25588[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 147

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 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 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 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 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 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 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 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 60134	GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3	AKAP10, ALDH3A1 +91 more	Copy number gain	See cases	GUncertain significance
Select item 31103	NC_000017.11:g.(?_18856298)_(20402192_?)del	AKAP10, ALDH3A1 +87 more	Deletion	Meckel syndrome, type 9	GPathogenic
Select item 148929	GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 144242	GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GPathogenic
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 153249	GRCh38/hg38 17p11.2(chr17:19533508-19751472)x1	ALDH3A1, ALDH3A2 +8 more	Copy number loss	See cases	GLikely benign
Select item 3319898	NM_018242.3(SLC47A1):c.62G>A (p.Arg21His)	SLC47A1 (R21H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2304252	NM_018242.3(SLC47A1):c.71G>T (p.Arg24Leu)	SLC47A1 (R24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412571	NM_018242.3(SLC47A1):c.97G>A (p.Glu33Lys)	SLC47A1 (E33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784668	NM_018242.3(SLC47A1):c.270C>T (p.Phe90=)	SLC47A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3164948	NM_018242.3(SLC47A1):c.271G>A (p.Gly91Ser)	SLC47A1 (G91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508489	NM_018242.3(SLC47A1):c.340G>A (p.Val114Met)	SLC47A1 (V114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228875	NM_018242.3(SLC47A1):c.359C>T (p.Ala120Val)	SLC47A1 (A120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164949	NM_018242.3(SLC47A1):c.370C>T (p.Leu124Phe)	SLC47A1 (L124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164950	NM_018242.3(SLC47A1):c.452C>T (p.Ser151Phe)	SLC47A1 (S151F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334381	NM_018242.3(SLC47A1):c.557C>T (p.Pro186Leu)	SLC47A1 (P186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248603	NM_018242.3(SLC47A1):c.585C>A (p.Asn195Lys)	SLC47A1 (N195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723519	NM_018242.3(SLC47A1):c.621T>C (p.His207=)	SLC47A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2220357	NM_018242.3(SLC47A1):c.662T>C (p.Leu221Ser)	SLC47A1 (L221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727140	NM_018242.3(SLC47A1):c.765C>T (p.Asp255=)	SLC47A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2398656	NM_018242.3(SLC47A1):c.806T>C (p.Met269Thr)	SLC47A1 (M269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459216	NM_018242.3(SLC47A1):c.827C>T (p.Ala276Val)	SLC47A1 (A276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306222	NM_018242.3(SLC47A1):c.854G>T (p.Gly285Val)	SLC47A1 (G285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525394	NM_018242.3(SLC47A1):c.872A>T (p.Glu291Val)	SLC47A1 (E291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164951	NM_018242.3(SLC47A1):c.877G>A (p.Gly293Ser)	SLC47A1 (G293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488982	NM_018242.3(SLC47A1):c.889A>G (p.Ile297Val)	SLC47A1 (I297V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372935	NM_018242.3(SLC47A1):c.919A>G (p.Met307Val)	SLC47A1 (M307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275097	NM_018242.3(SLC47A1):c.934T>G (p.Phe312Val)	SLC47A1 (F312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364688	NM_018242.3(SLC47A1):c.955C>T (p.Arg319Trp)	SLC47A1 (R319W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371360	NM_018242.3(SLC47A1):c.989A>T (p.Glu330Val)	SLC47A1 (E330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353095	NM_018242.3(SLC47A1):c.997C>T (p.Arg333Trp)	SLC47A1 (R333W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513937	NM_018242.3(SLC47A1):c.1081G>A (p.Val361Met)	SLC47A1 (V361M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599850	NM_018242.3(SLC47A1):c.1255G>T (p.Val419Phe)	SLC47A1 (V419F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533679	NM_018242.3(SLC47A1):c.1280T>G (p.Leu427Arg)	SLC47A1 (L427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351065	NM_018242.3(SLC47A1):c.1462C>T (p.Leu488Phe)	SLC47A1 (L488F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784669	NM_018242.3(SLC47A1):c.1490G>T (p.Cys497Phe)	SLC47A1 (C497F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2454786	NM_018242.3(SLC47A1):c.1517C>T (p.Thr506Met)	SLC47A1 (T506M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598044	NM_018242.3(SLC47A1):c.1633C>T (p.Arg545Trp)	SLC47A1 (R545W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470595	NM_018242.3(SLC47A1):c.1634G>A (p.Arg545Gln)	SLC47A1 (R545Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545426	NM_018242.3(SLC47A1):c.1640G>C (p.Gly547Ala)	SLC47A1 (G547A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350391	NM_018242.3(SLC47A1):c.1655G>A (p.Gly552Glu)	SLC47A1 (G552E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263616	NM_018242.3(SLC47A1):c.1658T>A (p.Val553Asp)	SLC47A1 (V553D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2684839	GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	AKAP10, ALDH3A1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	AKAP10, ALDH3A1 +44 more	Copy number loss	not provided	GPathogenic
Select item 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 2422990	NC_000017.10:g.(?_19246632)_(19578885_?)dup	ALDH3A2, B9D1 +4 more	Duplication	not provided	GUncertain significance
Select item 1809101	GRCh37/hg19 17p11.2(chr17:19423469-19588176)x1	ALDH3A2, SLC47A1 +1 more	Copy number loss	not provided	GUncertain significance

<< First< Prev

Page of 2