CYB561[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 2458909	NM_001915.4(CYB561):c.728C>T (p.Thr243Met)	CYB561 (T250M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079247	NM_001915.4(CYB561):c.701C>G (p.Ala234Gly)	CYB561 (A234G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079246	NM_001915.4(CYB561):c.676C>T (p.Arg226Trp)	CYB561 (R233W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079245	NM_001915.4(CYB561):c.650A>G (p.Tyr217Cys)	CYB561 (Y217C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295543	NM_001915.4(CYB561):c.640G>A (p.Ala214Thr)	CYB561 (A214T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051792	NM_001915.4(CYB561):c.606C>T (p.Asn202=)	CYB561	Single nucleotide variant (synonymous variant)	CYB561-related condition	GLikely benign
Select item 3046415	NM_001915.4(CYB561):c.561C>T (p.Leu187=)	CYB561	Single nucleotide variant (synonymous variant)	CYB561-related condition	GLikely benign
Select item 2594119	NM_001915.4(CYB561):c.514G>A (p.Val172Met)	CYB561 (V179M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369741	NM_001915.4(CYB561):c.464G>A (p.Arg155His)	CYB561 (R155H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466946	NM_001915.4(CYB561):c.463C>T (p.Arg155Cys)	CYB561 (R155C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377628	NM_001915.4(CYB561):c.457C>T (p.Arg153Trp)	CYB561 (R160W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228278	NM_001915.4(CYB561):c.439G>C (p.Gly147Arg)	CYB561 (G147R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588933	NM_001915.4(CYB561):c.424T>C (p.Phe142Leu)	CYB561 (F142L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588932	NM_001915.4(CYB561):c.418T>C (p.Phe140Leu)	CYB561 (F147L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256060	NM_001915.4(CYB561):c.343G>A (p.Ala115Thr)	CYB561 (A122T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360709	NM_001915.4(CYB561):c.337G>A (p.Gly113Ser)	CYB561 (G120S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410531	NM_001915.4(CYB561):c.319G>A (p.Asp107Asn)	CYB561 (D107N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040835	NM_001915.4(CYB561):c.318C>T (p.Phe106=)	CYB561	Single nucleotide variant (synonymous variant)	CYB561-related condition	GLikely benign
Select item 2330780	NM_001915.4(CYB561):c.278T>C (p.Phe93Ser)	CYB561 (F93S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 590763	NM_001915.4(CYB561):c.262G>A (p.Gly88Arg)	CYB561 (G88R +1 more)	Single nucleotide variant (missense variant)	Orthostatic hypotension 2	GPathogenic
Select item 3034465	NM_001915.4(CYB561):c.207G>A (p.Leu69=)	CYB561	Single nucleotide variant (synonymous variant)	CYB561-related condition	GBenign
Select item 590764	NM_001915.4(CYB561):c.131G>A (p.Trp44Ter)	CYB561, LOC112533658 (W44* +1 more)	Single nucleotide variant (nonsense)	Orthostatic hypotension 2	GPathogenic
Select item 3079244	NM_001915.4(CYB561):c.44A>T (p.Tyr15Phe)	CYB561 (Y15F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060907	NM_001915.4(CYB561):c.24C>T (p.Ala8=)	CYB561	Single nucleotide variant (synonymous variant)	CYB561-related condition	GLikely benign
Select item 3056754	NM_001915.4(CYB561):c.-13-2648G>A	CYB561	Single nucleotide variant (5 prime UTR variant +1 more)	CYB561-related condition	GBenign
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 688982	GRCh37/hg19 17q23.3(chr17:61347958-61537402)x3	CYB561, TANC2	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36