WWC2[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 168

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993386, LOC129993387 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993497, LOC129993498 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	SCRG1, SH3RF1 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	LOC129993480, LOC129993481 +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993505, LOC129993506 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	AADAT, ACSL1 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	AADAT, ACSL1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LINC02500, LINC02504 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	ACSL1, ADAM29 +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	ACSL1, ADAM29 +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	FAM149A, FAT1 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	LOC129993464, LOC129993465 +339 more	Copy number loss	See cases	GPathogenic
Select item 59512	GRCh38/hg38 4q34.1-35.1(chr4:174080892-183195538)x1	ADAM29, AGA +103 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC129993464, LOC129993465 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	ACSL1, ANKRD37 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	LOC129993443, LOC129993444 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	LOC126807246, LOC126807247 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	ACSL1, ANKRD37 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	LOC129993452, LOC129993453 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	ACSL1, ANKRD37 +274 more	Copy number gain	See cases	GPathogenic
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 33229	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 154160	GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1	LINC02363, LINC02365 +148 more	Copy number loss	See cases	GUncertain significance
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 59778	GRCh38/hg38 4q35.1(chr4:182915444-183265722)x3	DCTD, LOC112939927 +13 more	Copy number gain	See cases	GBenign
Select item 58063	GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	ACSL1, ANKRD37 +165 more	Copy number gain	See cases	GPathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 2237935	NM_024949.6(WWC2):c.8G>A (p.Arg3Lys)	WWC2 (R3K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286906	NM_024949.6(WWC2):c.170A>C (p.Asp57Ala)	WWC2 (D57A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261794	NM_024949.6(WWC2):c.326A>T (p.Asp109Val)	WWC2 (D109V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301493	NM_024949.6(WWC2):c.397G>A (p.Val133Met)	WWC2 (V133M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 152799	GRCh38/hg38 4q35.1(chr4:183235127-183370360)x3	CLDN22, CLDN24 +6 more	Copy number gain	See cases	GUncertain significance
Select item 2215592	NM_024949.6(WWC2):c.553A>G (p.Met185Val)	WWC2, WWC2-AS1 (M185V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205946	NM_024949.6(WWC2):c.617T>A (p.Met206Lys)	WWC2 (M206K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515284	NM_024949.6(WWC2):c.817T>A (p.Ser273Thr)	WWC2 (S273T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293092	NM_024949.6(WWC2):c.935A>G (p.Tyr312Cys)	WWC2 (Y312C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621637	NM_024949.6(WWC2):c.980C>T (p.Ser327Leu)	WWC2 (S327L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376468	NM_024949.6(WWC2):c.1081G>A (p.Val361Ile)	WWC2 (V361I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614415	NM_024949.6(WWC2):c.1087C>T (p.Pro363Ser)	WWC2 (P363S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568944	NM_024949.6(WWC2):c.1126G>T (p.Ala376Ser)	WWC2 (A376S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313576	NM_024949.6(WWC2):c.1133G>A (p.Arg378Lys)	WWC2 (R378K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552067	NM_024949.6(WWC2):c.1138C>T (p.Arg380Trp)	WWC2 (R380W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401522	NM_024949.6(WWC2):c.1192G>A (p.Glu398Lys)	WWC2 (E398K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780936	NM_024949.6(WWC2):c.1468C>T (p.Leu490=)	WWC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2212654	NM_024949.6(WWC2):c.1484G>T (p.Gly495Val)	WWC2 (G495V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534151	NM_024949.6(WWC2):c.1493C>A (p.Pro498His)	WWC2 (P498H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618703	NM_024949.6(WWC2):c.1514T>C (p.Ile505Thr)	WWC2 (I505T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401362	NM_024949.6(WWC2):c.1548G>T (p.Gln516His)	WWC2 (Q516H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536793	NM_024949.6(WWC2):c.1570G>C (p.Gly524Arg)	WWC2 (G524R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284396	NM_024949.6(WWC2):c.1790T>C (p.Ile597Thr)	WWC2 (I597T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306023	NM_024949.6(WWC2):c.1864G>T (p.Asp622Tyr)	WWC2 (D622Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289966	NM_024949.6(WWC2):c.1868T>C (p.Leu623Pro)	WWC2 (L623P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355580	NM_024949.6(WWC2):c.1939G>A (p.Val647Met)	WWC2 (V647M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334797	NM_024949.6(WWC2):c.2086A>G (p.Ile696Val)	WWC2 (I696V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2617096	NM_024949.6(WWC2):c.2111T>C (p.Ile704Thr)	WWC2 (I704T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536669	NM_024949.6(WWC2):c.2134A>G (p.Ser712Gly)	WWC2 (S712G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245595	NM_024949.6(WWC2):c.2204A>C (p.Lys735Thr)	WWC2 (K735T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373890	NM_024949.6(WWC2):c.2239A>G (p.Thr747Ala)	WWC2 (T747A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2610328	NM_024949.6(WWC2):c.2335T>G (p.Leu779Val)	WWC2 (L779V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 755128	NM_024949.6(WWC2):c.2346G>A (p.Lys782=)	WWC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2297973	NM_024949.6(WWC2):c.2401G>T (p.Ala801Ser)	WWC2 (A801S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568945	NM_024949.6(WWC2):c.2834A>G (p.Asn945Ser)	WWC2 (N969S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2347540	NM_024949.6(WWC2):c.2920G>A (p.Asp974Asn)	WWC2 (D974N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346927	NM_024949.6(WWC2):c.3100G>A (p.Val1034Met)	WWC2 (V1058M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555420	NM_024949.6(WWC2):c.3113C>T (p.Thr1038Ile)	WWC2 (T1062I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551723	NM_024949.6(WWC2):c.3118C>T (p.Arg1040Cys)	WWC2 (R1064C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610696	NM_024949.6(WWC2):c.3125G>C (p.Ser1042Thr)	WWC2 (S1042T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544995	NM_024949.6(WWC2):c.3190C>T (p.Arg1064Trp)	WWC2 (R1064W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262387	NM_024949.6(WWC2):c.3191G>A (p.Arg1064Gln)	WWC2 (R1064Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776033	NM_024949.6(WWC2):c.3195A>G (p.Thr1065=)	WWC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2375939	NM_024949.6(WWC2):c.3244C>T (p.Arg1082Cys)	WWC2 (R1082C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369766	NM_024949.6(WWC2):c.3245G>T (p.Arg1082Leu)	WWC2 (R1106L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 207935	NM_024949.6(WWC2):c.3260T>C (p.Leu1087Pro)	WWC2 (L1087P)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2353136	NM_024949.6(WWC2):c.3280C>G (p.Arg1094Gly)	WWC2 (R1118G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206498	NM_024949.6(WWC2):c.3463C>T (p.Arg1155Trp)	WWC2 (R1155W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493523	NM_024949.6(WWC2):c.3493C>T (p.Arg1165Trp)	WWC2 (R1189W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458303	NM_001111319.3(CLDN22):c.602T>C (p.Val201Ala)	CLDN22, WWC2 (V201A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214566	NM_001111319.3(CLDN22):c.574G>A (p.Ala192Thr)	CLDN22, WWC2 (A192T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495976	NM_001111319.3(CLDN22):c.568A>G (p.Ser190Gly)	CLDN22, WWC2 (S190G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605948	NM_001111319.3(CLDN22):c.536G>A (p.Gly179Glu)	CLDN22, WWC2 (G179E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410971	NM_001111319.3(CLDN22):c.409G>A (p.Val137Ile)	CLDN22, WWC2 (V137I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2