CYB561D2[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 1289666	NC_000003.12:g.50350952C>A	CYB561D2, LOC127898564 +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1231684	NC_000003.12:g.50351176C>A	CYB561D2, LOC127898564 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3079254	NM_001291284.2(CYB561D2):c.236G>A (p.Arg79Gln)	CYB561D2, LOC127898564 (R79Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079255	NM_001291284.2(CYB561D2):c.250C>T (p.Arg84Cys)	CYB561D2, LOC127898564 (R25C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270440	NM_001291284.2(CYB561D2):c.254G>A (p.Cys85Tyr)	CYB561D2, LOC127898564 (C26Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593444	NM_001291284.2(CYB561D2):c.355C>T (p.Arg119Trp)	CYB561D2, LOC127898564 (R60W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079256	NM_001291284.2(CYB561D2):c.356G>T (p.Arg119Leu)	CYB561D2, LOC127898564 (R119L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520020	NM_001291284.2(CYB561D2):c.391G>A (p.Ala131Thr)	CYB561D2, LOC127898564 (A72T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270441	NM_001291284.2(CYB561D2):c.446G>A (p.Arg149Gln)	CYB561D2, LOC127898564 (R90Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079257	NM_001291284.2(CYB561D2):c.458C>T (p.Ala153Val)	CYB561D2, LOC127898564 (A94V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286742	NM_001291284.2(CYB561D2):c.583G>C (p.Ala195Pro)	CYB561D2, LOC127898564 (A195P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079258	NM_001291284.2(CYB561D2):c.647A>T (p.Tyr216Phe)	CYB561D2, LOC127898564 (Y157F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178444	NM_007024.5(TMEM115):c.1046C>T (p.Pro349Leu)	CYB561D2, LOC127898564 +1 more (P349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326654	NM_007024.5(TMEM115):c.841G>A (p.Glu281Lys)	CYB561D2, LOC127898564 +1 more (E281K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178447	NM_007024.5(TMEM115):c.735C>G (p.Ser245Arg)	CYB561D2, LOC127898564 +1 more (S245R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178446	NM_007024.5(TMEM115):c.668C>G (p.Ala223Gly)	CYB561D2, LOC127898564 +1 more (A223G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235759	NM_006030.4(CACNA2D2):c.3364C>G (p.Leu1122Val)	CACNA2D2, CYB561D2 +1 more (L1123V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1706533	NM_006030.4(CACNA2D2):c.3362T>G (p.Leu1121Arg)	CACNA2D2, CYB561D2 +1 more (L1054R +4 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GLikely pathogenic
Select item 2664675	NM_006030.4(CACNA2D2):c.3344del (p.Val1115fs)	CACNA2D2, CYB561D2 +1 more (V1048fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 804487	NM_006030.4(CACNA2D2):c.3307T>A (p.Cys1103Ser)	CACNA2D2, CYB561D2 +1 more (C1103S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304687	NM_006030.4(CACNA2D2):c.3263C>T (p.Pro1088Leu)	CACNA2D2, CYB561D2 +1 more (P1021L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 637020	NM_006030.4(CACNA2D2):c.3137T>C (p.Leu1046Pro)	CACNA2D2, CYB561D2 +1 more (L1046P +2 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GPathogenic
Select item 2264410	NM_006030.4(CACNA2D2):c.3113A>G (p.Gln1038Arg)	CACNA2D2, CYB561D2 +1 more (Q1039R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136458	NM_006030.4(CACNA2D2):c.3030G>C (p.Gln1010His)	CACNA2D2, CYB561D2 +2 more (Q1011H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600120	NM_006030.4(CACNA2D2):c.3014G>A (p.Ser1005Asn)	CACNA2D2, CYB561D2 +2 more (S1012N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1703129	NM_006030.4(CACNA2D2):c.2972-12G>A	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 637021	NM_006030.4(CACNA2D2):c.2971G>A (p.Asp991Asn)	CACNA2D2, CYB561D2 +2 more (D998N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay	GPathogenic
Select item 2340066	NM_006030.4(CACNA2D2):c.2941G>A (p.Gly981Ser)	CACNA2D2, CYB561D2 +2 more (G981S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065829	NM_006030.4(CACNA2D2):c.2626G>T (p.Val876Phe)	CACNA2D2, CYB561D2 +2 more (V807F +3 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 3136457	NM_006030.4(CACNA2D2):c.2590T>C (p.Cys864Arg)	CACNA2D2, CYB561D2 +2 more (C795R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559984	NM_006030.4(CACNA2D2):c.2476G>T (p.Gly826Cys)	CACNA2D2, CYB561D2 +2 more (G757C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136456	NM_006030.4(CACNA2D2):c.2466G>C (p.Glu822Asp)	LOC127898564, CACNA2D2 +2 more (E753D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068035	NM_006030.4(CACNA2D2):c.2336A>C (p.Asn779Thr)	CACNA2D2, CYB561D2 +2 more (N710T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 2682833	NM_006030.4(CACNA2D2):c.2268C>A (p.Asp756Glu)	CYB561D2, CACNA2D2 +2 more (D687E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2235757	NM_006030.4(CACNA2D2):c.2210T>C (p.Val737Ala)	CACNA2D2, CYB561D2 +2 more (V737A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2921168	NM_006030.4(CACNA2D2):c.2143+16G>T	CYB561D2, LOC101928965 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay	GLikely benign
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 2425465	NC_000003.11:g.(?_50378802)_(50471880_?)del	CACNA2D2, CYB561D2 +3 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1808347	GRCh37/hg19 3p21.31(chr3:50364292-50492932)x1	CACNA2D2, CYB561D2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 221434	GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3	CACNA2D2, CYB561D2 +13 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 47