1534[geneid] - ClinVar

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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	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +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 disorder	GLikely benign
Select item 3046415	NM_001915.4(CYB561):c.561C>T (p.Leu187=)	CYB561	Single nucleotide variant (synonymous variant)	CYB561-related disorder	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 disorder	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 disorder	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 disorder	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 disorder	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	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 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

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Items: 36