NPBWR2[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 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 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +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 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 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 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	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 147280	GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1	C20orf204, LKAAEAR1 +31 more	Copy number loss	See cases	GPathogenic
Select item 3300741	NM_005286.4(NPBWR2):c.982C>T (p.Arg328Cys)	NPBWR2 (R328C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201574	NM_005286.4(NPBWR2):c.949G>A (p.Ala317Thr)	NPBWR2 (A317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357421	NM_005286.4(NPBWR2):c.901A>G (p.Ile301Val)	NPBWR2 (I301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286595	NM_005286.4(NPBWR2):c.887G>A (p.Ser296Asn)	NPBWR2 (S296N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254189	NM_005286.4(NPBWR2):c.880G>A (p.Val294Ile)	NPBWR2 (V294I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201572	NM_005286.4(NPBWR2):c.857C>T (p.Thr286Met)	NPBWR2 (T286M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341789	NM_005286.4(NPBWR2):c.844G>A (p.Val282Met)	NPBWR2 (V282M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201571	NM_005286.4(NPBWR2):c.821C>T (p.Thr274Met)	NPBWR2 (T274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375573	NM_005286.4(NPBWR2):c.793G>A (p.Val265Met)	NPBWR2 (V265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300743	NM_005286.4(NPBWR2):c.784G>A (p.Val262Ile)	NPBWR2 (V262I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201570	NM_005286.4(NPBWR2):c.719G>A (p.Arg240Gln)	NPBWR2 (R240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595940	NM_005286.4(NPBWR2):c.703C>T (p.Leu235Phe)	NPBWR2 (L235F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201569	NM_005286.4(NPBWR2):c.702C>A (p.Asp234Glu)	NPBWR2 (D234E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201567	NM_005286.4(NPBWR2):c.674T>C (p.Val225Ala)	NPBWR2 (V225A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242764	NM_005286.4(NPBWR2):c.610C>T (p.Pro204Ser)	NPBWR2 (P204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201566	NM_005286.4(NPBWR2):c.599G>A (p.Ser200Asn)	NPBWR2 (S200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534759	NM_005286.4(NPBWR2):c.572A>G (p.Glu191Gly)	NPBWR2 (E191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300744	NM_005286.4(NPBWR2):c.553G>T (p.Ala185Ser)	NPBWR2 (A185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393205	NM_005286.4(NPBWR2):c.484G>A (p.Gly162Arg)	NPBWR2 (G162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201565	NM_005286.4(NPBWR2):c.481C>T (p.Arg161Trp)	NPBWR2 (R161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296156	NM_005286.4(NPBWR2):c.400T>C (p.Phe134Leu)	NPBWR2 (F134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360317	NM_005286.4(NPBWR2):c.367G>A (p.Val123Ile)	NPBWR2 (V123I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300745	NM_005286.4(NPBWR2):c.338G>A (p.Gly113Glu)	NPBWR2 (G113E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300742	NM_005286.4(NPBWR2):c.307G>A (p.Ala103Thr)	NPBWR2 (A103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548919	NM_005286.4(NPBWR2):c.290T>A (p.Val97Glu)	NPBWR2 (V97E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247930	NM_005286.4(NPBWR2):c.284C>T (p.Thr95Met)	NPBWR2 (T95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201564	NM_005286.4(NPBWR2):c.191C>T (p.Thr64Met)	NPBWR2 (T64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531217	NM_005286.4(NPBWR2):c.160G>A (p.Gly54Arg)	NPBWR2 (G54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607457	NM_005286.4(NPBWR2):c.151G>A (p.Val51Met)	NPBWR2 (V51M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201563	NM_005286.4(NPBWR2):c.119C>T (p.Pro40Leu)	NPBWR2 (P40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510466	NM_005286.4(NPBWR2):c.115G>A (p.Glu39Lys)	NPBWR2 (E39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594576	NM_005286.4(NPBWR2):c.107C>T (p.Thr36Ile)	NPBWR2 (T36I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201568	NM_005286.4(NPBWR2):c.68C>T (p.Ala23Val)	NPBWR2 (A23V)	Single nucleotide variant (missense variant)	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 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	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)	HELZ2, DIDO1 +51 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	PCMTD2, SAMD10 +47 more	Copy number loss	Seizures, benign familial neonatal, 1 +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	AAR2, ABHD12 +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 395261	GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1	ARFGAP1, ARFRP1 +35 more	Copy number loss	See cases	GPathogenic
Select item 393857	GRCh37/hg19 20q13.33(chr20:62731576-62907467)x3	MYT1, NPBWR2 +2 more	Copy number gain	See cases	GBenign
Select item 253445	GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	PPDPF, OPRL1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 77