CNR2[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2454897	NM_001841.3(CNR2):c.1024G>T (p.Ala342Ser)	CNR2 (A342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478401	NM_001841.3(CNR2):c.1001G>T (p.Arg334Ile)	CNR2 (R334I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546144	NM_001841.3(CNR2):c.983C>T (p.Ala328Val)	CNR2 (A328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214169	NM_001841.3(CNR2):c.957G>C (p.Lys319Asn)	CNR2 (K319N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756679	NM_001841.3(CNR2):c.939C>T (p.Cys313=)	CNR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2234993	NM_001841.3(CNR2):c.905G>A (p.Arg302Gln)	CNR2 (R302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386137	NM_001841.3(CNR2):c.595G>A (p.Ala199Thr)	CNR2 (A199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146665	NM_001841.3(CNR2):c.557T>A (p.Ile186Asn)	CNR2 (I186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146664	NM_001841.3(CNR2):c.475G>T (p.Val159Phe)	CNR2 (V159F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146663	NM_001841.3(CNR2):c.330T>G (p.Ile110Met)	CNR2 (I110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268250	NM_001841.3(CNR2):c.329T>C (p.Ile110Thr)	CNR2 (I110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737245	NM_001841.3(CNR2):c.291C>T (p.Phe97=)	CNR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2536868	NM_001841.3(CNR2):c.217A>T (p.Ile73Phe)	CNR2 (I73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376186	NM_001841.3(CNR2):c.208T>C (p.Tyr70His)	CNR2 (Y70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785933	NM_001841.3(CNR2):c.197G>A (p.Arg66Gln)	CNR2 (R66Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2226256	NM_001841.3(CNR2):c.181T>C (p.Ser61Pro)	CNR2 (S61P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362309	NM_001841.3(CNR2):c.122C>T (p.Thr41Ile)	CNR2 (T41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382015	NM_001841.3(CNR2):c.89G>A (p.Gly30Asp)	CNR2 (G30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146666	NM_001841.3(CNR2):c.66G>A (p.Met22Ile)	CNR2 (M22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389390	NM_001841.3(CNR2):c.64A>G (p.Met22Val)	CNR2 (M22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618382	NM_001841.3(CNR2):c.60C>A (p.Asn20Lys)	CNR2 (N20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349104	NM_001841.3(CNR2):c.43G>T (p.Asp15Tyr)	CNR2 (D15Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551734	NM_001841.3(CNR2):c.38C>G (p.Ser13Cys)	CNR2 (S13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250587	NM_001841.3(CNR2):c.38C>T (p.Ser13Phe)	CNR2 (S13F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247719	NC_000001.10:g.(?_23395012)_(24673151_?)del	ASAP3, CNR2 +22 more	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1809397	GRCh37/hg19 1p36.11(chr1:24111388-24686443)x3	CNR2, FUCA1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1809272	GRCh37/hg19 1p36.11(chr1:24111522-24614856)x3	CNR2, FUCA1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808636	GRCh37/hg19 1p36.12-36.11(chr1:23680995-24224241)x3	ASAP3, CNR2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	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 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 35