OPRK1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 545368	Single allele	LINC02984, LOC105375836 +19 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 146387	GRCh38/hg38 8q11.23(chr8:52875424-53454793)x3	LOC105375836, LOC126860389 +9 more	Copy number gain	See cases	GUncertain significance
Select item 790058	NM_000912.5(OPRK1):c.1120G>A (p.Asp374Asn)	LOC105375836, OPRK1 (D374N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2349969	NM_000912.5(OPRK1):c.1015C>T (p.Arg339Trp)	LOC105375836, OPRK1 (R250W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204420	NM_000912.5(OPRK1):c.998T>C (p.Leu333Pro)	LOC105375836, OPRK1 (L244P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300518	NM_000912.5(OPRK1):c.959A>G (p.Tyr320Cys)	LOC105375836, OPRK1 (Y320C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790059	NM_000912.5(OPRK1):c.948C>T (p.Ile316=)	LOC105375836, OPRK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558462	NM_000912.5(OPRK1):c.911A>G (p.His304Arg)	LOC105375836, OPRK1 (H215R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716915	NM_000912.5(OPRK1):c.852C>T (p.Val284=)	LOC105375836, OPRK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720427	NM_000912.5(OPRK1):c.765C>T (p.Ser255=)	LOC105375836, OPRK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2239631	NM_000912.5(OPRK1):c.723C>G (p.Ile241Met)	LOC105375836, OPRK1 (I152M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724740	NM_000912.5(OPRK1):c.598A>G (p.Lys200Glu)	OPRK1 (K200E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2269039	NM_000912.5(OPRK1):c.410T>C (p.Ile137Thr)	OPRK1 (I137T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264731	NM_000912.5(OPRK1):c.295T>C (p.Phe99Leu)	OPRK1 (F10L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292965	NM_000912.5(OPRK1):c.260A>G (p.Tyr87Cys)	OPRK1 (Y87C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204419	NM_000912.5(OPRK1):c.218G>C (p.Gly73Ala)	OPRK1 (G73A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612056	NM_000912.5(OPRK1):c.144G>C (p.Gln48His)	OPRK1 (Q48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 758209	NM_000912.5(OPRK1):c.117C>T (p.Asn39=)	OPRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2389561	NM_000912.5(OPRK1):c.95G>T (p.Gly32Val)	OPRK1 (G32V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226074	NM_000912.5(OPRK1):c.71C>G (p.Pro24Arg)	OPRK1 (P24R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250951	NM_000912.5(OPRK1):c.49G>C (p.Ala17Pro)	OPRK1 (A17P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617624	NM_000912.5(OPRK1):c.38G>A (p.Gly13Asp)	OPRK1 (G13D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222338	NM_000912.5(OPRK1):c.35C>T (p.Pro12Leu)	OPRK1 (P12L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 979232	GRCh37/hg19 8q11.23(chr8:52605905-54913501)x3	ALKAL1, ATP6V1H +8 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	SNTG1, SPIDR +20 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442969	GRCh37/hg19 8q11.23(chr8:53716052-54365675)x3	NPBWR1, OPRK1	Copy number gain	See cases	GLikely benign
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic

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Items: 48