CYB5D2[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 151168	GRCh38/hg38 17p13.2(chr17:3782655-4472701)x3	ANKFY1, ATP2A3 +50 more	Copy number gain	See cases	GUncertain significance
Select item 153733	GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3	ALOX15, ANKFY1 +42 more	Copy number gain	See cases	GLikely benign
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 145539	GRCh38/hg38 17p13.2(chr17:4044302-4616762)x3	ANKFY1, CYB5D2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 144280	GRCh38/hg38 17p13.2(chr17:4087381-4265640)x3	ANKFY1, CYB5D2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 148440	GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1	ALOX15, ANKFY1 +57 more	Copy number loss	See cases	GUncertain significance
Select item 60101	GRCh38/hg38 17p13.2(chr17:4141725-4472701)x3	ANKFY1, CYB5D2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2293859	NM_144611.4(CYB5D2):c.19C>T (p.Arg7Cys)	CYB5D2 (R7C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471126	NM_144611.4(CYB5D2):c.53C>T (p.Ala18Val)	CYB5D2 (A18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510184	NM_144611.4(CYB5D2):c.56C>T (p.Ala19Val)	CYB5D2 (A19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318378	NM_144611.4(CYB5D2):c.88G>A (p.Gly30Ser)	CYB5D2 (G30S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3079267	NM_144611.4(CYB5D2):c.154G>C (p.Asp52His)	CYB5D2 (D52H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270450	NM_144611.4(CYB5D2):c.157C>T (p.Pro53Ser)	CYB5D2 (P53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236305	NM_144611.4(CYB5D2):c.185G>T (p.Arg62Leu)	CYB5D2 (R62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489962	NM_144611.4(CYB5D2):c.236A>G (p.Tyr79Cys)	CYB5D2 (Y79C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321683	NM_144611.4(CYB5D2):c.269C>T (p.Ala90Val)	CYB5D2 (A90V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2295000	NM_144611.4(CYB5D2):c.274G>C (p.Val92Leu)	CYB5D2 (V92L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377318	NM_144611.4(CYB5D2):c.313G>T (p.Val105Leu)	CYB5D2 (V105L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3270451	NM_144611.4(CYB5D2):c.321C>G (p.Asp107Glu)	CYB5D2 (D107E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2608475	NM_144611.4(CYB5D2):c.321C>A (p.Asp107Glu)	CYB5D2 (D107E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3270447	NM_144611.4(CYB5D2):c.332C>A (p.Ala111Asp)	CYB5D2 (A111D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209604	NM_144611.4(CYB5D2):c.388G>T (p.Val130Phe)	CYB5D2 (V130F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482943	NM_144611.4(CYB5D2):c.392G>C (p.Gly131Ala)	CYB5D2 (G131A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265768	NM_144611.4(CYB5D2):c.407G>A (p.Arg136Gln)	CYB5D2 (R136Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079268	NM_144611.4(CYB5D2):c.437C>T (p.Pro146Leu)	CYB5D2 (P146L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543879	NM_144611.4(CYB5D2):c.451G>A (p.Val151Ile)	CYB5D2 (V151I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460075	NM_144611.4(CYB5D2):c.486C>A (p.Asn162Lys)	CYB5D2 (N162K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079269	NM_144611.4(CYB5D2):c.512C>T (p.Thr171Ile)	CYB5D2 (T171I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270453	NM_144611.4(CYB5D2):c.674C>T (p.Pro225Leu)	CYB5D2 (P113L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270452	NM_144611.4(CYB5D2):c.676C>A (p.Pro226Thr)	CYB5D2 (P114T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526213	NM_144611.4(CYB5D2):c.708C>G (p.His236Gln)	CYB5D2 (H236Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613529	NM_144611.4(CYB5D2):c.723C>A (p.Asp241Glu)	CYB5D2 (D241E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232360	NM_144611.4(CYB5D2):c.730C>T (p.His244Tyr)	CYB5D2 (H132Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378652	NM_144611.4(CYB5D2):c.764C>T (p.Pro255Leu)	CYB5D2 (P143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 1809498	GRCh37/hg19 17p13.2(chr17:3955602-4198363)x3	ANKFY1, CYB5D2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340236	GRCh37/hg19 17p13.2(chr17:4026962-4392669)x3	ANKFY1, CYB5D2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1339844	GRCh37/hg19 17p13.2(chr17:3995902-4511207)x3	ANKFY1, CYB5D2 +7 more	Copy number gain	not provided	Gnot provided
Select item 980144	GRCh37/hg19 17p13.2(chr17:4026961-4330947)x3	UBE2G1, ZZEF1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815896	GRCh37/hg19 17p13.2(chr17:3933998-4581861)x3	GGT6, MYBBP1A +9 more	Copy number gain	not provided	GUncertain significance
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 687161	GRCh37/hg19 17p13.2(chr17:3785678-4162530)x3	ANKFY1, ATP2A3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686575	GRCh37/hg19 17p13.2(chr17:3961616-4525393)x3	ANKFY1, CYB5D2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564391	GRCh37/hg19 17p13.2(chr17:3737355-4266446)x3	CYB5D2, NCBP3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic

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Items: 72