"GeneDx"[submitter] AND "CYB5R3"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 1271243	NM_000398.7(CYB5R3):c.*287C>A	CYB5R3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1284044	NM_000398.7(CYB5R3):c.*63A>G	CYB5R3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1310279	NM_000398.7(CYB5R3):c.871G>A (p.Val291Met)	CYB5R3 (V268M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237214	NM_000398.7(CYB5R3):c.733+259T>C	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245360	NM_000398.7(CYB5R3):c.733+233A>G	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257257	NM_000398.7(CYB5R3):c.733+163G>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267912	NM_000398.7(CYB5R3):c.634-273G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236685	NM_000398.7(CYB5R3):c.634-275G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258206	NM_000398.7(CYB5R3):c.547+84C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275233	NM_000398.7(CYB5R3):c.547+76T>C	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429233	NM_000398.7(CYB5R3):c.535G>C (p.Ala179Pro)	CYB5R3 (A179P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 248	NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter)	CYB5R3 (R160* +2 more)	Single nucleotide variant (nonsense)	Deficiency of cytochrome-b5 reductase +1 more	GPathogenic
Select item 245	NM_000398.7(CYB5R3):c.464-2A>C	CYB5R3	Single nucleotide variant (splice acceptor variant)	Deficiency of cytochrome-b5 reductase +1 more	GPathogenic/Likely pathogenic
Select item 1285988	NM_000398.7(CYB5R3):c.463+219C>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260522	NM_000398.7(CYB5R3):c.463+178C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369948	NM_000398.7(CYB5R3):c.403C>G (p.Gln135Glu)	CYB5R3 (Q112E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 244	NM_000398.7(CYB5R3):c.350C>G (p.Thr117Ser)	CYB5R3 (T117S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1181449	NM_000398.7(CYB5R3):c.334-123G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241993	NM_000398.7(CYB5R3):c.333+272G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262693	NM_000398.7(CYB5R3):c.333+198C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290407	NM_000398.7(CYB5R3):c.333+96T>C	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 431812	NM_000398.7(CYB5R3):c.250C>T (p.Arg84Ter)	CYB5R3 (R84* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 247	NM_000398.7(CYB5R3):c.229C>T (p.Gln77Ter)	CYB5R3 (Q77* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1223899	NM_000398.7(CYB5R3):c.226+28C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268296	NM_000398.7(CYB5R3):c.154-174G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256863	NM_000398.7(CYB5R3):c.153+233C>G	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340198	NM_000398.7(CYB5R3):c.136C>T (p.Arg46Trp)	CYB5R3 (R23W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256011	NM_000398.7(CYB5R3):c.132G>A (p.Pro44=)	CYB5R3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1303578	NM_000398.7(CYB5R3):c.89C>T (p.Ser30Phe)	CYB5R3 (S30F +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase +1 more	GUncertain significance
Select item 256012	NM_000398.7(CYB5R3):c.22-18C>A	CYB5R3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1241195	NM_000398.7(CYB5R3):c.21+5219T>C	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290594	NM_000398.7(CYB5R3):c.21+4998G>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 995704	NM_000398.7(CYB5R3):c.21+4867C>G	CYB5R3 (Q28E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1265275	NM_000398.7(CYB5R3):c.21+4661G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242842	NM_000398.7(CYB5R3):c.21+4508C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274008	NM_000398.7(CYB5R3):c.21+4494G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281342	NM_000398.7(CYB5R3):c.21+4462G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274928	NM_000398.7(CYB5R3):c.21+4428C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288900	NM_000398.7(CYB5R3):c.21+4380G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231332	NC_000022.11:g.42649452G>T	CYB5R3, LOC130067609	Single nucleotide variant	not provided	GBenign
Select item 1251861	NC_000022.11:g.42649507dup	CYB5R3	Duplication	not provided	GBenign
Select item 1289106	NC_000022.11:g.42649531T>C	CYB5R3	Single nucleotide variant	not provided	GBenign
Select item 1238610	NC_000022.11:g.42649566C>A	CYB5R3	Single nucleotide variant	not provided	GBenign
Select item 1291543	NC_000022.11:g.42649616del	CYB5R3	Deletion	not provided	GBenign
Select item 1287070	NC_000022.11:g.42649637C>G	CYB5R3	Single nucleotide variant	not provided	GBenign
Select item 1226806	NC_000022.11:g.42649689G>A	CYB5R3	Single nucleotide variant	not provided	GBenign
Select item 1233335	NC_000022.11:g.42649701G>T	CYB5R3	Single nucleotide variant	not provided	GBenign
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 51