1457[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 244

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 150565	GRCh38/hg38 20p13(chr20:80093-1246766)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GPathogenic
Select item 154852	GRCh38/hg38 20p13(chr20:80106-1246891)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GLikely pathogenic
Select item 150049	GRCh38/hg38 20p13(chr20:80106-702368)x3	C20orf96, CSNK2A1 +51 more	Copy number gain	See cases	GUncertain significance
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 146515	GRCh38/hg38 20p13(chr20:89939-1246891)x3	ANGPT4, C20orf202 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC129391148, LOC129391149 +110 more	Copy number loss	See cases	GPathogenic
Select item 58941	GRCh38/hg38 20p13(chr20:89939-975656)x1	ANGPT4, C20orf96 +64 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 57307	GRCh38/hg38 20p13(chr20:89939-1028206)x3	ANGPT4, C20orf96 +65 more	Copy number gain	See cases	GPathogenic
Select item 57188	GRCh38/hg38 20p13(chr20:89939-1360110)x1	ANGPT4, C20orf202 +87 more	Copy number loss	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 150978	GRCh38/hg38 20p13(chr20:295139-500987)x1	CSNK2A1, LOC116286198 +29 more	Copy number loss	See cases	GUncertain significance
Select item 151036	GRCh38/hg38 20p13(chr20:364204-879317)x3	ANGPT4, CSNK2A1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 1705027	GRCh38/hg38 20p13(chr20:453176-822262)x1	CSNK2A1, LOC121852996 +17 more	Copy number loss	Delayed speech and language development +4 more	GPathogenic
Select item 2498872	NM_177559.3(CSNK2A1):c.*5299G>C	CSNK2A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1335454	NM_177559.3(CSNK2A1):c.*5262G>C	CSNK2A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2652128	NM_177559.3(CSNK2A1):c.5192_5195dup	CSNK2A1	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1273190	NM_177559.3(CSNK2A1):c.*156del	CSNK2A1	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1249520	NM_177559.3(CSNK2A1):c.*2G>A	CSNK2A1	Single nucleotide variant (3 prime UTR variant)	CSNK2A1-related condition +1 more	GBenign
Select item 1264567	NM_177559.3(CSNK2A1):c.*1C>T	CSNK2A1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign/Likely benign
Select item 1804402	NM_177559.3(CSNK2A1):c.1172A>G (p.Gln391Arg)	CSNK2A1 (Q255R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2367767	NM_177559.3(CSNK2A1):c.1165G>A (p.Ala389Thr)	CSNK2A1 (A253T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1261752	NM_177559.3(CSNK2A1):c.1159G>A (p.Ala387Thr)	CSNK2A1 (A251T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 424257	NM_177559.3(CSNK2A1):c.1145C>T (p.Pro382Leu)	CSNK2A1 (P382L +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome +1 more	GUncertain significance
Select item 756038	NM_177559.3(CSNK2A1):c.1104A>G (p.Ala368=)	CSNK2A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1029545	NM_177559.3(CSNK2A1):c.1088C>A (p.Pro363His)	CSNK2A1 (P227H +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 3078293	NM_177559.3(CSNK2A1):c.1087C>T (p.Pro363Ser)	CSNK2A1 (P227S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1178023	NM_177559.3(CSNK2A1):c.1084T>G (p.Ser362Ala)	CSNK2A1 (S226A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3078291	NM_177559.3(CSNK2A1):c.1082C>A (p.Pro361His)	CSNK2A1 (P225H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033455	NM_177559.3(CSNK2A1):c.1066T>A (p.Ser356Thr)	CSNK2A1 (S356T +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome +1 more	GUncertain significance
Select item 1277616	NM_177559.3(CSNK2A1):c.1061-9T>C	CSNK2A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1186946	NM_177559.3(CSNK2A1):c.1061-75C>T	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203223	NM_177559.3(CSNK2A1):c.1061-157A>G	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 809211	NM_177559.3(CSNK2A1):c.1036G>A (p.Val346Ile)	CSNK2A1 (V346I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574999	NM_177559.3(CSNK2A1):c.1025dup (p.Ser343fs)	CSNK2A1 (S207fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2494434	NM_177559.3(CSNK2A1):c.1025G>A (p.Gly342Asp)	CSNK2A1 (G342D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1304215	NM_177559.3(CSNK2A1):c.1003G>A (p.Gly335Ser)	CSNK2A1 (G199S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989368	NM_177559.3(CSNK2A1):c.997C>T (p.Arg333Ter)	CSNK2A1 (R197* +1 more)	Single nucleotide variant (nonsense)	CSNK2A1-related neurodevelopmental syndrome	GLikely pathogenic
Select item 1302283	NM_177559.3(CSNK2A1):c.993G>C (p.Gln331His)	CSNK2A1 (Q195H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630977	NM_177559.3(CSNK2A1):c.990C>A (p.Asp330Glu)	CSNK2A1 (D194E +1 more)	Single nucleotide variant (missense variant)	CSNK2A1-related condition	GUncertain significance
Select item 992292	NM_177559.3(CSNK2A1):c.982G>T (p.Val328Leu)	CSNK2A1 (V192L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178741	NM_177559.3(CSNK2A1):c.974-90A>G	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225252	NM_177559.3(CSNK2A1):c.974-177C>G	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230472	NM_177559.3(CSNK2A1):c.974-252A>G	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283014	NM_177559.3(CSNK2A1):c.973+198_973+199del	CSNK2A1	Deletion (intron variant)	not provided	GBenign
Select item 1277929	NM_177559.3(CSNK2A1):c.973+70A>G	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682512	NM_177559.3(CSNK2A1):c.973+3G>A	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2440582	NM_177559.3(CSNK2A1):c.955A>G (p.Met319Val)	CSNK2A1 (M183V +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2630140	NM_177559.3(CSNK2A1):c.941C>G (p.Thr314Ser)	CSNK2A1 (T178S +1 more)	Single nucleotide variant (missense variant)	CSNK2A1-related condition	GUncertain significance
Select item 1328596	NM_177559.3(CSNK2A1):c.935G>A (p.Arg312Gln)	CSNK2A1 (R176Q +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 984881	NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp)	CSNK2A1 (R176W +1 more)	Single nucleotide variant (missense variant)	Developmental disorder +3 more	GPathogenic/Likely pathogenic
Select item 1186816	NM_177559.3(CSNK2A1):c.921T>G (p.Tyr307Ter)	CSNK2A1 (Y171* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1334752	NM_177559.3(CSNK2A1):c.916C>T (p.Arg306Ter)	CSNK2A1 (R170* +1 more)	Single nucleotide variant (nonsense)	Okur-Chung neurodevelopmental syndrome +1 more	GLikely pathogenic
Select item 1699512	NM_177559.3(CSNK2A1):c.890C>G (p.Ala297Gly)	CSNK2A1 (A161G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708253	NM_177559.3(CSNK2A1):c.858C>T (p.His286=)	CSNK2A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1329650	NM_177559.3(CSNK2A1):c.838C>T (p.Arg280Ter)	CSNK2A1 (R144* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1690320	NM_177559.3(CSNK2A1):c.832C>T (p.Arg278Ter)	CSNK2A1 (R142* +1 more)	Single nucleotide variant (nonsense)	Okur-Chung neurodevelopmental syndrome	GPathogenic
Select item 1212701	NM_177559.3(CSNK2A1):c.824+277G>A	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203693	NM_177559.3(CSNK2A1):c.824+85T>C	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 224797	NM_177559.3(CSNK2A1):c.824+2T>C	CSNK2A1	Single nucleotide variant (splice donor variant)	Okur-Chung neurodevelopmental syndrome	GPathogenic
Select item 2440583	NM_177559.3(CSNK2A1):c.809A>G (p.Asn270Ser)	CSNK2A1 (N134S +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 1712903	NM_177559.3(CSNK2A1):c.802C>T (p.Arg268Cys)	CSNK2A1 (R132C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521073	NM_177559.3(CSNK2A1):c.783C>A (p.Tyr261Ter)	CSNK2A1 (Y261* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1298864	NM_177559.3(CSNK2A1):c.753A>G (p.Thr251=)	CSNK2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498048	NM_177559.3(CSNK2A1):c.746T>C (p.Leu249Pro)	CSNK2A1 (L113P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700750	NM_177559.3(CSNK2A1):c.746T>G (p.Leu249Arg)	CSNK2A1 (L113R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256946	NM_177559.3(CSNK2A1):c.723+160C>T	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1012468	NM_177559.3(CSNK2A1):c.723+1G>C	CSNK2A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1810665	NM_177559.3(CSNK2A1):c.718_720del (p.Asp240del)	CSNK2A1 (D104del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 837706	NM_177559.3(CSNK2A1):c.707A>G (p.His236Arg)	CSNK2A1 (H100R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992354	NM_177559.3(CSNK2A1):c.704G>T (p.Gly235Val)	CSNK2A1 (G99V +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 1310118	NM_177559.3(CSNK2A1):c.688G>T (p.Glu230Ter)	CSNK2A1 (E230* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2572800	NM_177559.3(CSNK2A1):c.645G>A (p.Met215Ile)	CSNK2A1 (M215I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189703	NM_177559.3(CSNK2A1):c.622-68_622-65del	CSNK2A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1289681	NM_177559.3(CSNK2A1):c.622-90dup	CSNK2A1	Duplication (intron variant)	not provided	GBenign
Select item 1181717	NM_177559.3(CSNK2A1):c.622-154del	CSNK2A1	Deletion (intron variant)	not provided	GBenign
Select item 1251635	NM_177559.3(CSNK2A1):c.622-237C>T	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284117	NM_177559.3(CSNK2A1):c.621+171G>A	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 521897	NM_177559.3(CSNK2A1):c.596G>A (p.Gly199Asp)	CSNK2A1 (G199D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 224790	NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	CSNK2A1 (K198R +1 more)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 2440584	NM_177559.3(CSNK2A1):c.584G>A (p.Arg195Gln)	CSNK2A1 (R195Q +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 1700219	NM_177559.3(CSNK2A1):c.584G>C (p.Arg195Pro)	CSNK2A1 (R195P +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 988429	NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter)	CSNK2A1 (R195* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2663860	NM_177559.3(CSNK2A1):c.572G>A (p.Arg191Gln)	CSNK2A1 (R191Q +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GPathogenic

<< First< Prev

Page of 3