ClinVar for Gene (Select 198437) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3119135	NM_001353425.2(LKAAEAR1):c.503C>T (p.Pro168Leu)	LKAAEAR1, OPRL1 (P168L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119134	NM_001353425.2(LKAAEAR1):c.434A>G (p.Gln145Arg)	LKAAEAR1, OPRL1 (Q145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119133	NM_001353425.2(LKAAEAR1):c.310G>A (p.Ala104Thr)	LKAAEAR1, OPRL1 (A104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119132	NM_001353425.2(LKAAEAR1):c.274G>A (p.Asp92Asn)	LKAAEAR1, OPRL1 (D92N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119131	NM_001353425.2(LKAAEAR1):c.155C>T (p.Ala52Val)	LKAAEAR1, OPRL1 (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685653	GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1	ABHD16B, DNAJC5 +17 more	Copy number loss	not provided	GUncertain significance
Select item 2621366	NM_001353425.2(LKAAEAR1):c.525+17G>C	LKAAEAR1, OPRL1 (G181A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613601	NM_001353425.2(LKAAEAR1):c.*12A>C	LKAAEAR1, OPRL1 (S229R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612648	NM_001353425.2(LKAAEAR1):c.523G>A (p.Glu175Lys)	LKAAEAR1, OPRL1 (E175K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606084	NM_001353425.2(LKAAEAR1):c.411G>C (p.Glu137Asp)	LKAAEAR1, OPRL1 (E137D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604425	NM_001353425.2(LKAAEAR1):c.257C>T (p.Pro86Leu)	LKAAEAR1, OPRL1 (P86L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2599214	NM_001353425.2(LKAAEAR1):c.266G>T (p.Arg89Leu)	LKAAEAR1, OPRL1 (R89L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2389483	NM_001353425.2(LKAAEAR1):c.525+19A>G	LKAAEAR1, OPRL1 (R182G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377283	NM_001353425.2(LKAAEAR1):c.424A>T (p.Ile142Phe)	LKAAEAR1, OPRL1 (I142F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358663	NM_001353425.2(LKAAEAR1):c.452C>A (p.Ala151Asp)	LKAAEAR1, OPRL1 (A151D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357335	NM_001353425.2(LKAAEAR1):c.115C>T (p.Pro39Ser)	LKAAEAR1, OPRL1 (P39S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355415	NM_001353425.2(LKAAEAR1):c.*11G>C	LKAAEAR1, OPRL1 (E228D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351165	NM_001353425.2(LKAAEAR1):c.525+14C>T	LKAAEAR1, OPRL1 (P180L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262211	NM_001353425.2(LKAAEAR1):c.298C>A (p.Leu100Ile)	LKAAEAR1, OPRL1 (L100I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224211	NM_001353425.2(LKAAEAR1):c.227C>A (p.Ala76Asp)	LKAAEAR1, OPRL1 (A76D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526699	GRCh37/hg19 20q13.33(chr20:61619222-62915555)	ABHD16B, ARFGAP1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340670	GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	not provided	GPathogenic
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	SLC17A9, ZGPAT +51 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	HAR1A, HAR1B +47 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 979739	GRCh37/hg19 20q13.33(chr20:62576747-62915555)x3	PRPF6, TCEA2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 979738	GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1	ARFRP1, DNAJC5 +30 more	Copy number loss	not provided	GPathogenic
Select item 816139	GRCh37/hg19 20q13.33(chr20:62678394-62884479)x3	LKAAEAR1, MYT1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 816137	GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	ABHD16B, ARFGAP1 +49 more	Copy number loss	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 564637	GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1	SOX18, GMEB2 +29 more	Copy number loss	not provided	GPathogenic
Select item 564634	GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1	PCMTD2, ZGPAT +29 more	Copy number loss	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442701	GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1	ABHD16B, ARFGAP1 +33 more	Copy number loss	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 441693	GRCh37/hg19 20q13.33(chr20:62603908-62857300)x1	LKAAEAR1, MYT1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 425532	GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	COL9A3, DIDO1 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 395262	GRCh37/hg19 20q13.33(chr20:62662139-62714797)x1	LKAAEAR1, OPRL1 +4 more	Copy number loss	See cases	GLikely pathogenic
Select item 395261	GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	See cases	GPathogenic
Select item 253445	GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	PPDPF, OPRL1 +35 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	ABHD16B, ADRM1 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066340, LOC130066341 +244 more	Copy number loss	See cases	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	ABHD16B, ARFGAP1 +181 more	Copy number loss	See cases	GPathogenic
Select item 147280	GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1	C20orf204, LKAAEAR1 +31 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC132090595, LOC132090596 +355 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	LOC130066394, LOC130066395 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 57315	GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3	ABHD16B, C20orf181 +63 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 63