ClinVar for Gene (Select 54993) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 119

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260043	NM_181877.4(ZSCAN2):c.1840T>C (p.Tyr614His)	ZSCAN2 (Y614H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260042	NM_181877.4(ZSCAN2):c.223G>A (p.Gly75Ser)	LOC105370947, ZSCAN2 (G75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260041	NM_181877.4(ZSCAN2):c.321G>C (p.Gln107His)	LOC105370947, ZSCAN2 (Q107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260040	NM_181877.4(ZSCAN2):c.1481G>A (p.Arg494Lys)	ZSCAN2 (R493K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260039	NM_181877.4(ZSCAN2):c.242G>A (p.Arg81Gln)	LOC105370947, ZSCAN2 (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260038	NM_181877.4(ZSCAN2):c.902C>G (p.Thr301Arg)	ZSCAN2 (T300R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260037	NM_181877.4(ZSCAN2):c.1768G>A (p.Glu590Lys)	ZSCAN2 (E589K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199351	NM_181877.4(ZSCAN2):c.832T>G (p.Tyr278Asp)	ZSCAN2 (Y278D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199350	NM_181877.4(ZSCAN2):c.728C>T (p.Thr243Ile)	ZSCAN2 (T243I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199349	NM_181877.4(ZSCAN2):c.586C>T (p.His196Tyr)	ZSCAN2 (H195Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199348	NM_181877.4(ZSCAN2):c.383T>C (p.Leu128Ser)	LOC105370947, ZSCAN2 (L128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199347	NM_181877.4(ZSCAN2):c.236G>A (p.Arg79His)	LOC105370947, ZSCAN2 (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199346	NM_181877.4(ZSCAN2):c.227C>A (p.Ala76Glu)	LOC105370947, ZSCAN2 (A76E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199345	NM_181877.4(ZSCAN2):c.157T>A (p.Ser53Thr)	LOC105370947, ZSCAN2 (S53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199344	NM_181877.4(ZSCAN2):c.1540C>T (p.Arg514Cys)	ZSCAN2 (R513C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199342	NM_181877.4(ZSCAN2):c.137T>C (p.Leu46Pro)	LOC105370947, ZSCAN2 (L46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199341	NM_181877.4(ZSCAN2):c.1232C>G (p.Thr411Ser)	ZSCAN2 (T410S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199340	NM_181877.4(ZSCAN2):c.1138C>T (p.His380Tyr)	ZSCAN2 (H380Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199339	NM_181877.4(ZSCAN2):c.1109G>A (p.Ser370Asn)	ZSCAN2 (S369N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148856	GRCh37/hg19 15q25.2-25.3(chr15:84910816-85790661)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684767	GRCh37/hg19 15q25.2-25.3(chr15:85084471-85724984)x3	ALPK3, NMB +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684766	GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3	ADAMTSL3, ALPK3 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2645648	NM_181877.4(ZSCAN2):c.*1255C>T	ZSCAN2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2645647	NM_181877.4(ZSCAN2):c.587A>C (p.His196Pro)	ZSCAN2 (H195P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622568	NM_181877.4(ZSCAN2):c.106G>A (p.Glu36Lys)	LOC105370947, ZSCAN2 (E36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622476	NM_181877.4(ZSCAN2):c.964A>C (p.Ile322Leu)	ZSCAN2 (I321L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622285	NM_181877.4(ZSCAN2):c.336G>T (p.Glu112Asp)	LOC105370947, ZSCAN2 (E112D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620060	NM_181877.4(ZSCAN2):c.218C>G (p.Pro73Arg)	LOC105370947, ZSCAN2 (P73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618527	NM_181877.4(ZSCAN2):c.48G>C (p.Leu16Phe)	LOC105370947, ZSCAN2 (L16F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2606591	NM_181877.4(ZSCAN2):c.304C>G (p.Leu102Val)	LOC105370947, ZSCAN2 (L102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606590	NM_181877.4(ZSCAN2):c.303G>T (p.Met101Ile)	LOC105370947, ZSCAN2 (M101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590853	NM_181877.4(ZSCAN2):c.1516G>A (p.Glu506Lys)	ZSCAN2 (E506K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589572	NM_181877.4(ZSCAN2):c.623A>G (p.Gln208Arg)	ZSCAN2 (Q207R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2534022	NM_181877.4(ZSCAN2):c.1786A>G (p.Ser596Gly)	ZSCAN2 (S596G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528827	NM_181877.4(ZSCAN2):c.550A>G (p.Ile184Val)	ZSCAN2 (I184V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509554	NM_181877.4(ZSCAN2):c.470G>A (p.Arg157His)	ZSCAN2 (R157H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2506555	GRCh37/hg19 15q25.2-25.3(chr15:84908070-85681134)	ALPK3, NMB +6 more	Copy number loss	WDR73-related disorder	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2483666	NM_181877.4(ZSCAN2):c.20C>T (p.Pro7Leu)	LOC105370947, ZSCAN2 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464692	NM_181877.4(ZSCAN2):c.1621C>T (p.Arg541Trp)	ZSCAN2 (R540W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462570	NM_181877.4(ZSCAN2):c.613G>C (p.Glu205Gln)	ZSCAN2 (E204Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462378	NM_181877.4(ZSCAN2):c.25G>A (p.Val9Met)	LOC105370947, ZSCAN2 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461386	NM_181877.4(ZSCAN2):c.1541G>A (p.Arg514His)	ZSCAN2 (R514H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460718	NM_181877.4(ZSCAN2):c.1597C>T (p.Leu533Phe)	ZSCAN2 (L532F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460094	NM_181877.4(ZSCAN2):c.1217T>C (p.Ile406Thr)	ZSCAN2 (I405T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456092	NM_181877.4(ZSCAN2):c.17T>G (p.Ile6Ser)	LOC105370947, ZSCAN2 (I6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392950	NM_181877.4(ZSCAN2):c.1310G>A (p.Arg437Gln)	ZSCAN2 (R436Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369779	NM_181877.4(ZSCAN2):c.1565G>A (p.Arg522Gln)	ZSCAN2 (R521Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364840	NM_181877.4(ZSCAN2):c.1037G>A (p.Arg346Gln)	ZSCAN2 (R345Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363336	NM_181877.4(ZSCAN2):c.341G>A (p.Arg114Gln)	LOC105370947, ZSCAN2 (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358466	NM_181877.4(ZSCAN2):c.1784T>C (p.Phe595Ser)	ZSCAN2 (F595S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350340	NM_181877.4(ZSCAN2):c.110A>G (p.Asp37Gly)	LOC105370947, ZSCAN2 (D37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348441	NM_181877.4(ZSCAN2):c.1171A>G (p.Lys391Glu)	ZSCAN2 (K390E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347862	NM_181877.4(ZSCAN2):c.1778A>G (p.Lys593Arg)	ZSCAN2 (K592R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334123	NM_181877.4(ZSCAN2):c.480C>A (p.Phe160Leu)	ZSCAN2 (F159L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314480	NM_181877.4(ZSCAN2):c.1769A>C (p.Glu590Ala)	ZSCAN2 (E589A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298592	NM_181877.4(ZSCAN2):c.1102G>A (p.Gly368Ser)	ZSCAN2 (G368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292950	NM_181877.4(ZSCAN2):c.190G>A (p.Gly64Ser)	LOC105370947, ZSCAN2 (G64S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2285994	NM_181877.4(ZSCAN2):c.890A>G (p.Gln297Arg)	ZSCAN2 (Q296R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282714	NM_181877.4(ZSCAN2):c.820G>A (p.Gly274Arg)	ZSCAN2 (G273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281647	NM_181877.4(ZSCAN2):c.1564C>T (p.Arg522Trp)	ZSCAN2 (R521W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261900	NM_181877.4(ZSCAN2):c.1574C>T (p.Thr525Met)	ZSCAN2 (T524M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258726	NM_181877.4(ZSCAN2):c.1493G>A (p.Gly498Glu)	ZSCAN2 (G497E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255060	NM_181877.4(ZSCAN2):c.964A>T (p.Ile322Phe)	ZSCAN2 (I322F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251040	NM_181877.4(ZSCAN2):c.1113T>A (p.Phe371Leu)	ZSCAN2 (F371L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222196	NM_181877.4(ZSCAN2):c.1490C>A (p.Thr497Lys)	ZSCAN2 (T497K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211034	NM_181877.4(ZSCAN2):c.388C>G (p.Gln130Glu)	LOC105370947, ZSCAN2 (Q130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207523	NM_181877.4(ZSCAN2):c.482C>G (p.Ser161Trp)	ZSCAN2 (S160W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1809087	GRCh37/hg19 15q25.2-25.3(chr15:84910816-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808235	GRCh37/hg19 15q25.2-25.3(chr15:85084471-85528298)x3	ALPK3, NMB +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807730	GRCh37/hg19 15q25.2-25.3(chr15:84827469-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980541	GRCh37/hg19 15q25.2-25.3(chr15:85089553-85876582)x3	WDR73, ALPK3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980540	GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1	ADAMTSL3, ALPK3 +19 more	Copy number loss	not provided	GPathogenic
Select item 815740	GRCh37/hg19 15q25.2-25.3(chr15:84928663-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 687710	GRCh37/hg19 15q25.2-25.3(chr15:84884801-85724984)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GPathogenic
Select item 625752	GRCh37/hg19 15q25.2-25.3(chr15:85147499-85681120)	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 560037	Single allele	ALPK3, LINC00933 +39 more	Deletion	not provided	GUncertain significance
Select item 523252	GRCh37/hg19 15q25.2-25.3(chr15:85149690-85666309)	WDR73, ALPK3 +6 more	Copy number loss	Hearing impairment +1 more	GUncertain significance
Select item 443753	GRCh37/hg19 15q25.2-25.3(chr15:84928829-85724984)x1	ALPK3, NMB +6 more	Copy number loss	See cases	GUncertain significance
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442875	GRCh37/hg19 15q25.2-25.3(chr15:85084470-85725149)x1	ALPK3, NMB +6 more	Copy number loss	See cases	GUncertain significance
Select item 442282	GRCh37/hg19 15q25.2-25.3(chr15:85084470-85724984)x1	ALPK3, NMB +6 more	Copy number loss	See cases	GUncertain significance
Select item 442279	GRCh37/hg19 15q25.2-25.3(chr15:85085321-85709192)x3	ALPK3, NMB +6 more	Copy number gain	See cases	GUncertain significance
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 394016	GRCh37/hg19 15q25.2-25.3(chr15:85146993-85670946)x1	SEC11A, SLC28A1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 394014	GRCh37/hg19 15q25.2-25.3(chr15:85146993-85670946)x3	SLC28A1, WDR73 +6 more	Copy number gain	See cases	GUncertain significance
Select item 393544	GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1	SLC28A1, WDR73 +6 more	Copy number loss	VATER association	GLikely benign

<< First< Prev

Page of 2