ClinVar for Gene (Select 49860) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3269569	NM_016190.3(CRNN):c.320C>G (p.Ser107Cys)	CRNN (S107C)	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 3269567	NM_016190.3(CRNN):c.271G>A (p.Glu91Lys)	CRNN (E91K)	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 3077571	NM_016190.3(CRNN):c.907G>A (p.Glu303Lys)	CRNN (E303K)	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 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 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 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 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 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 2626963	NM_016190.3(CRNN):c.77C>G (p.Thr26Arg)	CRNN (T26R)	Single nucleotide variant (missense variant)	not provided	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 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 2543489	NM_016190.3(CRNN):c.1204G>A (p.Gly402Arg)	CRNN (G402R)	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 2488189	NM_016190.3(CRNN):c.304T>C (p.Ser102Pro)	CRNN (S102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2475857	NM_016190.3(CRNN):c.542C>A (p.Pro181Gln)	CRNN (P181Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2458808	NM_016190.3(CRNN):c.931G>C (p.Gly311Arg)	CRNN (G311R)	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 2408633	NM_016190.3(CRNN):c.52T>A (p.Tyr18Asn)	CRNN (Y18N)	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 2395262	NM_016190.3(CRNN):c.814G>A (p.Gly272Ser)	CRNN (G272S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2394635	NM_016190.3(CRNN):c.1190A>T (p.Glu397Val)	CRNN (E397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2386911	NM_016190.3(CRNN):c.724G>T (p.Val242Leu)	CRNN (V242L)	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 2321180	NM_016190.3(CRNN):c.263C>A (p.Thr88Lys)	CRNN (T88K)	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 2254413	NM_016190.3(CRNN):c.410A>G (p.His137Arg)	CRNN (H137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2240192	NM_016190.3(CRNN):c.323G>T (p.Gly108Val)	CRNN (G108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +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 718737	NM_016190.3(CRNN):c.1104C>T (p.His368=)	CRNN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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

ClinVar

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Germline classification

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Links from Gene

Items: 54