ClinVar for Gene (Select 9231) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3082820	NM_004747.4(DLG5):c.889G>A (p.Glu297Lys)	DLG5 (E297K)	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 3082818	NM_004747.4(DLG5):c.5588A>T (p.Gln1863Leu)	DLG5 (Q1863L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082817	NM_004747.4(DLG5):c.512C>T (p.Thr171Met)	DLG5 (T171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3082814	NM_004747.4(DLG5):c.4766A>G (p.Lys1589Arg)	DLG5 (K1589R)	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 3082811	NM_004747.4(DLG5):c.4258A>G (p.Thr1420Ala)	DLG5 (T1420A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082810	NM_004747.4(DLG5):c.409C>T (p.Leu137Phe)	DLG5 (L137F)	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 3082807	NM_004747.4(DLG5):c.3539G>A (p.Arg1180Gln)	DLG5 (R1180Q)	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 3082805	NM_004747.4(DLG5):c.3163G>A (p.Val1055Met)	DLG5 (V1055M)	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 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 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 3082797	NM_004747.4(DLG5):c.2258G>C (p.Gly753Ala)	DLG5 (G753A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082796	NM_004747.4(DLG5):c.1946C>T (p.Pro649Leu)	DLG5 (P649L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082795	NM_004747.4(DLG5):c.1658G>A (p.Arg553His)	DLG5 (R553H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082794	NM_004747.4(DLG5):c.1657C>T (p.Arg553Cys)	DLG5 (R553C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082793	NM_004747.4(DLG5):c.1299G>T (p.Lys433Asn)	DLG5 (K433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082791	NM_004747.4(DLG5):c.1181A>G (p.Gln394Arg)	DLG5 (Q394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063172	GRCh37/hg19 10q22.3(chr10:79656591-79887500)x3	DLG5, POLR3A +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063170	GRCh37/hg19 10q22.3(chr10:79656591-79887456)x3	DLG5, POLR3A +1 more	Copy number gain	not specified	GUncertain significance
Select item 3054839	NM_004747.4(DLG5):c.389C>T (p.Ala130Val)	DLG5 (A130V)	Single nucleotide variant (missense variant)	DLG5-related disorder	GLikely benign
Select item 3050412	NM_004747.4(DLG5):c.3880G>T (p.Val1294Leu)	DLG5 (V1294L)	Single nucleotide variant (missense variant)	DLG5-related disorder	GLikely benign
Select item 3047252	NM_004747.4(DLG5):c.2669G>A (p.Arg890His)	DLG5 (R890H)	Single nucleotide variant (missense variant)	DLG5-related disorder	GLikely benign
Select item 3043769	NM_004747.4(DLG5):c.268G>C (p.Gly90Arg)	DLG5 (G90R)	Single nucleotide variant (missense variant)	DLG5-related disorder	GUncertain significance
Select item 3025859	NM_004747.4(DLG5):c.1406C>T (p.Ala469Val)	DLG5 (A469V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2692350	NM_004747.4(DLG5):c.2461C>T (p.Arg821Ter)	DLG5 (R821*)	Single nucleotide variant (nonsense)	Yuksel-Vogel-Bauer syndrome	GPathogenic
Select item 2692349	NM_004747.4(DLG5):c.3081_3106del (p.Arg1027fs)	DLG5 (R1027fs)	Deletion (frameshift variant)	Yuksel-Vogel-Bauer syndrome	GPathogenic
Select item 2684609	GRCh37/hg19 10q22.3(chr10:79535057-79931986)x3	DLG5, POLR3A +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640621	NM_004747.4(DLG5):c.2526G>A (p.Thr842=)	DLG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637058	NM_004747.4(DLG5):c.2737C>T (p.Arg913Trp)	DLG5 (R913W)	Single nucleotide variant (missense variant)	DLG5-related disorder	GUncertain significance
Select item 2633473	NM_004747.4(DLG5):c.2981G>A (p.Gly994Asp)	DLG5 (G994D)	Single nucleotide variant (missense variant)	DLG5-related disorder	GUncertain significance
Select item 2631079	NM_004747.4(DLG5):c.3431A>G (p.Glu1144Gly)	DLG5 (E1144G)	Single nucleotide variant (missense variant)	DLG5-related disorder	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 2617896	NM_004747.4(DLG5):c.5038C>G (p.Leu1680Val)	DLG5 (L1680V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2614809	NM_004747.4(DLG5):c.3362C>T (p.Pro1121Leu)	DLG5 (P1121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2603107	NM_004747.4(DLG5):c.2771G>A (p.Gly924Asp)	DLG5 (G924D)	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 2593854	NM_004747.4(DLG5):c.1705C>T (p.Arg569Cys)	DLG5 (R569C)	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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2559825	NM_004747.4(DLG5):c.3926T>C (p.Ile1309Thr)	DLG5 (I1309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558126	NM_004747.4(DLG5):c.515A>G (p.His172Arg)	DLG5 (H172R)	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 2541385	NM_004747.4(DLG5):c.3895T>A (p.Cys1299Ser)	DLG5 (C1299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530355	NM_004747.4(DLG5):c.1483G>A (p.Val495Ile)	DLG5 (V495I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2510253	NM_004747.4(DLG5):c.392C>T (p.Pro131Leu)	DLG5 (P131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2482501	NM_004747.4(DLG5):c.514C>A (p.His172Asn)	DLG5 (H172N)	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 2476262	NM_004747.4(DLG5):c.2681C>G (p.Ser894Cys)	DLG5 (S894C)	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 2475387	NM_004747.4(DLG5):c.2722G>C (p.Val908Leu)	DLG5 (V908L)	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 2456126	NM_004747.4(DLG5):c.3599G>A (p.Arg1200His)	DLG5 (R1200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425796	NC_000010.10:g.(?_75671314)_(79799964_?)dup	AP3M1, ADK +16 more	Duplication	Genitopatellar syndrome	GUncertain significance
Select item 2425682	NC_000010.10:g.(?_79163600)_(79799964_?)dup	DLG5, KCNMA1 +2 more	Duplication	not provided	GUncertain significance
Select item 2424382	NC_000010.10:g.(?_79397003)_(79603484_?)dup	DLG5, KCNMA1	Duplication	Generalized epilepsy-paroxysmal dyskinesia syndrome	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 2410463	NM_004747.4(DLG5):c.5351A>G (p.Lys1784Arg)	DLG5 (K1784R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409645	NM_004747.4(DLG5):c.1225A>G (p.Thr409Ala)	DLG5 (T409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409358	NM_004747.4(DLG5):c.1928T>C (p.Val643Ala)	DLG5 (V643A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397083	NM_004747.4(DLG5):c.899A>G (p.Asn300Ser)	DLG5 (N300S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2395043	NM_004747.4(DLG5):c.1712A>G (p.Gln571Arg)	DLG5 (Q571R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2393094	NM_004747.4(DLG5):c.4427G>T (p.Gly1476Val)	DLG5 (G1476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389969	NM_004747.4(DLG5):c.1427C>T (p.Ala476Val)	DLG5 (A476V)	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 2388537	NM_004747.4(DLG5):c.4315C>T (p.Arg1439Trp)	DLG5 (R1439W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383383	NM_004747.4(DLG5):c.1487A>G (p.Glu496Gly)	DLG5 (E496G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378845	NM_004747.4(DLG5):c.1009C>T (p.Arg337Cys)	DLG5 (R337C)	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 2368921	NM_004747.4(DLG5):c.1547C>T (p.Ala516Val)	DLG5 (A516V)	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 2357142	NM_004747.4(DLG5):c.3359G>C (p.Arg1120Pro)	DLG5 (R1120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2354427	NM_004747.4(DLG5):c.1142A>G (p.His381Arg)	DLG5 (H381R)	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 2349234	NM_004747.4(DLG5):c.2419A>G (p.Ile807Val)	DLG5 (I807V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349207	NM_004747.4(DLG5):c.2011G>A (p.Val671Ile)	DLG5 (V671I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346967	NM_004747.4(DLG5):c.1082C>T (p.Thr361Met)	DLG5 (T361M)	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 2340716	NM_004747.4(DLG5):c.3631C>T (p.Pro1211Ser)	DLG5 (P1211S)	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 2320664	NM_004747.4(DLG5):c.611G>A (p.Ser204Asn)	DLG5 (S204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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