CRIPAK[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 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 155150	GRCh38/hg38 4p16.3(chr4:36424-1562150)x1	ATP5ME, CPLX1 +91 more	Copy number loss	See cases	GUncertain significance
Select item 155105	GRCh38/hg38 4p16.3(chr4:36424-1956092)x1	SLC49A3, SPON2 +124 more	Copy number loss	See cases	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 150615	GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	ADD1, ADRA2C +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991977, LOC129991978 +283 more	Copy number gain	See cases	GPathogenic
Select item 150122	GRCh38/hg38 4p16.3(chr4:36424-3265531)x1	ADD1, ATP5ME +250 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148311	GRCh38/hg38 4p16.3(chr4:36424-1581567)x3	ATP5ME, CPLX1 +95 more	Copy number gain	See cases	GLikely pathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	ADD1, ADRA2C +277 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 147744	GRCh38/hg38 4p16.3(chr4:51519-1405362)x1	ATP5ME, CPLX1 +90 more	Copy number loss	See cases	GPathogenic
Select item 57275	GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	ADD1, ADRA2C +277 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57898	GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	LOC129991962, LOC129991963 +137 more	Copy number loss	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 153530	GRCh38/hg38 4p16.3(chr4:68453-1997458)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 161057	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 more	Copy number loss	See cases	GPathogenic
Select item 155257	GRCh38/hg38 4p16.3(chr4:72555-2689579)x1	LOC129992008, LOC129992009 +175 more	Copy number loss	See cases	GPathogenic
Select item 150613	GRCh38/hg38 4p16.3(chr4:72555-1581567)x1	ATP5ME, CPLX1 +95 more	Copy number loss	See cases	GUncertain significance
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	ADD1, ATP5ME +274 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ATP5ME, CFAP99 +290 more	Copy number loss	See cases	GPathogenic
Select item 147562	GRCh38/hg38 4p16.3(chr4:72555-3561655)x1	ADD1, ATP5ME +271 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	ADD1, ADRA2C +313 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 more	Copy number loss	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 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57933	GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	ADD1, ADRA2C +278 more	Copy number gain	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 57903	GRCh38/hg38 4p16.3(chr4:72555-2325477)x1	ATP5ME, CPLX1 +152 more	Copy number loss	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 57823	GRCh38/hg38 4p16.3(chr4:72555-1405362)x3	ATP5ME, CPLX1 +90 more	Copy number gain	See cases	GUncertain significance
Select item 57159	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 59418	GRCh38/hg38 4p16.3(chr4:85149-2008535)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59417	GRCh38/hg38 4p16.3(chr4:85149-1919505)x1	ATP5ME, CPLX1 +124 more	Copy number loss	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 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	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 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 59419	GRCh38/hg38 4p16.3(chr4:336191-2213205)x1	ATP5ME, CPLX1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146344	GRCh38/hg38 4p16.3(chr4:620566-1405362)x3	ATP5ME, CPLX1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 3269523	NC_000004.12:g.1394525C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3077471	NC_000004.12:g.1394561C>T	CRIPAK, LOC126806945 +1 more (T17M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686362	NC_000004.12:g.1394589_1394590insCACATGCCCATGTGGAGTGCCCGCCTGCTCA	CRIPAK, LOC126806945 +1 more	Insertion	not specified	GBenign
Select item 1686361	NC_000004.12:g.1394562_1394563insCCCATGTGGAGTGCCCGCCTGCTCACACA	CRIPAK, LOC126806945 +1 more	Insertion	not specified	GBenign
Select item 1686360	NC_000004.12:g.1394562G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant	not specified +1 more	GBenign
Select item 1686358	NC_000004.12:g.1394590_1394591insACATGCCCATGTGGAGTGCCCGCCTGCTCAT	CRIPAK, LOC126806945 +1 more	Insertion	not specified	GBenign
Select item 1686359	NC_000004.12:g.1394590_1394680del	CRIPAK, LOC126806945 +1 more	Deletion	not specified	GBenign
Select item 3077475	NC_000004.12:g.1394600T>C	CRIPAK, LOC126806945 +1 more (V30A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464121	NC_000004.12:g.1394609C>T	CRIPAK, LOC126806945 +1 more (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654562	NM_175918.3(CRIPAK):c.115C>T (p.Arg39Ter)	CRIPAK, LOC126806945 +1 more (R39*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 3077460	NC_000004.12:g.1394627G>C	CRIPAK, LOC126806945 +1 more (R39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589601	NC_000004.12:g.1394632G>A	CRIPAK, LOC126806945 +1 more (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077462	NC_000004.12:g.1394671C>T	CRIPAK, LOC126806945 +1 more (R54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353550	NC_000004.12:g.1394672G>A	CRIPAK, LOC126806945 +1 more (R54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269532	NC_000004.12:g.1394701C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3077463	NC_000004.12:g.1394704C>T	CRIPAK, LOC126806945 +1 more (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325784	NC_000004.12:g.1394717G>A	CRIPAK, LOC126806945 +1 more (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370950	NC_000004.12:g.1394740G>A	CRIPAK, LOC126806945 +1 more (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654563	NM_175918.3(CRIPAK):c.240C>G (p.Pro80=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2473597	NC_000004.12:g.1394765A>G	CRIPAK, LOC126806945 +1 more (H85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077464	NC_000004.12:g.1394776T>G	CRIPAK, LOC126806945 +1 more (C89G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375315	NC_000004.12:g.1394776T>C	CRIPAK, LOC126806945 +1 more (C89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514536	NC_000004.12:g.1394782G>A	CRIPAK, LOC126806945 +1 more (D91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457342	NC_000004.12:g.1394782G>C	CRIPAK, LOC126806945 +1 more (D91H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269521	NC_000004.12:g.1394794C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 2206758	NC_000004.12:g.1394818T>C	CRIPAK, LOC126806945 +1 more (W103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654564	NM_175918.3(CRIPAK):c.327G>A (p.Thr109=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2520413	NC_000004.12:g.1394845T>C	CRIPAK, LOC126806945 +1 more (C112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077465	NC_000004.12:g.1394873C>T	CRIPAK, LOC126806945 +1 more (P121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613526	NC_000004.12:g.1394882G>A	CRIPAK, LOC126806945 +1 more (S124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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