2314[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 150743	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58110	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 58113	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	LOC130060442, LOC130060443 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	MYO15A, NT5M +252 more	Copy number gain	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 152261	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 148912	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	AKAP10, ALDH3A1 +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	LOC130060419, LOC130060420 +248 more	Copy number gain	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 146755	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	LOC130060406, LOC130060407 +248 more	Copy number gain	See cases	GPathogenic
Select item 154919	GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1	MIR6778, MPRIP +158 more	Copy number loss	See cases	GPathogenic
Select item 147821	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 147756	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146492	GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1	ALKBH5, ATPAF2 +141 more	Copy number loss	See cases	GPathogenic
Select item 58127	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 60437	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	AKAP10, ALDH3A1 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	AKAP10, ALDH3A1 +250 more	Copy number gain	See cases	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	FAM106A, FAM106B +248 more	Duplication	Autism	GPathogenic
Select item 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 60455	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 58132	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 58131	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	AKAP10, ALDH3A1 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	AKAP10, ALDH3A1 +244 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 150319	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 149203	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 145065	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	LOC130060411, LOC130060412 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	AKAP10, ALDH3A1 +245 more	Copy number loss	See cases	GPathogenic
Select item 60456	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	SLC5A10, SMCR2 +242 more	Copy number gain	See cases	GPathogenic
Select item 57224	GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3	ALKBH5, ATPAF2 +161 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 57034	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 146753	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 58134	GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	AKAP10, ALDH3A1 +241 more	Copy number gain	See cases	GPathogenic
Select item 150379	GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	AKAP10, ALDH3A1 +226 more	Copy number loss	See cases	GPathogenic
Select item 152568	GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	AKAP10, ALDH3A1 +220 more	Copy number loss	See cases	GPathogenic
Select item 153282	GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1	LOC130060377, LOC130060378 +143 more	Copy number loss	See cases	GPathogenic
Select item 60458	GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1	LOC125177431, LOC125177432 +117 more	Copy number loss	See cases	GPathogenic
Select item 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 58694	GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3	ALKBH5, ATPAF2 +67 more	Copy number gain	See cases	GPathogenic
Select item 150383	GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3	ALKBH5, ATPAF2 +70 more	Copy number gain	See cases	GLikely benign
Select item 146600	GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1	ALKBH5, ATPAF2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154395	GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3	ALKBH5, DRG2 +30 more	Copy number gain	See cases	GPathogenic
Select item 2231207	NM_002018.4(FLII):c.3793T>C (p.Cys1265Arg)	FLII (C1265R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 764882	NM_002018.4(FLII):c.3786C>T (p.Ser1262=)	FLII	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 623447	NM_002018.4(FLII):c.3772T>C (p.Phe1258Leu)	FLII (F1203L +2 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 1699194	NM_002018.4(FLII):c.3718C>T (p.Arg1240Cys)	FLII (R1185C +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2647547	NM_002018.4(FLII):c.3713G>A (p.Arg1238Gln)	FLII (R1183Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2209473	NM_002018.4(FLII):c.3712C>T (p.Arg1238Trp)	FLII (R1227W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778682	NM_002018.4(FLII):c.3594A>T (p.Leu1198=)	FLII	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558518	NM_002018.4(FLII):c.3516G>C (p.Glu1172Asp)	FLII (E1161D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717787	NM_002018.4(FLII):c.3513C>T (p.Asn1171=)	FLII	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663897	NM_002018.4(FLII):c.3502C>T (p.Arg1168Trp)	FLII (R1113W +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2j	GPathogenic
Select item 778683	NM_002018.4(FLII):c.3468C>T (p.Asp1156=)	FLII	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3026840	NM_002018.4(FLII):c.3448G>T (p.Ala1150Ser)	FLII (A1095S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2551988	NM_002018.4(FLII):c.3409G>A (p.Gly1137Ser)	FLII (G1137S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738374	NM_002018.4(FLII):c.3336C>T (p.Asp1112=)	FLII	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3095650	NM_002018.4(FLII):c.3319C>T (p.Arg1107Trp)	FLII (R1052W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348556	NM_002018.4(FLII):c.3279G>C (p.Glu1093Asp)	FLII (E1082D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552566	NM_002018.4(FLII):c.3247G>C (p.Glu1083Gln)	FLII (E1072Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280721	NM_002018.4(FLII):c.3236T>G (p.Leu1079Arg)	FLII (L1079R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095649	NM_002018.4(FLII):c.3179G>A (p.Arg1060His)	FLII (R1005H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211529	NM_002018.4(FLII):c.3178C>T (p.Arg1060Cys)	FLII (R1049C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485693	NM_002018.4(FLII):c.3170A>T (p.Tyr1057Phe)	FLII (Y1002F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095648	NM_002018.4(FLII):c.3151G>A (p.Ala1051Thr)	FLII (A1040T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 764418	NM_002018.4(FLII):c.3141G>A (p.Ala1047=)	FLII	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2408304	NM_002018.4(FLII):c.3118A>G (p.Ile1040Val)	FLII (I1029V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281770	NM_002018.4(FLII):c.3073C>G (p.Gln1025Glu)	FLII (Q1014E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407494	NM_002018.4(FLII):c.3058C>T (p.Arg1020Cys)	FLII (R965C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315165	NM_002018.4(FLII):c.2927C>T (p.Pro976Leu)	FLII (P965L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306782	NM_002018.4(FLII):c.2873A>C (p.Lys958Thr)	FLII (K958T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 777137	NM_002018.4(FLII):c.2866GAG[1] (p.Glu957del)	FLII (E902del +2 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2618763	NM_002018.4(FLII):c.2866G>A (p.Glu956Lys)	FLII (E901K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783774	NM_002018.4(FLII):c.2817-6C>T	FLII	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787446	NM_002018.4(FLII):c.2816+3A>G	FLII	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 760918	NM_002018.4(FLII):c.2802C>T (p.Tyr934=)	FLII	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 816800	NM_002018.4(FLII):c.2755C>T (p.Arg919Trp)	FLII (R864W +2 more)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 2260297	NM_002018.4(FLII):c.2753C>A (p.Ala918Glu)	FLII (A863E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709679	NM_002018.4(FLII):c.2676+9A>G	FLII	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3095646	NM_002018.4(FLII):c.2663T>C (p.Met888Thr)	FLII (M833T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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