91647[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	ADORA2B, ALKBH5 +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	LOC130060373, LOC130060374 +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	ADORA2B, AKAP10 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	ADORA2B, ALKBH5 +217 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	LOC130060409, LOC130060410 +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	AKAP10, ALDH3A1 +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	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	AKAP10, ALDH3A1 +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	LOC130060441, LOC130060442 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	SNORD3B-2, SNORD3C +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	AKAP10, ALDH3A1 +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	LOC132090457, LOC132090458 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 154919	GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1	ALKBH5, ATPAF2 +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	LOC130060388, LOC130060389 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	FLII, FOXO3B +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	LOC130060437, LOC130060438 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	LOC130060452, LOC130060453 +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	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	LOC130060350, LOC130060351 +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	LOC130060452, LOC130060453 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	AKAP10, ALDH3A1 +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	LOC130060362, LOC130060363 +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	ALKBH5, ATPAF2 +143 more	Copy number loss	See cases	GPathogenic
Select item 60458	GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1	ALKBH5, ATPAF2 +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 2647537	NM_031294.4(DRC3):c.1363G>A (p.Gly455Arg)	ATPAF2, DRC3 (G455R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2295109	NM_031294.4(DRC3):c.1424G>T (p.Arg475Ile)	ATPAF2, DRC3 (R475I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300154	NM_031294.4(DRC3):c.1467G>C (p.Lys489Asn)	ATPAF2, DRC3 (K489N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346510	NM_031294.4(DRC3):c.1492C>T (p.Arg498Cys)	DRC3, ATPAF2 (R498C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462168	NM_031294.4(DRC3):c.1519G>A (p.Asp507Asn)	ATPAF2, DRC3 (D507N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 891000	NM_145691.4(ATPAF2):c.*526C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 891001	NM_145691.4(ATPAF2):c.*485G>A	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322088	NM_145691.4(ATPAF2):c.*456T>C	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GBenign
Select item 322089	NM_145691.4(ATPAF2):c.*378A>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322090	NM_145691.4(ATPAF2):c.*337T>C	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 892222	NM_145691.4(ATPAF2):c.*250C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322091	NM_145691.4(ATPAF2):c.*194C>A	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322092	NM_145691.4(ATPAF2):c.*165C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 +1 more	GBenign
Select item 892223	NM_145691.4(ATPAF2):c.*138G>A	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 892224	NM_145691.4(ATPAF2):c.*137C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322093	NM_145691.4(ATPAF2):c.*132C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322094	NM_145691.4(ATPAF2):c.*130T>C	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GBenign
Select item 888801	NM_145691.4(ATPAF2):c.*108C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 888802	NM_145691.4(ATPAF2):c.*54C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 888803	NM_145691.4(ATPAF2):c.*26G>C	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 214134	NM_145691.4(ATPAF2):c.*20C>G	ATPAF2	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 813704	NM_145691.4(ATPAF2):c.868T>C (p.Ter290Arg)	ATPAF2	Single nucleotide variant (stop lost)	Microcephaly	GUncertain significance
Select item 2307095	NM_145691.4(ATPAF2):c.863A>G (p.Lys288Arg)	ATPAF2 (K288R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1959697	NM_145691.4(ATPAF2):c.855G>T (p.Lys285Asn)	ATPAF2 (K285N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899817	NM_145691.4(ATPAF2):c.842_843del (p.Thr281fs)	ATPAF2 (T281fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2177967	NM_145691.4(ATPAF2):c.832G>A (p.Glu278Lys)	ATPAF2 (E278K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186651	NM_145691.4(ATPAF2):c.831C>T (p.Ser277=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511674	NM_145691.4(ATPAF2):c.821A>G (p.His274Arg)	ATPAF2 (H274R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747244	NM_145691.4(ATPAF2):c.805G>A (p.Gly269Ser)	ATPAF2 (G269S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2969404	NM_145691.4(ATPAF2):c.804C>T (p.Ala268=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214138	NM_145691.4(ATPAF2):c.802G>A (p.Ala268Thr)	ATPAF2 (A268T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2417980	NM_145691.4(ATPAF2):c.799G>A (p.Ala267Thr)	ATPAF2 (A267T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1449714	NM_145691.4(ATPAF2):c.794G>A (p.Arg265His)	ATPAF2 (R265H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702791	NM_145691.4(ATPAF2):c.793C>T (p.Arg265Cys)	ATPAF2 (R265C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704731	NM_145691.4(ATPAF2):c.790G>A (p.Ala264Thr)	ATPAF2 (A264T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214137	NM_145691.4(ATPAF2):c.785T>C (p.Leu262Pro)	ATPAF2 (L262P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523905	NM_145691.4(ATPAF2):c.778C>T (p.Gln260Ter)	ATPAF2 (Q260*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 136468	NM_145691.4(ATPAF2):c.738G>A (p.Gln246=)	ATPAF2	Single nucleotide variant (synonymous variant)	ATPAF2-related condition +3 more	GBenign

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