CRNN[gene] - ClinVar

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

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 154029	GRCh38/hg38 1q21.3(chr1:152267710-152436835)x1	CCDST, CRNN +2 more	Copy number loss	See cases	GUncertain significance
Select item 149775	GRCh38/hg38 1q21.3(chr1:152365299-152618044)x3	CCDST, CRCT1 +8 more	Copy number gain	See cases	GLikely benign
Select item 2481765	NM_016190.3(CRNN):c.1481A>G (p.Lys494Arg)	CRNN (K494R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472217	NM_016190.3(CRNN):c.1463C>G (p.Ser488Cys)	CRNN (S488C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077564	NM_016190.3(CRNN):c.1436G>A (p.Arg479Gln)	CRNN (R479Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077563	NM_016190.3(CRNN):c.1429G>A (p.Glu477Lys)	CRNN (E477K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367532	NM_016190.3(CRNN):c.1235C>T (p.Ser412Leu)	CRNN (S412L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543489	NM_016190.3(CRNN):c.1204G>A (p.Gly402Arg)	CRNN (G402R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394635	NM_016190.3(CRNN):c.1190A>T (p.Glu397Val)	CRNN (E397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077561	NM_016190.3(CRNN):c.1157G>A (p.Arg386Lys)	CRNN (R386K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077560	NM_016190.3(CRNN):c.1111G>A (p.Ala371Thr)	CRNN (A371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405998	NM_016190.3(CRNN):c.1105G>A (p.Gly369Arg)	CRNN (G369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718737	NM_016190.3(CRNN):c.1104C>T (p.His368=)	CRNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2242413	NM_016190.3(CRNN):c.1016G>A (p.Ser339Asn)	CRNN (S339N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269568	NM_016190.3(CRNN):c.1001G>T (p.Gly334Val)	CRNN (G334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077572	NM_016190.3(CRNN):c.938C>T (p.Thr313Ile)	CRNN (T313I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458808	NM_016190.3(CRNN):c.931G>C (p.Gly311Arg)	CRNN (G311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077571	NM_016190.3(CRNN):c.907G>A (p.Glu303Lys)	CRNN (E303K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395262	NM_016190.3(CRNN):c.814G>A (p.Gly272Ser)	CRNN (G272S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386911	NM_016190.3(CRNN):c.724G>T (p.Val242Leu)	CRNN (V242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624053	NM_016190.3(CRNN):c.710G>C (p.Gly237Ala)	CRNN (G237A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394636	NM_016190.3(CRNN):c.677C>T (p.Thr226Ile)	CRNN (T226I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077570	NM_016190.3(CRNN):c.673G>A (p.Glu225Lys)	CRNN (E225K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297912	NM_016190.3(CRNN):c.649C>G (p.Gln217Glu)	CRNN (Q217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512139	NM_016190.3(CRNN):c.622C>A (p.Pro208Thr)	CRNN (P208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475857	NM_016190.3(CRNN):c.542C>A (p.Pro181Gln)	CRNN (P181Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392043	NM_016190.3(CRNN):c.439C>A (p.Gln147Lys)	CRNN (Q147K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254413	NM_016190.3(CRNN):c.410A>G (p.His137Arg)	CRNN (H137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269571	NM_016190.3(CRNN):c.326C>A (p.Ala109Asp)	CRNN (A109D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240192	NM_016190.3(CRNN):c.323G>T (p.Gly108Val)	CRNN (G108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269569	NM_016190.3(CRNN):c.320C>G (p.Ser107Cys)	CRNN (S107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077568	NM_016190.3(CRNN):c.314T>C (p.Leu105Pro)	CRNN (L105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077567	NM_016190.3(CRNN):c.308G>A (p.Gly103Glu)	CRNN (G103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488189	NM_016190.3(CRNN):c.304T>C (p.Ser102Pro)	CRNN (S102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458631	NM_016190.3(CRNN):c.292G>A (p.Gly98Ser)	CRNN (G98S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3269567	NM_016190.3(CRNN):c.271G>A (p.Glu91Lys)	CRNN (E91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321180	NM_016190.3(CRNN):c.263C>A (p.Thr88Lys)	CRNN (T88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077566	NM_016190.3(CRNN):c.196A>G (p.Thr66Ala)	CRNN (T66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077565	NM_016190.3(CRNN):c.184G>C (p.Asp62His)	CRNN (D62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626963	NM_016190.3(CRNN):c.77C>G (p.Thr26Arg)	CRNN (T26R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2408633	NM_016190.3(CRNN):c.52T>A (p.Tyr18Asn)	CRNN (Y18N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	HCN3, HDGF +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 443875	GRCh37/hg19 1q21.3(chr1:152250211-152402521)x1	CRNN, FLG +1 more	Copy number loss	See cases	GUncertain significance
Select item 443154	GRCh37/hg19 1q21.3(chr1:152250211-152409311)x1	CRNN, FLG +1 more	Copy number loss	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441776	GRCh37/hg19 1q21.3(chr1:152248315-152409311)x1	CRNN, FLG +1 more	Copy number loss	See cases	GUncertain significance
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54