ClinVar for Gene (Select 6853) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3054210	NM_006950.3(SYN1):c.1707C>T (p.Val569=)	SYN1	Single nucleotide variant (synonymous variant)	SYN1-related condition	GLikely benign
Select item 3044389	NM_006950.3(SYN1):c.1930G>A (p.Val644Met)	SYN1 (V644M)	Single nucleotide variant (missense variant)	SYN1-related condition	GUncertain significance
Select item 3044032	NM_006950.3(SYN1):c.306C>T (p.Gly102=)	SYN1	Single nucleotide variant (synonymous variant)	SYN1-related condition	GLikely benign
Select item 3022716	NM_006950.3(SYN1):c.837+15G>A	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 3019012	NM_006950.3(SYN1):c.1389A>G (p.Pro463=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 3012616	NM_006950.3(SYN1):c.1554C>T (p.Pro518=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 3012614	NM_006950.3(SYN1):c.1557G>A (p.Ala519=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 3011534	NM_006950.3(SYN1):c.98C>A (p.Pro33Gln)	SYN1 (P33Q)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3010198	NM_006950.3(SYN1):c.1982+8_1982+20delinsT	SYN1	Indel (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 3008254	NM_006950.3(SYN1):c.925G>A (p.Asp309Asn)	SYN1 (D309N)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3006327	NM_006950.3(SYN1):c.301G>T (p.Gly101Cys)	SYN1 (G101C)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3003888	NM_006950.3(SYN1):c.1228G>T (p.Val410Leu)	SYN1 (V410L)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2987640	NM_006950.3(SYN1):c.381A>G (p.Ala127=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2980657	NM_006950.3(SYN1):c.1821G>T (p.Ala607=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GBenign
Select item 2979752	NM_006950.3(SYN1):c.952A>C (p.Lys318Gln)	SYN1 (K318Q)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2978934	NM_006950.3(SYN1):c.1134G>A (p.Lys378=)	SYN1	Single nucleotide variant (synonymous variant)	SYN1-related condition +1 more	GLikely benign
Select item 2974172	NM_006950.3(SYN1):c.1055+11C>T	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2967567	NM_006950.3(SYN1):c.873C>T (p.Ile291=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2965766	NM_006950.3(SYN1):c.1439C>T (p.Pro480Leu)	SYN1 (P480L)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2954689	NM_006950.3(SYN1):c.1326G>A (p.Leu442=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2919071	NM_006950.3(SYN1):c.1715C>A (p.Pro572Gln)	SYN1 (P572Q)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2911032	NM_006950.3(SYN1):c.684+17G>T	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2904593	NM_006950.3(SYN1):c.1158+16G>A	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2904077	NM_006950.3(SYN1):c.1330T>G (p.Leu444Val)	SYN1 (L444V)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2902261	NM_006950.3(SYN1):c.1905G>T (p.Gln635His)	SYN1 (Q635H)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2891074	NM_006950.3(SYN1):c.54A>G (p.Pro18=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2885701	NM_006950.3(SYN1):c.910G>A (p.Ala304Thr)	SYN1 (A304T)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2883733	NM_006950.3(SYN1):c.775-3C>T	LOC121627969, SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2881495	NM_006950.3(SYN1):c.338C>G (p.Ser113Cys)	SYN1 (S113C)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2878805	NM_006950.3(SYN1):c.1966C>T (p.Pro656Ser)	SYN1 (P656S)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2875129	NM_006950.3(SYN1):c.1791A>G (p.Pro597=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2870080	NM_006950.3(SYN1):c.1269G>T (p.Gln423His)	SYN1 (Q423H)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2869451	NM_006950.3(SYN1):c.132C>T (p.Pro44=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2867233	NM_006950.3(SYN1):c.1398C>T (p.Gly466=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2866131	NM_006950.3(SYN1):c.684+16G>A	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2865495	NM_006950.3(SYN1):c.141G>T (p.Gly47=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2861713	NM_006950.3(SYN1):c.1947C>A (p.Thr649=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2857697	NM_006950.3(SYN1):c.377+6C>A	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2850328	NM_006950.3(SYN1):c.1538C>T (p.Ser513Leu)	SYN1 (S513L)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2849297	NM_006950.3(SYN1):c.1208_1211del (p.Lys403fs)	SYN1 (K403fs)	Deletion (frameshift variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2849255	NM_006950.3(SYN1):c.1589G>A (p.Gly530Asp)	SYN1 (G530D)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2842932	NM_006950.3(SYN1):c.1822G>T (p.Gly608Cys)	SYN1 (G608C)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2834690	NM_006950.3(SYN1):c.1594C>T (p.Gln532Ter)	SYN1 (Q532*)	Single nucleotide variant (nonsense)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2827277	NM_006950.3(SYN1):c.42G>C (p.Met14Ile)	SYN1 (M14I)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2827079	NM_006950.3(SYN1):c.1158+15G>T	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2822546	NM_006950.3(SYN1):c.1287del (p.Arg430fs)	SYN1 (R430fs)	Deletion (frameshift variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2818980	NM_006950.3(SYN1):c.945T>C (p.Arg315=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2817280	NM_006950.3(SYN1):c.837+19T>C	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2816515	NM_006950.3(SYN1):c.1158+1G>T	SYN1	Single nucleotide variant (splice donor variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely pathogenic
Select item 2815257	NM_006950.3(SYN1):c.1215C>A (p.Leu405=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2814123	NM_006950.3(SYN1):c.378-16T>C	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2798759	NM_006950.3(SYN1):c.1149C>T (p.His383=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2797174	NM_006950.3(SYN1):c.548T>C (p.Val183Ala)	SYN1 (V183A)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2792784	NM_006950.3(SYN1):c.144C>G (p.Thr48=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GBenign
Select item 2788305	NM_006950.3(SYN1):c.378-14T>C	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2787827	NM_006950.3(SYN1):c.1513C>T (p.Pro505Ser)	SYN1 (P505S)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2784833	NM_006950.3(SYN1):c.1025C>A (p.Ala342Glu)	SYN1 (A342E)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2782551	NM_006950.3(SYN1):c.1306-18T>C	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2772180	NM_006950.3(SYN1):c.1864C>T (p.Arg622Trp)	SYN1 (R622W)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2770595	NM_006950.3(SYN1):c.84G>A (p.Pro28=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2769248	NM_006950.3(SYN1):c.1371T>C (p.Ala457=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2767814	NM_006950.3(SYN1):c.441A>G (p.Glu147=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2766607	NM_006950.3(SYN1):c.98_114del (p.Pro33fs)	SYN1 (P33fs)	Deletion (frameshift variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2747489	NM_006950.3(SYN1):c.553A>G (p.Ile185Val)	SYN1 (I185V)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2743208	NM_006950.3(SYN1):c.1614A>T (p.Gly538=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2734147	NM_006950.3(SYN1):c.1646C>T (p.Pro549Leu)	SYN1 (P549L)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2732894	NM_006950.3(SYN1):c.1055+9C>T	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2729768	NM_006950.3(SYN1):c.1056-20C>T	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2729185	NM_006950.3(SYN1):c.1374G>A (p.Gln458=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2727663	NM_006950.3(SYN1):c.1306-6C>T	SYN1	Single nucleotide variant (intron variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2723503	NM_006950.3(SYN1):c.1525C>T (p.Pro509Ser)	SYN1 (P509S)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2721534	NM_006950.3(SYN1):c.1435C>A (p.Pro479Thr)	SYN1 (P479T)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2721136	NM_006950.3(SYN1):c.117C>T (p.Ser39=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2714242	NM_006950.3(SYN1):c.1655del (p.Pro552fs)	SYN1 (P552fs)	Deletion (frameshift variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2709115	NM_006950.3(SYN1):c.1236C>T (p.Asn412=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2709035	NM_006950.3(SYN1):c.1176G>A (p.Met392Ile)	SYN1 (M392I)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2708148	NM_006950.3(SYN1):c.462G>C (p.Val154=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2702701	NM_006950.3(SYN1):c.1077G>A (p.Thr359=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2702398	NM_006950.3(SYN1):c.1202A>T (p.Glu401Val)	SYN1 (E401V)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2695374	NM_006950.3(SYN1):c.789G>C (p.Thr263=)	LOC121627969, SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GLikely benign
Select item 2694635	NM_006950.3(SYN1):c.57_63del (p.Asn19fs)	SYN1 (N19fs)	Deletion (frameshift variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2690175	NM_006950.3(SYN1):c.337T>G (p.Ser113Ala)	SYN1 (S113A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684979	GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3	ARAF, CDK16 +33 more	Copy number gain	not provided	GUncertain significance
Select item 2682591	NM_006950.3(SYN1):c.1398C>G (p.Gly466=)	SYN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2665059	NM_006950.3(SYN1):c.1158+8C>T	SYN1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 50 +1 more	GUncertain significance
Select item 2662200	NM_006950.3(SYN1):c.1813A>C (p.Ser605Arg)	SYN1 (S605R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662098	NM_006950.3(SYN1):c.250G>A (p.Val84Ile)	SYN1 (V84I)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GUncertain significance
Select item 2660432	NM_006950.3(SYN1):c.213G>C (p.Ser71=)	SYN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660431	NM_006950.3(SYN1):c.497A>G (p.Glu166Gly)	SYN1 (E166G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660430	NM_003254.3(TIMP1):c.195G>T (p.Met65Ile)	SYN1, TIMP1 (M65I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660429	NM_006950.3(SYN1):c.981-7C>G	SYN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2660428	NM_006950.3(SYN1):c.2030C>T (p.Pro677Leu)	SYN1 (P677L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2631703	NM_006950.3(SYN1):c.694A>T (p.Met232Leu)	SYN1 (M232L)	Single nucleotide variant (missense variant)	SYN1-related condition	GUncertain significance
Select item 2630951	NM_006950.3(SYN1):c.41T>C (p.Met14Thr)	SYN1 (M14T)	Single nucleotide variant (missense variant)	SYN1-related condition	GUncertain significance
Select item 2606834	NM_006950.3(SYN1):c.1721C>T (p.Pro574Leu)	SYN1 (P574L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581698	NM_006950.3(SYN1):c.1925A>G (p.Gln642Arg)	SYN1 (Q642R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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