1063[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 672

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 147391	GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3	CENPF, ESRRG +30 more	Copy number gain	See cases	GUncertain significance
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 154040	GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3	CENPF, ESRRG +40 more	Copy number gain	See cases	GUncertain significance
Select item 1198092	NM_016343.4(CENPF):c.-41-312C>A	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209451	NM_016343.4(CENPF):c.-41-257T>C	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2481760	NM_016343.4(CENPF):c.25A>C (p.Lys9Gln)	CENPF (K9Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1209807	NM_016343.4(CENPF):c.33G>A (p.Gly11=)	CENPF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1032734	NM_016343.4(CENPF):c.37C>T (p.Pro13Ser)	CENPF (P13S)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
Select item 2501220	NM_016343.4(CENPF):c.40A>G (p.Thr14Ala)	CENPF (T14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572819	NM_016343.4(CENPF):c.44G>C (p.Arg15Thr)	CENPF (R15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3142332	NM_016343.4(CENPF):c.47C>G (p.Ala16Gly)	CENPF (A16G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365867	NM_016343.4(CENPF):c.66G>T (p.Glu22Asp)	CENPF (E22D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2248807	NM_016343.4(CENPF):c.74G>T (p.Gly25Val)	CENPF (G25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588663	NM_016343.4(CENPF):c.85A>C (p.Lys29Gln)	CENPF (K29Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288968	NM_016343.4(CENPF):c.92A>G (p.Lys31Arg)	CENPF (K31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1307760	NM_016343.4(CENPF):c.117T>G (p.Phe39Leu)	CENPF (F39L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1951398	NM_016343.4(CENPF):c.127A>G (p.Ser43Gly)	CENPF (S43G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736675	NM_016343.4(CENPF):c.132C>T (p.Leu44=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3357161	NM_016343.4(CENPF):c.140C>T (p.Ala47Val)	CENPF (A47V)	Single nucleotide variant (missense variant)	CENPF-related disorder	GUncertain significance
Select item 1703970	NM_016343.4(CENPF):c.143T>C (p.Leu48Pro)	CENPF (L48P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197904	NM_016343.4(CENPF):c.162+55G>C	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265959	NM_016343.4(CENPF):c.162+171A>G	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249271	NM_016343.4(CENPF):c.162+205dup	CENPF	Duplication (intron variant)	not provided	GBenign
Select item 1183371	NM_016343.4(CENPF):c.162+204_162+205dup	CENPF	Duplication (intron variant)	not provided	GBenign
Select item 1218534	NM_016343.4(CENPF):c.162+268G>C	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237184	NM_016343.4(CENPF):c.162+284A>G	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190879	NM_016343.4(CENPF):c.162+300A>G	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217866	NM_016343.4(CENPF):c.162+301C>T	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 872564	NM_016343.4(CENPF):c.163-3T>A	CENPF, LOC126806006	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 224501	NM_016343.4(CENPF):c.171_199del (p.Asn57fs)	CENPF, LOC126806006 (N57fs)	Deletion (frameshift variant)	Stromme syndrome	GPathogenic
Select item 3345494	NM_016343.4(CENPF):c.196A>T (p.Lys66Ter)	LOC126806006, CENPF (K66*)	Single nucleotide variant (nonsense)	CENPF-related disorder	GPathogenic
Select item 3142312	NM_016343.4(CENPF):c.203A>G (p.Glu68Gly)	CENPF, LOC126806006 (E68G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639888	NM_016343.4(CENPF):c.235C>T (p.Leu79=)	CENPF, LOC126806006	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3142317	NM_016343.4(CENPF):c.281A>G (p.Glu94Gly)	CENPF, LOC126806006 (E94G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1371364	NM_016343.4(CENPF):c.287A>G (p.Gln96Arg)	CENPF, LOC126806006 (Q96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 760026	NM_016343.4(CENPF):c.300G>A (p.Gln100=)	CENPF, LOC126806006	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487523	NM_016343.4(CENPF):c.305G>A (p.Gly102Glu)	CENPF, LOC126806006 (G102E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791832	NM_016343.4(CENPF):c.312G>A (p.Leu104=)	CENPF, LOC126806006	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2577653	NM_016343.4(CENPF):c.322A>C (p.Lys108Gln)	CENPF, LOC126806006 (K108Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173929	NM_016343.4(CENPF):c.330A>G (p.Gln110=)	CENPF, LOC126806006	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591257	NM_016343.4(CENPF):c.343G>T (p.Glu115Ter)	LOC126806006, CENPF (E115*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1312876	NM_016343.4(CENPF):c.346C>G (p.Gln116Glu)	CENPF, LOC126806006 (Q116E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1187948	NM_016343.4(CENPF):c.359+56C>T	LOC126806006, CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205759	NM_016343.4(CENPF):c.359+212C>T	CENPF, LOC126806006	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243952	NM_016343.4(CENPF):c.360-304C>G	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208669	NM_016343.4(CENPF):c.360-266C>T	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656869	NM_016343.4(CENPF):c.360-14T>C	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3142326	NM_016343.4(CENPF):c.389A>G (p.Gln130Arg)	CENPF (Q130R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3022952	NM_016343.4(CENPF):c.396G>T (p.Ala132=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1048671	NM_016343.4(CENPF):c.407A>G (p.Asp136Gly)	CENPF (D136G)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
Select item 2639889	NM_016343.4(CENPF):c.444T>C (p.Ile148=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252085	NM_016343.4(CENPF):c.455C>T (p.Pro152Leu)	CENPF (P152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1200966	NM_016343.4(CENPF):c.481+212G>T	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296697	NM_016343.4(CENPF):c.482-192A>G	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194258	NM_016343.4(CENPF):c.482-123C>G	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642614	NM_016343.4(CENPF):c.486C>T (p.Ser162=)	CENPF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3265888	NM_016343.4(CENPF):c.512A>G (p.Tyr171Cys)	CENPF (Y171C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1452892	NM_016343.4(CENPF):c.532C>T (p.Arg178Ter)	CENPF (R178*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1336990	NM_016343.4(CENPF):c.533G>A (p.Arg178Gln)	CENPF (R178Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 767750	NM_016343.4(CENPF):c.562T>C (p.Leu188=)	CENPF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2494152	NM_016343.4(CENPF):c.572A>C (p.Lys191Thr)	CENPF (K191T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1898114	NM_016343.4(CENPF):c.573+16G>T	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195571	NM_016343.4(CENPF):c.573+263A>G	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296704	NM_016343.4(CENPF):c.574-185G>A	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193927	NM_016343.4(CENPF):c.574-130G>A	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 190386	NM_016343.4(CENPF):c.574-2A>C	CENPF	Single nucleotide variant (splice acceptor variant)	CENPF-related disorder +1 more	GPathogenic
Select item 2608327	NM_016343.4(CENPF):c.577G>A (p.Ala193Thr)	CENPF (A193T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265904	NM_016343.4(CENPF):c.584A>G (p.Gln195Arg)	CENPF (Q195R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367942	NM_016343.4(CENPF):c.619A>G (p.Ile207Val)	CENPF (I207V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489197	NM_016343.4(CENPF):c.623C>T (p.Ala208Val)	CENPF (A208V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 444194	NM_016343.4(CENPF):c.625C>T (p.Arg209Trp)	CENPF (R209W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503228	NM_016343.4(CENPF):c.626G>A (p.Arg209Gln)	CENPF (R209Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 434702	NM_016343.4(CENPF):c.635C>A (p.Ala212Asp)	CENPF (A212D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1309762	NM_016343.4(CENPF):c.641C>T (p.Ser214Leu)	CENPF (S214L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595949	NM_016343.4(CENPF):c.643T>C (p.Ser215Pro)	CENPF (S215P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1557389	NM_016343.4(CENPF):c.651C>T (p.Phe217=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594902	NM_016343.4(CENPF):c.687A>G (p.Ser229=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2389184	NM_016343.4(CENPF):c.695C>A (p.Ser232Tyr)	CENPF (S232Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050977	NM_016343.4(CENPF):c.726T>C (p.Ser242=)	CENPF	Single nucleotide variant (synonymous variant)	CENPF-related disorder	GLikely benign
Select item 2880268	NM_016343.4(CENPF):c.756dup (p.Thr253fs)	CENPF (T253fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 730782	NM_016343.4(CENPF):c.766C>A (p.Arg256=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353957	NM_016343.4(CENPF):c.767G>A (p.Arg256Gln)	CENPF (R256Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027369	NM_016343.4(CENPF):c.821C>G (p.Ser274Cys)	CENPF (S274C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485611	NM_016343.4(CENPF):c.852A>T (p.Lys284Asn)	CENPF (K284N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715859	NM_016343.4(CENPF):c.855G>A (p.Ala285=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1270411	NM_016343.4(CENPF):c.865+237C>G	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263663	NM_016343.4(CENPF):c.865+267T>A	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219702	NM_016343.4(CENPF):c.865+306G>A	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194035	NM_016343.4(CENPF):c.866-115G>T	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 783016	NM_016343.4(CENPF):c.898C>T (p.Arg300Cys)	CENPF (R300C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3234429	NM_016343.4(CENPF):c.900C>T (p.Arg300=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3142357	NM_016343.4(CENPF):c.919G>A (p.Glu307Lys)	CENPF (E307K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1338138	NM_016343.4(CENPF):c.945T>G (p.Phe315Leu)	CENPF (F315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2063702	NM_016343.4(CENPF):c.965T>C (p.Leu322Pro)	CENPF (L322P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

<< First< Prev

Page of 7