4477G>C (p.Ala1493Pro)	DLG5 (A1493P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305886	NM_004747.4(DLG5):c.4475A>G (p.Asp1492Gly)	DLG5 (D1492G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475636	NM_004747.4(DLG5):c.4436C>A (p.Thr1479Asn)	DLG5 (T1479N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393094	NM_004747.4(DLG5):c.4427G>T (p.Gly1476Val)	DLG5 (G1476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623228	NM_004747.4(DLG5):c.4382C>T (p.Pro1461Leu)	DLG5 (P1461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726663	NM_004747.4(DLG5):c.4341C>T (p.Ala1447=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2388537	NM_004747.4(DLG5):c.4315C>T (p.Arg1439Trp)	DLG5 (R1439W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410884	NM_004747.4(DLG5):c.4291G>A (p.Val1431Met)	DLG5 (V1431M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082811	NM_004747.4(DLG5):c.4258A>G (p.Thr1420Ala)	DLG5 (T1420A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286099	NM_004747.4(DLG5):c.4111G>A (p.Gly1371Ser)	DLG5 (G1371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550858	NM_004747.4(DLG5):c.4037A>G (p.Glu1346Gly)	DLG5 (E1346G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082809	NM_004747.4(DLG5):c.3940T>C (p.Ser1314Pro)	DLG5 (S1314P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559825	NM_004747.4(DLG5):c.3926T>C (p.Ile1309Thr)	DLG5 (I1309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541385	NM_004747.4(DLG5):c.3895T>A (p.Cys1299Ser)	DLG5 (C1299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050412	NM_004747.4(DLG5):c.3880G>T (p.Val1294Leu)	DLG5 (V1294L)	Single nucleotide variant (missense variant)	DLG5-related condition	GLikely benign
Select item 2220808	NM_004747.4(DLG5):c.3728A>C (p.Tyr1243Ser)	DLG5 (Y1243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595682	NM_004747.4(DLG5):c.3688C>T (p.Arg1230Cys)	DLG5 (R1230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779117	NM_004747.4(DLG5):c.3672-5C>T	DLG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2257368	NM_004747.4(DLG5):c.3635C>T (p.Ala1212Val)	DLG5 (A1212V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340716	NM_004747.4(DLG5):c.3631C>T (p.Pro1211Ser)	DLG5 (P1211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456126	NM_004747.4(DLG5):c.3599G>A (p.Arg1200His)	DLG5 (R1200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588836	NM_004747.4(DLG5):c.3575T>C (p.Leu1192Pro)	DLG5 (L1192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370457	NM_004747.4(DLG5):c.3547A>G (p.Thr1183Ala)	DLG5 (T1183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082807	NM_004747.4(DLG5):c.3539G>A (p.Arg1180Gln)	DLG5 (R1180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293912	NM_004747.4(DLG5):c.3500C>G (p.Pro1167Arg)	DLG5 (P1167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280620	NM_004747.4(DLG5):c.3476A>G (p.His1159Arg)	DLG5 (H1159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481984	NM_004747.4(DLG5):c.3433C>T (p.Leu1145Phe)	DLG5 (L1145F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631079	NM_004747.4(DLG5):c.3431A>G (p.Glu1144Gly)	DLG5 (E1144G)	Single nucleotide variant (missense variant)	DLG5-related condition	GUncertain significance
Select item 2614809	NM_004747.4(DLG5):c.3362C>T (p.Pro1121Leu)	DLG5 (P1121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357142	NM_004747.4(DLG5):c.3359G>C (p.Arg1120Pro)	DLG5 (R1120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082806	NM_004747.4(DLG5):c.3358C>G (p.Arg1120Gly)	DLG5 (R1120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465151	NM_004747.4(DLG5):c.3299C>T (p.Ser1100Phe)	DLG5 (S1100F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251350	NM_004747.4(DLG5):c.3245A>G (p.Asp1082Gly)	DLG5 (D1082G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209828	NM_004747.4(DLG5):c.3215G>A (p.Arg1072His)	DLG5 (R1072H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218653	NM_004747.4(DLG5):c.3200G>A (p.Arg1067His)	DLG5 (R1067H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3082805	NM_004747.4(DLG5):c.3163G>A (p.Val1055Met)	DLG5 (V1055M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786781	NM_004747.4(DLG5):c.3144G>A (p.Pro1048=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2692349	NM_004747.4(DLG5):c.3081_3106del (p.Arg1027fs)	DLG5 (R1027fs)	Deletion (frameshift variant)	Yuksel-Vogel-Bauer syndrome	GPathogenic
Select item 2519993	NM_004747.4(DLG5):c.3097G>A (p.Glu1033Lys)	DLG5 (E1033K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744300	NM_004747.4(DLG5):c.3096C>T (p.Ser1032=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2294562	NM_004747.4(DLG5):c.3053G>A (p.Arg1018Lys)	DLG5 (R1018K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308073	NM_004747.4(DLG5):c.3034C>A (p.Pro1012Thr)	DLG5 (P1012T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560285	NM_004747.4(DLG5):c.3025C>A (p.Pro1009Thr)	DLG5 (P1009T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082804	NM_004747.4(DLG5):c.3007C>A (p.Pro1003Thr)	DLG5 (P1003T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082803	NM_004747.4(DLG5):c.2992G>A (p.Ala998Thr)	DLG5 (A998T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790275	NM_004747.4(DLG5):c.2991T>G (p.Pro997=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2633473	NM_004747.4(DLG5):c.2981G>A (p.Gly994Asp)	DLG5 (G994D)	Single nucleotide variant (missense variant)	DLG5-related condition	GUncertain significance
Select item 2217558	NM_004747.4(DLG5):c.2968T>C (p.Tyr990His)	DLG5 (Y990H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328990	NM_004747.4(DLG5):c.2941C>T (p.Arg981Cys)	DLG5 (R981C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343145	NM_004747.4(DLG5):c.2899C>T (p.Pro967Ser)	DLG5 (P967S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747603	NM_004747.4(DLG5):c.2856C>T (p.Leu952=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608179	NM_004747.4(DLG5):c.2852T>C (p.Met951Thr)	DLG5 (M951T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750400	NM_004747.4(DLG5):c.2832C>T (p.Gly944=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2220807	NM_004747.4(DLG5):c.2783T>C (p.Val928Ala)	DLG5 (V928A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603107	NM_004747.4(DLG5):c.2771G>A (p.Gly924Asp)	DLG5 (G924D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637058	NM_004747.4(DLG5):c.2737C>T (p.Arg913Trp)	DLG5 (R913W)	Single nucleotide variant (missense variant)	DLG5-related condition	GUncertain significance
Select item 2475387	NM_004747.4(DLG5):c.2722G>C (p.Val908Leu)	DLG5 (V908L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082802	NM_004747.4(DLG5):c.2708G>A (p.Arg903His)	DLG5 (R903H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082801	NM_004747.4(DLG5):c.2706C>A (p.Asp902Glu)	DLG5 (D902E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082800	NM_004747.4(DLG5):c.2685C>A (p.Phe895Leu)	DLG5 (F895L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476262	NM_004747.4(DLG5):c.2681C>G (p.Ser894Cys)	DLG5 (S894C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047252	NM_004747.4(DLG5):c.2669G>A (p.Arg890His)	DLG5 (R890H)	Single nucleotide variant (missense variant)	DLG5-related condition	GLikely benign
Select item 3082799	NM_004747.4(DLG5):c.2546C>T (p.Thr849Met)	DLG5 (T849M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082798	NM_004747.4(DLG5):c.2530A>G (p.Thr844Ala)	DLG5 (T844A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640621	NM_004747.4(DLG5):c.2526G>A (p.Thr842=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752365	NM_004747.4(DLG5):c.2488C>T (p.His830Tyr)	DLG5 (H830Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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