29072[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 1810663	NM_014159.7(SETD2):c.7688del (p.Glu2562_Leu2563insTer)	SETD2	Deletion (nonsense +2 more)	not provided	GUncertain significance
Select item 954883	NM_014159.7(SETD2):c.7685A>G (p.Glu2562Gly)	SETD2 (E2518G +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 1614886	NM_014159.7(SETD2):c.7682C>T (p.Thr2561Ile)	SETD2 (T2517I +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 939173	NM_014159.7(SETD2):c.7660G>A (p.Val2554Ile)	SETD2 (V2510I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 2580047	NM_014159.7(SETD2):c.7642A>G (p.Met2548Val)	SETD2 (M2504V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1581166	NM_014159.7(SETD2):c.7625A>C (p.Glu2542Ala)	SETD2 (E2498A +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 3369753	NM_014159.7(SETD2):c.7624G>C (p.Glu2542Gln)	SETD2 (E2498Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1088759	NM_014159.7(SETD2):c.7608G>A (p.Val2536=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
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 422254	NM_014159.7(SETD2):c.7534-1G>T	SETD2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3369546	NM_014159.7(SETD2):c.7529G>A (p.Arg2510His)	SETD2 (R2466H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 707279	NM_014159.7(SETD2):c.7500C>T (p.Thr2500=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1490895	NM_014159.7(SETD2):c.7468C>T (p.Arg2490Trp)	SETD2 (R2446W +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2032932	NM_014159.7(SETD2):c.7467C>T (p.Tyr2489=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 762707	NM_014159.7(SETD2):c.7464T>A (p.Pro2488=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 1308095	NM_014159.7(SETD2):c.7447G>T (p.Val2483Phe)	SETD2 (V2439F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 841578	NM_014159.7(SETD2):c.7447G>A (p.Val2483Ile)	SETD2 (V2483I +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1158513	NM_014159.7(SETD2):c.7446C>T (p.Ile2482=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 805407	NM_014159.7(SETD2):c.7444A>G (p.Ile2482Val)	SETD2 (I2482V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 633526	NM_014159.7(SETD2):c.7438_7439insG (p.Gln2480fs)	SETD2 (Q2436fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2435856	NM_014159.7(SETD2):c.7432-4G>C	SETD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 759752	NM_014159.7(SETD2):c.7432-10C>T	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 1292763	NM_014159.7(SETD2):c.7432-94G>A	SETD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192016	NM_014159.7(SETD2):c.7432-102A>T	SETD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221230	NM_014159.7(SETD2):c.7431+67C>T	SETD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 954414	NM_014159.7(SETD2):c.7431+6_7431+28del	SETD2	Deletion (splice donor variant)	Luscan-Lumish syndrome	GBenign
Select item 2578941	NM_014159.7(SETD2):c.7431+3A>T	SETD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 475540	NM_014159.7(SETD2):c.7374A>G (p.Ala2458=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 956457	NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)	SETD2 (S2408L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 135208	NM_014159.7(SETD2):c.7352C>T (p.Ala2451Val)	SETD2 (A2451V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 754027	NM_014159.7(SETD2):c.7351-4T>G	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 1251098	NM_014159.7(SETD2):c.7351-123G>A	SETD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252756	NM_014159.7(SETD2):c.7350+44C>T	SETD2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 578649	NM_014159.7(SETD2):c.7350+6T>C	SETD2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3027081	NM_014159.7(SETD2):c.7349A>G (p.Lys2450Arg)	SETD2 (K2406R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1301705	NM_014159.7(SETD2):c.7346T>C (p.Met2449Thr)	SETD2 (M2405T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1714545	NM_014159.7(SETD2):c.7343C>T (p.Pro2448Leu)	SETD2 (P2404L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 1085935	NM_014159.7(SETD2):c.7332T>C (p.Tyr2444=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 752718	NM_014159.7(SETD2):c.7305T>C (p.Ala2435=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
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 475539	NM_014159.7(SETD2):c.7284T>C (p.Asp2428=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GBenign
Select item 841622	NM_014159.7(SETD2):c.7270A>G (p.Ser2424Gly)	SETD2 (S2380G +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 1131764	NM_014159.7(SETD2):c.7261A>G (p.Thr2421Ala)	SETD2 (T2377A +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2502090	NM_014159.7(SETD2):c.7249T>C (p.Trp2417Arg)	SETD2 (W2373R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3258047	NM_014159.7(SETD2):c.7242G>C (p.Gln2414His)	SETD2 (Q2414H +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 2662253	NM_014159.7(SETD2):c.7242G>T (p.Gln2414His)	SETD2 (Q2370H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 724242	NM_014159.7(SETD2):c.7239-8C>T	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome +1 more	GLikely benign
Select item 1213284	NM_014159.7(SETD2):c.7238+269G>C	SETD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187132	NM_014159.7(SETD2):c.7238+53G>A	SETD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 748744	NM_014159.7(SETD2):c.7238+7G>A	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 1326577	NM_014159.7(SETD2):c.7210A>G (p.Lys2404Glu)	SETD2 (K2360E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1010691	NM_014159.7(SETD2):c.7187A>G (p.Lys2396Arg)	SETD2 (K2352R +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 1696880	NM_014159.7(SETD2):c.7168G>A (p.Val2390Ile)	SETD2 (V2346I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 475538	NM_014159.7(SETD2):c.7164C>T (p.Thr2388=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +1 more	GBenign/Likely benign
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 1145711	NM_014159.7(SETD2):c.7143C>G (p.Pro2381=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 936038	NM_014159.7(SETD2):c.7142C>A (p.Pro2381His)	SETD2 (P2337H +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 1109959	NM_014159.7(SETD2):c.7137G>A (p.Pro2379=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 3258048	NM_014159.7(SETD2):c.7125del (p.Leu2376fs)	SETD2 (L2332fs +1 more)	Deletion (frameshift variant +1 more)	Neoplasm	OLikely oncogenic
Select item 1996456	NM_014159.7(SETD2):c.7101T>C (p.Ser2367=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 745437	NM_014159.7(SETD2):c.7101T>G (p.Ser2367=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 759570	NM_014159.7(SETD2):c.7099-5T>C	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 1216761	NM_014159.7(SETD2):c.7098+320C>T	SETD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210562	NM_014159.7(SETD2):c.7098+235C>T	SETD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248993	NM_014159.7(SETD2):c.7098+140A>T	SETD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292767	NM_014159.7(SETD2):c.7098+128T>C	SETD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 758247	NM_014159.7(SETD2):c.7098+10G>A	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 2500492	NM_014159.7(SETD2):c.7096C>T (p.Pro2366Ser)	SETD2 (P2322S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 582056	NM_014159.7(SETD2):c.7093C>G (p.Gln2365Glu)	SETD2 (Q2365E +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GLikely benign
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 2445841	NM_014159.7(SETD2):c.7073C>A (p.Pro2358Gln)	SETD2 (P2314Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767107	NM_014159.7(SETD2):c.7071A>G (p.Ala2357=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 542248	NM_014159.7(SETD2):c.7068T>C (p.Val2356=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GBenign
Select item 1164423	NM_014159.7(SETD2):c.7063A>G (p.Ile2355Val)	SETD2 (I2311V +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GBenign
Select item 475537	NM_014159.7(SETD2):c.7060A>G (p.Thr2354Ala)	SETD2 (T2354A +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GBenign/Likely benign
Select item 1923529	NM_014159.7(SETD2):c.7049C>A (p.Ala2350Glu)	SETD2 (A2306E +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GBenign
Select item 936663	NM_014159.7(SETD2):c.7048G>T (p.Ala2350Ser)	SETD2 (A2306S +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 659482	NM_014159.7(SETD2):c.7048G>A (p.Ala2350Thr)	SETD2 (A2306T +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GBenign
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 1310945	NM_014159.7(SETD2):c.7030G>T (p.Val2344Leu)	SETD2 (V2300L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3039969	NM_014159.7(SETD2):c.7028G>A (p.Gly2343Glu)	SETD2 (G2299E +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related disorder	GUncertain significance
Select item 1712821	NM_014159.7(SETD2):c.7021C>T (p.Pro2341Ser)	SETD2 (P2297S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 644892	NM_014159.7(SETD2):c.6999_7007del (p.Gln2334_Ile2336del)	SETD2	Deletion (non-coding transcript variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 2429924	NM_014159.7(SETD2):c.7004A>G (p.Gln2335Arg)	SETD2 (Q2291R +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 1695570	NM_014159.7(SETD2):c.7001A>G (p.Gln2334Arg)	SETD2 (Q2290R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1116811	NM_014159.7(SETD2):c.6999G>A (p.Gly2333=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 946585	NM_014159.7(SETD2):c.6982C>G (p.Leu2328Val)	SETD2 (L2328V +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 1350594	NM_014159.7(SETD2):c.6981T>A (p.Ser2327Arg)	SETD2 (S2327R +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 963525	NM_014159.7(SETD2):c.6979A>G (p.Ser2327Gly)	SETD2 (S2283G +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 3363757	NM_014159.7(SETD2):c.6975G>C (p.Gln2325His)	SETD2 (Q2281H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 717583	NM_014159.7(SETD2):c.6970G>T (p.Ala2324Ser)	SETD2 (A2280S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1157998	NM_014159.7(SETD2):c.6969T>C (p.Tyr2323=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 3343436	NM_014159.7(SETD2):c.6968A>T (p.Tyr2323Phe)	SETD2 (Y2279F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 753215	NM_014159.7(SETD2):c.6964-9A>G	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 1548452	NM_014159.7(SETD2):c.6964-19T>G	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome	GLikely benign
Select item 1237586	NM_014159.7(SETD2):c.6964-283T>G	SETD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1595660	NM_014159.7(SETD2):c.6963+20_6963+21del	SETD2	Deletion (intron variant)	Luscan-Lumish syndrome	GLikely benign

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