29229[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 2314774	NM_001144990.2(NWD2):c.17C>T (p.Ala6Val)	NWD2 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203469	NM_001144990.2(NWD2):c.95C>T (p.Ser32Phe)	NWD2 (S32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303171	NM_001144990.2(NWD2):c.127G>A (p.Val43Ile)	NWD2 (V43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150318	GRCh38/hg38 4p14(chr4:37283110-38559285)x3	C4orf19, LINC01258 +68 more	Copy number gain	See cases	GUncertain significance
Select item 3301697	NM_001144990.2(NWD2):c.187G>A (p.Val63Ile)	NWD2 (V63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266071	NM_001144990.2(NWD2):c.305G>A (p.Arg102His)	NWD2 (R102H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360425	NM_001144990.2(NWD2):c.322A>C (p.Asn108His)	NWD2 (N108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460112	NM_001144990.2(NWD2):c.340G>T (p.Ala114Ser)	NWD2 (A114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203461	NM_001144990.2(NWD2):c.350G>C (p.Cys117Ser)	NWD2 (C117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382719	NM_001144990.2(NWD2):c.391A>G (p.Ile131Val)	NWD2 (I131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551686	NM_001144990.2(NWD2):c.433G>A (p.Asp145Asn)	NWD2 (D145N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406274	NM_001144990.2(NWD2):c.439G>A (p.Ala147Thr)	NWD2 (A147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323699	NM_001144990.2(NWD2):c.440C>T (p.Ala147Val)	NWD2 (A147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654710	NM_001144990.2(NWD2):c.456G>A (p.Leu152=)	NWD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2269037	NM_001144990.2(NWD2):c.464A>C (p.Lys155Thr)	NWD2 (K155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283588	NM_001144990.2(NWD2):c.524G>C (p.Arg175Thr)	NWD2 (R175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301690	NM_001144990.2(NWD2):c.527C>A (p.Pro176His)	NWD2 (P176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462554	NM_001144990.2(NWD2):c.540G>A (p.Met180Ile)	NWD2 (M180I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203466	NM_001144990.2(NWD2):c.555A>C (p.Arg185Ser)	NWD2 (R185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538487	NM_001144990.2(NWD2):c.575C>T (p.Thr192Ile)	NWD2 (T192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654711	NM_001144990.2(NWD2):c.657C>T (p.His219=)	NWD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618017	NM_001144990.2(NWD2):c.695A>T (p.Tyr232Phe)	NWD2 (Y232F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399716	NM_001144990.2(NWD2):c.800A>G (p.Glu267Gly)	NWD2 (E267G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203467	NM_001144990.2(NWD2):c.869G>A (p.Arg290Gln)	NWD2 (R290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203468	NM_001144990.2(NWD2):c.880G>A (p.Ala294Thr)	NWD2 (A294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473467	NM_001144990.2(NWD2):c.884A>T (p.Gln295Leu)	NWD2 (Q295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339053	NM_001144990.2(NWD2):c.1091C>G (p.Thr364Ser)	NWD2 (T364S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203450	NM_001144990.2(NWD2):c.1127A>G (p.His376Arg)	NWD2 (H376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513802	NM_001144990.2(NWD2):c.1145C>T (p.Thr382Ile)	NWD2 (T382I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456871	NM_001144990.2(NWD2):c.1150G>A (p.Ala384Thr)	NWD2 (A384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555014	NM_001144990.2(NWD2):c.1180C>A (p.Leu394Ile)	NWD2 (L394I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301685	NM_001144990.2(NWD2):c.1298C>T (p.Ala433Val)	NWD2 (A433V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301692	NM_001144990.2(NWD2):c.1435C>T (p.Arg479Trp)	NWD2 (R479W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780033	NM_001144990.2(NWD2):c.1534A>G (p.Ile512Val)	NWD2 (I512V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2476200	NM_001144990.2(NWD2):c.1600C>T (p.His534Tyr)	NWD2 (H534Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321505	NM_001144990.2(NWD2):c.1621A>T (p.Ile541Leu)	NWD2 (I541L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203451	NM_001144990.2(NWD2):c.1644C>G (p.Asn548Lys)	NWD2 (N548K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203452	NM_001144990.2(NWD2):c.1676T>C (p.Leu559Pro)	NWD2 (L559P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487814	NM_001144990.2(NWD2):c.1678A>T (p.Ile560Phe)	NWD2 (I560F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301682	NM_001144990.2(NWD2):c.1760G>A (p.Arg587His)	NWD2 (R587H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472334	NM_001144990.2(NWD2):c.1829C>T (p.Pro610Leu)	NWD2 (P610L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203453	NM_001144990.2(NWD2):c.1880A>G (p.Lys627Arg)	NWD2 (K627R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320329	NM_001144990.2(NWD2):c.1885G>A (p.Val629Ile)	NWD2 (V629I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654712	NM_001144990.2(NWD2):c.1911C>T (p.Thr637=)	NWD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487840	NM_001144990.2(NWD2):c.1918G>A (p.Glu640Lys)	NWD2 (E640K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296373	NM_001144990.2(NWD2):c.1919A>G (p.Glu640Gly)	NWD2 (E640G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203454	NM_001144990.2(NWD2):c.2014C>G (p.Leu672Val)	NWD2 (L672V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301693	NM_001144990.2(NWD2):c.2093G>A (p.Ser698Asn)	NWD2 (S698N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203455	NM_001144990.2(NWD2):c.2117T>C (p.Leu706Ser)	NWD2 (L706S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265925	NM_001144990.2(NWD2):c.2141G>A (p.Gly714Asp)	NWD2 (G714D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253764	NM_001144990.2(NWD2):c.2174A>G (p.Lys725Arg)	NWD2 (K725R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589603	NM_001144990.2(NWD2):c.2183C>T (p.Thr728Ile)	NWD2 (T728I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315030	NM_001144990.2(NWD2):c.2455T>C (p.Cys819Arg)	NWD2 (C819R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235258	NM_001144990.2(NWD2):c.2485G>A (p.Val829Ile)	NWD2 (V829I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616530	NM_001144990.2(NWD2):c.2555A>G (p.Tyr852Cys)	NWD2 (Y852C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301688	NM_001144990.2(NWD2):c.2627A>C (p.Asp876Ala)	NWD2 (D876A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301679	NM_001144990.2(NWD2):c.2690G>A (p.Arg897His)	NWD2 (R897H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203457	NM_001144990.2(NWD2):c.2698A>C (p.Lys900Gln)	NWD2 (K900Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654713	NM_001144990.2(NWD2):c.2775G>A (p.Leu925=)	NWD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654714	NM_001144990.2(NWD2):c.2842C>T (p.Leu948=)	NWD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3203458	NM_001144990.2(NWD2):c.2879G>A (p.Arg960His)	NWD2 (R960H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602940	NM_001144990.2(NWD2):c.2907T>A (p.His969Gln)	NWD2 (H969Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301684	NM_001144990.2(NWD2):c.2971A>G (p.Ile991Val)	NWD2 (I991V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519834	NM_001144990.2(NWD2):c.2991G>C (p.Glu997Asp)	NWD2 (E997D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301689	NM_001144990.2(NWD2):c.2995C>G (p.Arg999Gly)	NWD2 (R999G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301698	NM_001144990.2(NWD2):c.3049C>T (p.Leu1017Phe)	NWD2 (L1017F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463554	NM_001144990.2(NWD2):c.3125G>T (p.Cys1042Phe)	NWD2 (C1042F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203459	NM_001144990.2(NWD2):c.3144A>C (p.Glu1048Asp)	NWD2 (E1048D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514884	NM_001144990.2(NWD2):c.3171C>A (p.Ser1057Arg)	NWD2 (S1057R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508858	NM_001144990.2(NWD2):c.3211G>A (p.Ala1071Thr)	NWD2 (A1071T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787798	NM_001144990.2(NWD2):c.3219A>T (p.Ala1073=)	NWD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3203460	NM_001144990.2(NWD2):c.3272C>T (p.Pro1091Leu)	NWD2 (P1091L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283862	NM_001144990.2(NWD2):c.3287A>C (p.His1096Pro)	NWD2 (H1096P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301695	NM_001144990.2(NWD2):c.3305C>T (p.Thr1102Met)	NWD2 (T1102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301696	NM_001144990.2(NWD2):c.3338C>G (p.Ala1113Gly)	NWD2 (A1113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301687	NM_001144990.2(NWD2):c.3356T>C (p.Leu1119Pro)	NWD2 (L1119P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546592	NM_001144990.2(NWD2):c.3425G>A (p.Gly1142Asp)	NWD2 (G1142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654715	NM_001144990.2(NWD2):c.3576G>T (p.Val1192=)	NWD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2482385	NM_001144990.2(NWD2):c.3653G>T (p.Gly1218Val)	NWD2 (G1218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301678	NM_001144990.2(NWD2):c.3697C>T (p.Arg1233Cys)	NWD2 (R1233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510692	NM_001144990.2(NWD2):c.3698G>A (p.Arg1233His)	NWD2 (R1233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301680	NM_001144990.2(NWD2):c.3712G>A (p.Val1238Met)	NWD2 (V1238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253684	NM_001144990.2(NWD2):c.3749T>G (p.Met1250Arg)	NWD2 (M1250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272130	NM_001144990.2(NWD2):c.3974C>T (p.Pro1325Leu)	NWD2 (P1325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301691	NM_001144990.2(NWD2):c.3983G>T (p.Gly1328Val)	NWD2 (G1328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466469	NM_001144990.2(NWD2):c.3991A>G (p.Ile1331Val)	NWD2 (I1331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654716	NM_001144990.2(NWD2):c.4188C>T (p.Asn1396=)	NWD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236832	NM_001144990.2(NWD2):c.4196G>A (p.Arg1399Lys)	NWD2 (R1399K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251139	NM_001144990.2(NWD2):c.4366A>G (p.Lys1456Glu)	NWD2 (K1456E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455127	NM_001144990.2(NWD2):c.4432G>A (p.Gly1478Arg)	NWD2 (G1478R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207113	NM_001144990.2(NWD2):c.4483G>A (p.Val1495Met)	NWD2 (V1495M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654717	NM_001144990.2(NWD2):c.4497G>A (p.Ser1499=)	NWD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3203463	NM_001144990.2(NWD2):c.4579C>A (p.Leu1527Met)	NWD2 (L1527M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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