CNR1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 745913	NM_016083.6(CNR1):c.1401G>A (p.Thr467=)	CNR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146660	NM_016083.6(CNR1):c.1336G>A (p.Ala446Thr)	CNR1 (A446T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593617	NM_016083.6(CNR1):c.1325T>G (p.Val442Gly)	CNR1 (V409G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 766141	NM_016083.6(CNR1):c.1131G>T (p.Thr377=)	CNR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236357	NM_016083.6(CNR1):c.1129A>G (p.Thr377Ala)	CNR1 (T344A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745121	NM_016083.6(CNR1):c.1092G>A (p.Val364=)	CNR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146659	NM_016083.6(CNR1):c.1052T>C (p.Val351Ala)	CNR1 (V351A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146658	NM_016083.6(CNR1):c.1051G>T (p.Val351Leu)	CNR1 (V318L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034632	NM_016083.6(CNR1):c.915C>G (p.Ala305=)	CNR1	Single nucleotide variant (synonymous variant)	CNR1-related disorder	GLikely benign
Select item 771863	NM_016083.6(CNR1):c.912C>T (p.His304=)	CNR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2463199	NM_016083.6(CNR1):c.871G>C (p.Val291Leu)	CNR1 (V258L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037397	NM_016083.6(CNR1):c.744C>T (p.Ala248=)	CNR1	Single nucleotide variant (synonymous variant)	CNR1-related disorder	GLikely benign
Select item 792185	NM_016083.6(CNR1):c.681T>A (p.Ile227=)	CNR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746272	NM_016083.6(CNR1):c.480G>A (p.Ala160=)	CNR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146662	NM_016083.6(CNR1):c.469G>A (p.Gly157Ser)	CNR1 (G124S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224832	NM_016083.6(CNR1):c.433C>A (p.Arg145Ser)	CNR1 (R112S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764631	NM_016083.6(CNR1):c.261G>A (p.Ser87=)	CNR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543710	NM_016083.6(CNR1):c.256C>T (p.Leu86Phe)	CNR1 (L53F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547416	NM_016083.6(CNR1):c.191C>T (p.Ala64Val)	CNR1 (A31V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146661	NM_016083.6(CNR1):c.185T>C (p.Met62Thr)	CNR1 (M29T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473391	NM_016083.6(CNR1):c.111G>A (p.Met37Ile)	CNR1 (M37I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053090	NM_016083.6(CNR1):c.30T>C (p.Asp10=)	CNR1	Single nucleotide variant (synonymous variant)	CNR1-related disorder	GLikely benign
Select item 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 816499	GRCh37/hg19 6q15(chr6:88412786-89246061)x3	CNR1, SPACA1	Copy number gain	See cases	GUncertain significance
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 689259	GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3	ANKRD6, BACH2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688276	GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1	AKIRIN2, ANKRD6 +26 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 40