RAI1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
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	DRC3, LOC130060351 +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 155450	GRCh38/hg38 17p11.2(chr17:17588462-17696894)x3	LOC125177430, LOC130060384 +7 more	Copy number gain	See cases	GUncertain significance
Select item 148868	GRCh38/hg38 17p11.2(chr17:17606582-17696536)x3	LOC125177430, LOC130060384 +6 more	Copy number gain	See cases	GUncertain significance
Select item 58694	GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3	ALKBH5, ATPAF2 +67 more	Copy number gain	See cases	GPathogenic
Select item 1321231	NM_030665.4(RAI1):c.-148-13952_-148-10583del	LOC112529899, LOC130060389 +1 more	Deletion (intron variant)	Smith-Magenis syndrome	GPathogenic
Select item 3358587	NM_030665.4(RAI1):c.-148-61C>T	RAI1	Single nucleotide variant (intron variant)	RAI1-related disorder	GLikely benign
Select item 3357751	NM_030665.4(RAI1):c.-148-56C>T	RAI1	Single nucleotide variant (intron variant)	RAI1-related disorder	GLikely benign
Select item 3358284	NM_030665.4(RAI1):c.-148-24G>C	RAI1	Single nucleotide variant (intron variant)	RAI1-related disorder	GLikely benign
Select item 3352790	NM_030665.4(RAI1):c.-148-22G>A	RAI1	Single nucleotide variant (intron variant)	RAI1-related disorder	GLikely benign
Select item 3354485	NM_030665.4(RAI1):c.-148-7T>C	RAI1	Single nucleotide variant (intron variant)	RAI1-related disorder	GLikely benign
Select item 3357338	NM_030665.4(RAI1):c.-148G>T	RAI1	Single nucleotide variant (5 prime UTR variant)	RAI1-related disorder	GUncertain significance
Select item 3358818	NM_030665.4(RAI1):c.-134A>G	RAI1	Single nucleotide variant (5 prime UTR variant)	RAI1-related disorder	GLikely benign
Select item 3351749	NM_030665.4(RAI1):c.-132C>T	RAI1	Single nucleotide variant (5 prime UTR variant)	RAI1-related disorder	GLikely benign
Select item 1345005	NM_030665.4(RAI1):c.-50G>A	RAI1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1342813	NM_030665.4(RAI1):c.-17+74G>T	RAI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 59584	GRCh38/hg38 17p11.2(chr17:17726750-17797183)x1	LOC121587578, LOC125177432 +9 more	Copy number loss	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 1261147	NM_030665.4(RAI1):c.-16-1486G>A	RAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3351198	NM_030665.4(RAI1):c.-5G>C	RAI1	Single nucleotide variant (5 prime UTR variant)	RAI1-related disorder	GLikely benign
Select item 1803408	NM_030665.4(RAI1):c.-4A>T	RAI1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3355929	NM_030665.4(RAI1):c.-3G>A	RAI1	Single nucleotide variant (5 prime UTR variant)	RAI1-related disorder	GLikely benign
Select item 1377204	NM_030665.4(RAI1):c.5A>G (p.Gln2Arg)	RAI1 (Q2R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2743788	NM_030665.4(RAI1):c.7T>G (p.Ser3Ala)	RAI1 (S3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436485	NM_030665.4(RAI1):c.12T>C (p.Phe4=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1679394	NM_030665.4(RAI1):c.13C>T (p.Arg5Ter)	RAI1 (R5*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GLikely pathogenic
Select item 2540763	NM_030665.4(RAI1):c.14G>A (p.Arg5Gln)	RAI1 (R5Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1649158	NM_030665.4(RAI1):c.15A>C (p.Arg5=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571303	NM_030665.4(RAI1):c.15A>G (p.Arg5=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816799	NM_030665.4(RAI1):c.21G>A (p.Arg7=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1460665	NM_030665.4(RAI1):c.23G>A (p.Cys8Tyr)	RAI1 (C8Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499006	NM_030665.4(RAI1):c.31C>T (p.His11Tyr)	RAI1 (H11Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769744	NM_030665.4(RAI1):c.34G>T (p.Gly12Cys)	RAI1 (G12C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525400	NM_030665.4(RAI1):c.35G>A (p.Gly12Asp)	RAI1 (G12D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1710652	NM_030665.4(RAI1):c.36C>T (p.Gly12=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3344972	NM_030665.4(RAI1):c.42A>G (p.Gln14=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder	GLikely benign
Select item 1700394	NM_030665.4(RAI1):c.62C>T (p.Ser21Leu)	RAI1 (S21L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868682	NM_030665.4(RAI1):c.63G>T (p.Ser21=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645063	NM_030665.4(RAI1):c.63G>A (p.Ser21=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2054101	NM_030665.4(RAI1):c.64C>A (p.Gln22Lys)	RAI1 (Q22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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