ClinVar for MedGen (Select 898669) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370306	NM_014159.7(SETD2):c.5247G>T (p.Glu1749Asp)	SETD2 (E1705D +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 3338073	NM_014159.7(SETD2):c.4405dup (p.Met1469fs)	SETD2 (M1425fs +1 more)	Duplication (frameshift variant +1 more)	Luscan-Lumish syndrome	GLikely pathogenic
Select item 3254902	NM_014159.7(SETD2):c.6294A>G (p.Arg2098=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 3254633	NM_014159.7(SETD2):c.5881_5882insT (p.Glu1961fs)	SETD2 (E1917fs +1 more)	Insertion (frameshift variant +1 more)	Luscan-Lumish syndrome	GPathogenic
Select item 3242015	NM_014159.7(SETD2):c.6950C>T (p.Pro2317Leu)	SETD2 (P2273L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 3235989	NM_014159.7(SETD2):c.13C>T (p.Gln5Ter)	LOC129936665, SETD2 (Q5*)	Single nucleotide variant (5 prime UTR variant +2 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 3065245	NM_014159.7(SETD2):c.5123G>C (p.Arg1708Pro)	SETD2 (R1664P +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GLikely pathogenic
Select item 3064455	NM_014159.7(SETD2):c.1201C>T (p.Arg401Trp)	SETD2 (R357W +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 3022314	NM_014159.7(SETD2):c.1604A>G (p.Asn535Ser)	SETD2 (N535S +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 3012178	NM_014159.7(SETD2):c.4129A>G (p.Ile1377Val)	SETD2 (I1333V +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2981967	NM_014159.7(SETD2):c.7290C>T (p.Ser2430=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2977417	NM_014159.7(SETD2):c.3317T>G (p.Leu1106Trp)	SETD2 (L1062W +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2971516	NM_014159.7(SETD2):c.4302A>T (p.Gly1434=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2967166	NM_014159.7(SETD2):c.3571A>G (p.Lys1191Glu)	SETD2 (K1191E +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2960422	NM_014159.7(SETD2):c.6156T>C (p.Pro2052=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2900323	NM_014159.7(SETD2):c.5278-11C>T	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 2893363	NM_014159.7(SETD2):c.3519T>C (p.His1173=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2892329	NM_014159.7(SETD2):c.6700G>C (p.Glu2234Gln)	SETD2 (E2190Q +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2887116	NM_014159.7(SETD2):c.4454+10A>G	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 2886397	NM_014159.7(SETD2):c.4089C>G (p.Asp1363Glu)	SETD2 (D1363E +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2884201	NM_014159.7(SETD2):c.1340C>T (p.Ser447Phe)	SETD2 (S447F +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2881735	NM_014159.7(SETD2):c.5277+11T>C	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 2881354	NM_014159.7(SETD2):c.722C>T (p.Pro241Leu)	SETD2 (P197L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2872954	NM_014159.7(SETD2):c.2272G>C (p.Asp758His)	SETD2 (D758H +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2870431	NM_014159.7(SETD2):c.3941C>G (p.Pro1314Arg)	SETD2 (P1314R +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2870337	NM_014159.7(SETD2):c.409G>A (p.Val137Met)	SETD2 (V137M +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2867411	NM_014159.7(SETD2):c.6862C>A (p.Pro2288Thr)	SETD2 (P2288T +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2866222	NM_014159.7(SETD2):c.4362C>G (p.Phe1454Leu)	SETD2 (F1454L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2862742	NM_014159.7(SETD2):c.5398-13del	SETD2	Deletion (intron variant)	Luscan-Lumish syndrome	GBenign
Select item 2852068	NM_014159.7(SETD2):c.1152A>G (p.Glu384=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GBenign
Select item 2852067	NM_014159.7(SETD2):c.4767T>C (p.Phe1589=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GBenign
Select item 2838306	NM_014159.7(SETD2):c.7515T>C (p.Phe2505=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2826768	NM_014159.7(SETD2):c.3670A>C (p.Asn1224His)	SETD2 (N1180H +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2822954	NM_014159.7(SETD2):c.1345C>A (p.Pro449Thr)	SETD2 (P405T +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2814951	NM_014159.7(SETD2):c.1870T>A (p.Ser624Thr)	SETD2 (S580T +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2808652	NM_014159.7(SETD2):c.6710G>T (p.Ser2237Ile)	SETD2 (S2193I +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2808623	NM_014159.7(SETD2):c.5760G>A (p.Glu1920=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2806595	NM_014159.7(SETD2):c.996A>G (p.Ser332=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2797132	NM_014159.7(SETD2):c.4587-17T>G	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 2784950	NM_014159.7(SETD2):c.6942G>A (p.Gln2314=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2769667	NM_014159.7(SETD2):c.347T>C (p.Met116Thr)	SETD2 (M116T +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2764741	NM_014159.7(SETD2):c.3187A>G (p.Arg1063Gly)	SETD2 (R1019G +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2759789	NM_014159.7(SETD2):c.2049G>C (p.Leu683Phe)	SETD2 (L639F +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2756756	NM_014159.7(SETD2):c.5740A>G (p.Asn1914Asp)	SETD2 (N1914D +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2748257	NM_014159.7(SETD2):c.2972A>C (p.His991Pro)	SETD2 (H947P +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2742296	NM_014159.7(SETD2):c.1347A>G (p.Pro449=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2738523	NM_014159.7(SETD2):c.449A>G (p.His150Arg)	SETD2 (H106R +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2727421	NM_014159.7(SETD2):c.7083T>A (p.Pro2361=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2724817	NM_014159.7(SETD2):c.1866T>C (p.Asn622=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2723743	NM_014159.7(SETD2):c.1875T>G (p.Pro625=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2723012	NM_014159.7(SETD2):c.4587-7A>G	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 2715680	NM_014159.7(SETD2):c.1557A>G (p.Lys519=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2713154	NM_014159.7(SETD2):c.569C>T (p.Pro190Leu)	SETD2 (P190L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2712828	NM_014159.7(SETD2):c.3940C>T (p.Pro1314Ser)	SETD2 (P1270S +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2709696	NM_014159.7(SETD2):c.2273A>C (p.Asp758Ala)	SETD2 (D714A +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2704023	NM_014159.7(SETD2):c.3036T>G (p.Ser1012Arg)	SETD2 (S968R +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2703790	NM_014159.7(SETD2):c.5016-17C>G	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 2703789	NM_014159.7(SETD2):c.5085C>T (p.Val1695=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2702978	NM_014159.7(SETD2):c.1931A>G (p.Asp644Gly)	SETD2 (D600G +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2698808	NM_014159.7(SETD2):c.4227G>A (p.Gln1409=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2698070	NM_014159.7(SETD2):c.1757A>T (p.His586Leu)	SETD2 (H542L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2665018	NM_014159.7(SETD2):c.638C>G (p.Ala213Gly)	SETD2 (A169G +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2664189	NM_014159.7(SETD2):c.4043A>G (p.His1348Arg)	SETD2 (H1304R +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2653752	NM_014159.7(SETD2):c.11_22dup (p.Gln7_Pro8insLeuGlnProGln)	LOC129936665, SETD2	Duplication (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2636998	NM_014159.7(SETD2):c.3167C>T (p.Ser1056Leu)	SETD2 (S1012L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +2 more	GUncertain significance
Select item 2582584	NM_014159.7(SETD2):c.1771C>T (p.Gln591Ter)	SETD2 (Q547* +1 more)	Single nucleotide variant (nonsense +1 more)	Luscan-Lumish syndrome	GPathogenic
Select item 2573021	NM_014159.7(SETD2):c.5230A>G (p.Arg1744Gly)	SETD2 (R1700G +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2506384	NM_014159.7(SETD2):c.1717_1720del (p.Phe573fs)	SETD2 (F529fs +1 more)	Microsatellite (frameshift variant +1 more)	Luscan-Lumish syndrome	GLikely pathogenic
Select item 2502237	NM_014159.7(SETD2):c.2070A>C (p.Lys690Asn)	SETD2 (K646N +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2500086	NM_014159.7(SETD2):c.2589T>A (p.Ser863=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Intellectual developmental disorder, autosomal dominant 70 +2 more	GUncertain significance
Select item 2444125	NM_014159.7(SETD2):c.5521_5522del (p.Asp1841fs)	SETD2 (D1797fs +1 more)	Microsatellite (frameshift variant +1 more)	Luscan-Lumish syndrome	GLikely pathogenic
Select item 2443035	NM_014159.7(SETD2):c.2749dup (p.Ser917fs)	SETD2 (S873fs +1 more)	Duplication (frameshift variant +1 more)	Luscan-Lumish syndrome	GPathogenic
Select item 2435860	NM_014159.7(SETD2):c.4048T>A (p.Ser1350Thr)	SETD2 (S1306T +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 2431808	NM_014159.7(SETD2):c.3605T>A (p.Leu1202Gln)	SETD2 (L1158Q +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2425908	NC_000003.11:g.(?_47079136)_(47454675_?)dup	KIF9, KLHL18 +2 more	Duplication	Luscan-Lumish syndrome	GUncertain significance
Select item 2415192	NM_014159.7(SETD2):c.7039C>G (p.Gln2347Glu)	SETD2 (Q2303E +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2414335	NM_014159.7(SETD2):c.5277+16T>C	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 2210505	NM_014159.7(SETD2):c.5467A>G (p.Ile1823Val)	SETD2 (I1779V +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 2202320	NM_014159.7(SETD2):c.1275T>G (p.Ser425=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2201993	NM_014159.7(SETD2):c.6869A>T (p.Gln2290Leu)	SETD2 (Q2246L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GBenign
Select item 2201991	NM_014159.7(SETD2):c.7143C>T (p.Pro2381=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2193689	NM_014159.7(SETD2):c.6946A>G (p.Thr2316Ala)	SETD2 (T2272A +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2169117	NM_014159.7(SETD2):c.7602G>A (p.Glu2534=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2167798	NM_014159.7(SETD2):c.3450A>G (p.Arg1150=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2145354	NM_014159.7(SETD2):c.3243A>C (p.Glu1081Asp)	SETD2 (E1037D +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2141406	NM_014159.7(SETD2):c.88-21_88-20delinsTT	SETD2	Indel (intron variant)	Luscan-Lumish syndrome	GBenign
Select item 2141250	NM_014159.7(SETD2):c.1898T>G (p.Leu633Trp)	SETD2 (L589W +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2141074	NM_014159.7(SETD2):c.88-18T>C	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 2125544	NM_014159.7(SETD2):c.4917+19A>G	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 2113968	NM_014159.7(SETD2):c.3776G>A (p.Gly1259Asp)	SETD2 (G1215D +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2112616	NM_014159.7(SETD2):c.6176G>A (p.Arg2059Lys)	SETD2 (R2059K +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2087732	NM_014159.7(SETD2):c.6267G>A (p.Glu2089=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2085474	NM_014159.7(SETD2):c.2964A>G (p.Gly988=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2081693	NM_014159.7(SETD2):c.204G>A (p.Gln68=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2079236	NM_014159.7(SETD2):c.7649A>C (p.Lys2550Thr)	SETD2 (K2506T +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2076995	NM_014159.7(SETD2):c.4857A>G (p.Gln1619=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2058416	NM_014159.7(SETD2):c.133A>G (p.Met45Val)	SETD2 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2057730	NM_014159.7(SETD2):c.5547G>A (p.Ser1849=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GBenign
Select item 2057638	NM_014159.7(SETD2):c.1367G>A (p.Arg456Gln)	SETD2 (R456Q +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2056855	NM_014159.7(SETD2):c.4586+20C>T	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign

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