CCKAR[gene] - ClinVar

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Items: 61

	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 3139687	NM_000730.3(CCKAR):c.1262T>A (p.Met421Lys)	CCKAR (M421K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556335	NM_000730.3(CCKAR):c.1202G>A (p.Gly401Glu)	CCKAR (G401E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269096	NM_000730.3(CCKAR):c.1099C>A (p.Pro367Thr)	CCKAR (P367T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 17530	NM_000730.3(CCKAR):c.1093G>A (p.Val365Ile)	CCKAR (V365I)	Single nucleotide variant (missense variant)	CHOLECYSTOKININ A RECEPTOR POLYMORPHISM	GBenign
Select item 2484959	NM_000730.3(CCKAR):c.1085C>A (p.Ser362Tyr)	CCKAR (S362Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593616	NM_000730.3(CCKAR):c.1034G>A (p.Arg345His)	CCKAR (R345H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405883	NM_000730.3(CCKAR):c.1021G>A (p.Ala341Thr)	CCKAR (A341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139694	NM_000730.3(CCKAR):c.999C>A (p.Asn333Lys)	CCKAR (N333K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139693	NM_000730.3(CCKAR):c.994G>A (p.Ala332Thr)	CCKAR (A332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603886	NM_000730.3(CCKAR):c.979A>G (p.Met327Val)	CCKAR (M327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369454	NM_000730.3(CCKAR):c.893G>T (p.Ser298Ile)	CCKAR (S298I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351745	NM_000730.3(CCKAR):c.799G>A (p.Asp267Asn)	CCKAR (D267N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139692	NM_000730.3(CCKAR):c.796A>T (p.Ser266Cys)	CCKAR (S266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455697	NM_000730.3(CCKAR):c.796A>G (p.Ser266Gly)	CCKAR (S266G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320519	NM_000730.3(CCKAR):c.694A>G (p.Ile232Val)	CCKAR (I232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759868	NM_000730.3(CCKAR):c.651C>T (p.Leu217=)	CCKAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2260516	NM_000730.3(CCKAR):c.632C>G (p.Thr211Arg)	CCKAR (T211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390567	NM_000730.3(CCKAR):c.575C>T (p.Thr192Ile)	CCKAR (T192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292867	NM_000730.3(CCKAR):c.570C>A (p.Asn190Lys)	CCKAR (N190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352447	NM_000730.3(CCKAR):c.524C>T (p.Pro175Leu)	CCKAR (P175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139691	NM_000730.3(CCKAR):c.449G>C (p.Arg150Pro)	CCKAR (R150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207667	NM_000730.3(CCKAR):c.425C>T (p.Ala142Val)	CCKAR (A142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616984	NM_000730.3(CCKAR):c.379G>A (p.Val127Ile)	CCKAR (V127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139690	NM_000730.3(CCKAR):c.353C>T (p.Thr118Ile)	CCKAR (T118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139689	NM_000730.3(CCKAR):c.284T>C (p.Met95Thr)	CCKAR (M95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139688	NM_000730.3(CCKAR):c.163A>G (p.Ser55Gly)	CCKAR (S55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139686	NM_000730.3(CCKAR):c.109A>G (p.Lys37Glu)	CCKAR (K37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286523	NM_000730.3(CCKAR):c.68A>G (p.Glu23Gly)	CCKAR (E23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 17529	NM_000730.3(CCKAR):c.61G>C (p.Gly21Arg)	CCKAR (G21R)	Single nucleotide variant (missense variant)	CHOLECYSTOKININ A RECEPTOR POLYMORPHISM	GBenign
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527079	GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)	ANAPC4, CCDC149 +15 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527077	GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)	ADGRA3, ANAPC4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	CRMP1, RNF212 +161 more	Copy number gain	not provided	GPathogenic
Select item 980665	GRCh37/hg19 4p15.2(chr4:26326650-27059065)x3	CCKAR, RBPJ +2 more	Copy number gain	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814537	GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1	ADGRA3, ANAPC4 +19 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 625699	GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	ADGRA3, ANAPC4 +42 more	Copy number loss	not provided	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253450	GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1	ZCCHC4, RBPJ +14 more	Copy number loss	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic

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Items: 61