ULK2[gene] - ClinVar - NCBI

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	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 154666	GRCh38/hg38 17p11.2(chr17:19744033-21598663)x3	AKAP10, ALDH3A1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 2621958	NM_014683.4(ULK2):c.3100G>A (p.Ala1034Thr)	ULK2 (A1034T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330931	NM_014683.4(ULK2):c.3095G>C (p.Ser1032Thr)	ULK2 (S1032T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353208	NM_014683.4(ULK2):c.3080C>T (p.Ser1027Leu)	ULK2 (S1027L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330926	NM_014683.4(ULK2):c.3038A>C (p.Glu1013Ala)	ULK2 (E1013A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600257	NM_014683.4(ULK2):c.2953A>G (p.Thr985Ala)	ULK2 (T985A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186355	NM_014683.4(ULK2):c.2924C>G (p.Ser975Cys)	ULK2 (S975C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325496	NM_014683.4(ULK2):c.2888A>G (p.Lys963Arg)	ULK2 (K963R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186354	NM_014683.4(ULK2):c.2860G>T (p.Asp954Tyr)	ULK2 (D954Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186352	NM_014683.4(ULK2):c.2840C>T (p.Ser947Phe)	ULK2 (S947F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340512	NM_014683.4(ULK2):c.2719A>G (p.Lys907Glu)	ULK2 (K907E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186351	NM_014683.4(ULK2):c.2710G>A (p.Ala904Thr)	ULK2 (A904T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472554	NM_014683.4(ULK2):c.2683C>A (p.Leu895Ile)	ULK2 (L895I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718298	NM_014683.4(ULK2):c.2642G>A (p.Arg881Gln)	ULK2 (R881Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3186350	NM_014683.4(ULK2):c.2635T>G (p.Trp879Gly)	ULK2 (W879G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243766	NM_014683.4(ULK2):c.2512G>A (p.Glu838Lys)	ULK2 (E838K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547703	NM_014683.4(ULK2):c.2416A>G (p.Ile806Val)	ULK2 (I806V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242934	NM_014683.4(ULK2):c.2399C>T (p.Pro800Leu)	ULK2 (P800L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777152	NM_014683.4(ULK2):c.2385C>T (p.Tyr795=)	ULK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2647564	NM_014683.4(ULK2):c.2340C>T (p.Ser780=)	ULK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3186349	NM_014683.4(ULK2):c.2315C>T (p.Pro772Leu)	ULK2 (P772L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403038	NM_014683.4(ULK2):c.2299G>A (p.Val767Met)	ULK2 (V767M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186348	NM_014683.4(ULK2):c.2155A>T (p.Ser719Cys)	ULK2 (S719C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237600	NM_014683.4(ULK2):c.2119G>A (p.Gly707Ser)	ULK2 (G707S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606317	NM_014683.4(ULK2):c.2087G>A (p.Arg696Gln)	ULK2 (R696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293725	NM_014683.4(ULK2):c.2081C>G (p.Thr694Arg)	ULK2 (T694R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330927	NM_014683.4(ULK2):c.2044A>G (p.Ile682Val)	ULK2 (I682V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647565	NM_014683.4(ULK2):c.2028A>G (p.Gln676=)	ULK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373047	NM_014683.4(ULK2):c.1969G>A (p.Glu657Lys)	ULK2 (E657K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186347	NM_014683.4(ULK2):c.1964G>A (p.Arg655Gln)	ULK2 (R655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330930	NM_014683.4(ULK2):c.1954G>A (p.Glu652Lys)	ULK2 (E652K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310111	NM_014683.4(ULK2):c.1937T>G (p.Leu646Arg)	ULK2 (L646R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296274	NM_014683.4(ULK2):c.1898C>T (p.Ser633Leu)	ULK2 (S633L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594080	NM_014683.4(ULK2):c.1854C>A (p.Asn618Lys)	ULK2 (N618K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402174	NM_014683.4(ULK2):c.1733A>G (p.His578Arg)	ULK2 (H578R)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 3186345	NM_014683.4(ULK2):c.1700G>A (p.Arg567Gln)	ULK2 (R567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275608	NM_014683.4(ULK2):c.1679G>A (p.Ser560Asn)	ULK2 (S560N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711185	NM_014683.4(ULK2):c.1668G>A (p.Gly556=)	ULK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728214	NM_014683.4(ULK2):c.1617G>A (p.Lys539=)	ULK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2207222	NM_014683.4(ULK2):c.1565C>T (p.Ser522Leu)	ULK2 (S522L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3330932	NM_014683.4(ULK2):c.1436C>T (p.Pro479Leu)	ULK2 (P479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549293	NM_014683.4(ULK2):c.1424A>T (p.Tyr475Phe)	ULK2 (Y475F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234261	NM_014683.4(ULK2):c.1394G>A (p.Arg465Gln)	ULK2 (R465Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186344	NM_014683.4(ULK2):c.1346C>T (p.Pro449Leu)	ULK2 (P449L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603175	NM_014683.4(ULK2):c.1345C>T (p.Pro449Ser)	ULK2 (P449S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330928	NM_014683.4(ULK2):c.1321A>T (p.Thr441Ser)	ULK2 (T441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239654	NM_014683.4(ULK2):c.1276A>G (p.Asn426Asp)	ULK2 (N426D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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