CYB5R2[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CRACR2B, IGF2-AS +917 more	Copy number gain	See cases	GPathogenic
Select item 150272	GRCh38/hg38 11p15.4(chr11:7187414-7707594)x3	CYB5R2, LOC113939928 +34 more	Copy number gain	See cases	GUncertain significance
Select item 147601	GRCh38/hg38 11p15.4(chr11:7665298-7796490)x1	CYB5R2, LOC126861129 +8 more	Copy number loss	See cases	GBenign
Select item 3270461	NM_016229.5(CYB5R2):c.778C>T (p.His260Tyr)	CYB5R2, PPFIBP2 (H260Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384580	NM_016229.5(CYB5R2):c.757C>G (p.Pro253Ala)	CYB5R2, PPFIBP2 (P253A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382689	NM_016229.5(CYB5R2):c.752C>T (p.Pro251Leu)	CYB5R2, PPFIBP2 (P251L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253404	NM_016229.5(CYB5R2):c.722C>T (p.Ala241Val)	CYB5R2, PPFIBP2 (A241V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482988	NM_016229.5(CYB5R2):c.709C>G (p.Leu237Val)	CYB5R2, PPFIBP2 (L237V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079277	NM_016229.5(CYB5R2):c.698T>A (p.Ile233Asn)	CYB5R2, PPFIBP2 (I233N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387144	NM_016229.5(CYB5R2):c.688G>A (p.Ala230Thr)	CYB5R2, PPFIBP2 (A230T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330134	NM_016229.5(CYB5R2):c.686C>T (p.Thr229Ile)	CYB5R2, PPFIBP2 (T229I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079276	NM_016229.5(CYB5R2):c.663G>C (p.Trp221Cys)	CYB5R2, PPFIBP2 (G220A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270458	NM_016229.5(CYB5R2):c.655A>G (p.Ile219Val)	CYB5R2, PPFIBP2 (I219V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2274876	NM_016229.5(CYB5R2):c.616G>A (p.Asp206Asn)	CYB5R2, PPFIBP2 (D206N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356873	NM_016229.5(CYB5R2):c.602C>T (p.Ala201Val)	CYB5R2, PPFIBP2 (P200S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300070	NM_016229.5(CYB5R2):c.581G>A (p.Arg194Lys)	CYB5R2, PPFIBP2 (E193K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270459	NM_016229.5(CYB5R2):c.577G>C (p.Val193Leu)	CYB5R2, PPFIBP2 (V193L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599854	NM_016229.5(CYB5R2):c.515A>G (p.Asp172Gly)	CYB5R2 (D172G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549306	NM_016229.5(CYB5R2):c.466G>A (p.Gly156Ser)	CYB5R2 (G156S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526460	NM_016229.5(CYB5R2):c.415A>G (p.Thr139Ala)	CYB5R2 (T139A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358452	NM_016229.5(CYB5R2):c.367C>T (p.Arg123Cys)	CYB5R2 (R123C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325434	NM_016229.5(CYB5R2):c.358C>A (p.Pro120Thr)	CYB5R2 (P120T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267155	NM_016229.5(CYB5R2):c.355G>A (p.Gly119Arg)	CYB5R2 (G119R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270457	NM_016229.5(CYB5R2):c.349T>C (p.Phe117Leu)	CYB5R2 (F117L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276471	NM_016229.5(CYB5R2):c.335G>C (p.Gly112Ala)	CYB5R2 (G112A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276674	NM_016229.5(CYB5R2):c.329A>G (p.Lys110Arg)	CYB5R2 (K110R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079273	NM_016229.5(CYB5R2):c.118C>G (p.Pro40Ala)	CYB5R2 (P40A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079275	NM_016229.5(CYB5R2):c.38A>T (p.Asp13Val)	CYB5R2 (D13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079274	NM_016229.5(CYB5R2):c.29C>A (p.Thr10Asn)	CYB5R2 (T10N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222224	NM_016229.5(CYB5R2):c.25A>G (p.Ile9Val)	CYB5R2 (I9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	DNHD1, DRD4 +308 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815407	GRCh37/hg19 11p15.4(chr11:7679492-7774741)x1	CYB5R2, OVCH2	Copy number loss	not provided	GUncertain significance
Select item 815406	GRCh37/hg19 11p15.4(chr11:7670248-7797257)x1	OVCH2, PPFIBP2 +1 more	Copy number loss	not provided	GLikely benign
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ARL14EP, ART1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	IFITM3, IFITM5 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563863	GRCh37/hg19 11p15.4(chr11:7418934-8308834)x3	OR10A6, OR5P2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	HBG1, HBG2 +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	GAL3ST3, GALNT18 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	MRGPRX3, MRGPRX4 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	AMPD3, ANO5 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	BDNF-AS, BMAL1 +364 more	Copy number gain	See cases	GPathogenic

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Items: 48