ClinVar for Gene (Select 9706) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3330931	NM_014683.4(ULK2):c.3095G>C (p.Ser1032Thr)	ULK2 (S1032T)	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 3330928	NM_014683.4(ULK2):c.1321A>T (p.Thr441Ser)	ULK2 (T441S)	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 3330926	NM_014683.4(ULK2):c.3038A>C (p.Glu1013Ala)	ULK2 (E1013A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330925	NM_014683.4(ULK2):c.985C>T (p.Pro329Ser)	ULK2 (P329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186357	NM_014683.4(ULK2):c.992A>G (p.Tyr331Cys)	ULK2 (Y331C)	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 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 3186351	NM_014683.4(ULK2):c.2710G>A (p.Ala904Thr)	ULK2 (A904T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3186349	NM_014683.4(ULK2):c.2315C>T (p.Pro772Leu)	ULK2 (P772L)	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 3186347	NM_014683.4(ULK2):c.1964G>A (p.Arg655Gln)	ULK2 (R655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3186344	NM_014683.4(ULK2):c.1346C>T (p.Pro449Leu)	ULK2 (P449L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186343	NM_014683.4(ULK2):c.1265G>C (p.Ser422Thr)	ULK2 (S422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186341	NM_014683.4(ULK2):c.1175T>C (p.Val392Ala)	ULK2 (V392A)	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 2647565	NM_014683.4(ULK2):c.2028A>G (p.Gln676=)	ULK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647564	NM_014683.4(ULK2):c.2340C>T (p.Ser780=)	ULK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624381	NM_014683.4(ULK2):c.1235G>T (p.Arg412Leu)	ULK2 (R412L)	Single nucleotide variant (missense variant)	not specified	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 2606317	NM_014683.4(ULK2):c.2087G>A (p.Arg696Gln)	ULK2 (R696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2600257	NM_014683.4(ULK2):c.2953A>G (p.Thr985Ala)	ULK2 (T985A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596190	NM_014683.4(ULK2):c.124A>C (p.Asn42His)	ULK2 (N42H)	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 2557496	NM_014683.4(ULK2):c.296C>T (p.Ala99Val)	ULK2 (A99V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2547703	NM_014683.4(ULK2):c.2416A>G (p.Ile806Val)	ULK2 (I806V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544352	NM_014683.4(ULK2):c.1165C>G (p.Gln389Glu)	ULK2 (Q389E)	Single nucleotide variant (missense variant)	not specified	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	LLGL1, MAPK7 +44 more	Copy number loss	not provided	GPathogenic
Select item 2485459	NM_014683.4(ULK2):c.890G>A (p.Gly297Asp)	ULK2 (G297D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479759	NM_014683.4(ULK2):c.1244A>G (p.Gln415Arg)	ULK2 (Q415R)	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 2403038	NM_014683.4(ULK2):c.2299G>A (p.Val767Met)	ULK2 (V767M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395431	NM_014683.4(ULK2):c.431G>A (p.Arg144His)	ULK2 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381428	NM_014683.4(ULK2):c.908G>A (p.Arg303His)	ULK2 (R303H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2353208	NM_014683.4(ULK2):c.3080C>T (p.Ser1027Leu)	ULK2 (S1027L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349949	NM_014683.4(ULK2):c.990C>G (p.Asn330Lys)	ULK2 (N330K)	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 2325496	NM_014683.4(ULK2):c.2888A>G (p.Lys963Arg)	ULK2 (K963R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322730	NM_014683.4(ULK2):c.931C>T (p.Pro311Ser)	ULK2 (P311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318274	NM_014683.4(ULK2):c.970C>G (p.Pro324Ala)	ULK2 (P324A)	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 2293933	NM_014683.4(ULK2):c.179T>C (p.Leu60Ser)	ULK2 (L60S)	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 2291216	NM_014683.4(ULK2):c.699G>A (p.Met233Ile)	ULK2 (M233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278519	NM_014683.4(ULK2):c.320C>T (p.Thr107Met)	ULK2 (T107M)	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 2243819	NM_014683.4(ULK2):c.152T>C (p.Ile51Thr)	ULK2 (I51T)	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 2242934	NM_014683.4(ULK2):c.2399C>T (p.Pro800Leu)	ULK2 (P800L)	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
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 2234261	NM_014683.4(ULK2):c.1394G>A (p.Arg465Gln)	ULK2 (R465Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220246	NM_014683.4(ULK2):c.791C>T (p.Ala264Val)	ULK2 (A264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	ALKBH5, ATPAF2 +48 more	Copy number loss	not provided	GPathogenic
Select item 1340611	GRCh37/hg19 17p11.2(chr17:19559095-19708057)x3	ALDH3A1, ALDH3A2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047866	GRCh37/hg19 17p11.2(chr17:16601603-20063369)	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047863	GRCh37/hg19 17p11.2(chr17:17145361-20137943)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 980119	GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1	ULK2, SLC47A2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 980115	GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 980114	GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3	SMCR8, SNORD3A +47 more	Copy number gain	not provided	GPathogenic
Select item 815916	GRCh37/hg19 17p11.2(chr17:19356083-19917814)x3	SLC47A2, ULK2 +5 more	Copy number gain	not provided	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 728214	NM_014683.4(ULK2):c.1617G>A (p.Lys539=)	ULK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718298	NM_014683.4(ULK2):c.2642G>A (p.Arg881Gln)	ULK2 (R881Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711186	NM_014683.4(ULK2):c.15T>C (p.Gly5=)	ULK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711185	NM_014683.4(ULK2):c.1668G>A (p.Gly556=)	ULK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688255	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	AKAP10, ALDH3A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 564420	GRCh37/hg19 17p11.2(chr17:19724678-20231379)x3	SPECC1, AKAP10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564418	GRCh37/hg19 17p11.2(chr17:18743223-20246715)x3	AKAP10, B9D1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 564413	GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564412	GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564411	GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	not provided	GPathogenic
Select item 564409	GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 564408	GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1	GID4, GRAP +47 more	Copy number loss	not provided	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 523257	GRCh37/hg19 17p11.2(chr17:16842163-20217777)	COPS3, DRC3 +47 more	Copy number gain	Delayed gross motor development +3 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 496743	arr[hg19]17p11.2(16,757,111-20,219,651)x3	MYO15A, NT5M +47 more	Duplication	Potocki-Lupski syndrome	GPathogenic

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