SEPSECS[gene] - 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	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	LOC129992439, LOC129992440 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992004, LOC129992005 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992188, LOC129992189 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	LOC123477718, LOC123477719 +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 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 146078	GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1	ANAPC4, CCDC149 +101 more	Copy number loss	See cases	GPathogenic
Select item 156912	NM_018176.3(LGI2):c.-473617_-693dup	ANAPC4, LOC129992330 +14 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 901221	NM_016955.4(SEPSECS):c.*3870A>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348512	NM_016955.4(SEPSECS):c.*3848C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 348513	NM_016955.4(SEPSECS):c.*3775A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 348514	NM_016955.4(SEPSECS):c.*3402AAT[1]	SEPSECS	Microsatellite (3 prime UTR variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 348515	NM_016955.4(SEPSECS):c.*3402A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GLikely benign
Select item 348516	NM_016955.4(SEPSECS):c.*3234T>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348517	NM_016955.4(SEPSECS):c.*3134C>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348518	NM_016955.4(SEPSECS):c.*3082A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348519	NM_016955.4(SEPSECS):c.*2990G>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901770	NM_016955.4(SEPSECS):c.*2966A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 901771	NM_016955.4(SEPSECS):c.*2921A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901772	NM_016955.4(SEPSECS):c.*2916A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901773	NM_016955.4(SEPSECS):c.*2871T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348520	NM_016955.4(SEPSECS):c.*2840T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 348521	NM_016955.4(SEPSECS):c.*2708G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348522	NM_016955.4(SEPSECS):c.*2694A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GLikely benign
Select item 348523	NM_016955.4(SEPSECS):c.*2645A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 902679	NM_016955.4(SEPSECS):c.*2618C>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 902680	NM_016955.4(SEPSECS):c.*2480T>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348524	NM_016955.4(SEPSECS):c.*2300A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348525	NM_016955.4(SEPSECS):c.*2250A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348526	NM_016955.4(SEPSECS):c.*2209A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GLikely benign
Select item 348527	NM_016955.4(SEPSECS):c.*2179T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348528	NM_016955.4(SEPSECS):c.*2123A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 348529	NM_016955.4(SEPSECS):c.*1727G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 900127	NM_016955.4(SEPSECS):c.*1659C>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 900128	NM_016955.4(SEPSECS):c.*1648G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 900129	NM_016955.4(SEPSECS):c.*1637G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348530	NM_016955.4(SEPSECS):c.*1635G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348531	NM_016955.4(SEPSECS):c.*1622T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348532	NM_016955.4(SEPSECS):c.*1620C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348533	NM_016955.4(SEPSECS):c.*1614T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901287	NM_016955.4(SEPSECS):c.*1591G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348534	NM_016955.4(SEPSECS):c.*1574T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901288	NM_016955.4(SEPSECS):c.*1122C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348535	NM_016955.4(SEPSECS):c.*1041T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GLikely benign
Select item 901289	NM_016955.4(SEPSECS):c.*1031G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901290	NM_016955.4(SEPSECS):c.*1008T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348536	NM_016955.4(SEPSECS):c.*807A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 348537	NM_016955.4(SEPSECS):c.*681A>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 348538	NM_016955.4(SEPSECS):c.*638G>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GLikely benign
Select item 348539	NM_016955.4(SEPSECS):c.*612G>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348540	NM_016955.4(SEPSECS):c.*610G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348541	NM_016955.4(SEPSECS):c.*470T>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348542	NM_016955.4(SEPSECS):c.*455C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GLikely benign
Select item 348543	NM_016955.4(SEPSECS):c.*454C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 348544	NM_016955.4(SEPSECS):c.*420G>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348545	NM_016955.4(SEPSECS):c.371_372del	SEPSECS	Deletion (3 prime UTR variant)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 348546	NM_016955.4(SEPSECS):c.*354C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 902750	NM_016955.4(SEPSECS):c.*352A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 902751	NM_016955.4(SEPSECS):c.*328A>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 902752	NM_016955.4(SEPSECS):c.*327G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348547	NM_016955.4(SEPSECS):c.*271G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348548	NM_016955.4(SEPSECS):c.254_257del	SEPSECS	Deletion (3 prime UTR variant)	Pontoneocerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 348549	NM_016955.4(SEPSECS):c.*253A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348550	NM_016955.4(SEPSECS):c.236_237insTTT	SEPSECS	Insertion (3 prime UTR variant)	Pontoneocerebellar hypoplasia +1 more	GLikely benign
Select item 902753	NM_016955.4(SEPSECS):c.*223G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 348551	NM_016955.4(SEPSECS):c.*112T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 989877	NM_016955.4(SEPSECS):c.*6G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 3038102	NM_016955.4(SEPSECS):c.*5C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	SEPSECS-related condition	GLikely benign
Select item 900188	NM_016955.4(SEPSECS):c.1505G>A (p.Ter502=)	SEPSECS	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 1662317	NM_016955.4(SEPSECS):c.1503A>G (p.Ser501=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160069	NM_016955.4(SEPSECS):c.1497T>G (p.Ala499=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1393721	NM_016955.4(SEPSECS):c.1496C>T (p.Ala499Val)	SEPSECS (A499V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792433	NM_016955.4(SEPSECS):c.1485A>G (p.Thr495=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651118	NM_016955.4(SEPSECS):c.1485A>T (p.Thr495=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142832	NM_016955.4(SEPSECS):c.1476T>G (p.Leu492=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 190145	NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val)	SEPSECS (D489V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383633	NM_016955.4(SEPSECS):c.1464A>G (p.Leu488=)	SEPSECS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2031423	NM_016955.4(SEPSECS):c.1462C>T (p.Leu488=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989878	NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn)	SEPSECS (K487N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 1103165	NM_016955.4(SEPSECS):c.1455T>C (p.Ala485=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989879	NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr)	SEPSECS (A485T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 2158795	NM_016955.4(SEPSECS):c.1446A>G (p.Glu482=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1302611	NM_016955.4(SEPSECS):c.1441A>G (p.Ile481Val)	SEPSECS (I481V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1126402	NM_016955.4(SEPSECS):c.1434T>C (p.Asp478=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365704	NM_016955.4(SEPSECS):c.1432G>A (p.Asp478Asn)	SEPSECS (D478N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818731	NM_016955.4(SEPSECS):c.1429G>T (p.Glu477Ter)	SEPSECS (E477* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1669915	NM_016955.4(SEPSECS):c.1419T>C (p.Tyr473=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787641	NM_016955.4(SEPSECS):c.1416T>C (p.Asn472=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421243	NM_016955.4(SEPSECS):c.1406G>A (p.Ser469Asn)	SEPSECS (S469N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858955	NM_016955.4(SEPSECS):c.1400_1401del (p.Lys467fs)	SEPSECS (K467fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 130289	NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln)	SEPSECS (R465Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 632438	NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)	SEPSECS (R465*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 989880	NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter)	SEPSECS (E464*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2145451	NM_016955.4(SEPSECS):c.1385G>C (p.Arg462Thr)	SEPSECS (R462T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 792571	NM_016955.4(SEPSECS):c.1383A>G (p.Val461=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552835	NM_016955.4(SEPSECS):c.1368G>A (p.Arg456=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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