ClinVar for Gene (Select 51706) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270456	NM_016243.3(CYB5R1):c.440G>A (p.Arg147Gln)	CYB5R1 (R147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270455	NM_016243.3(CYB5R1):c.64G>A (p.Gly22Ser)	CYB5R1 (G22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270454	NM_016243.3(CYB5R1):c.186G>C (p.Lys62Asn)	CYB5R1 (K62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3079272	NM_016243.3(CYB5R1):c.847A>G (p.Met283Val)	CYB5R1 (M283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079271	NM_016243.3(CYB5R1):c.794A>G (p.His265Arg)	CYB5R1 (H265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079270	NM_016243.3(CYB5R1):c.694C>T (p.Arg232Cys)	CYB5R1 (R232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2545440	NM_016243.3(CYB5R1):c.778G>A (p.Asp260Asn)	CYB5R1 (D260N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534945	NM_016243.3(CYB5R1):c.622T>C (p.Cys208Arg)	CYB5R1 (C208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482163	NM_016243.3(CYB5R1):c.179A>C (p.Asn60Thr)	CYB5R1 (N60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477045	NM_016243.3(CYB5R1):c.347T>C (p.Val116Ala)	CYB5R1 (V116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2390421	NM_016243.3(CYB5R1):c.49C>G (p.Leu17Val)	CYB5R1 (L17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368776	NM_016243.3(CYB5R1):c.248T>C (p.Ile83Thr)	CYB5R1 (I83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313273	NM_016243.3(CYB5R1):c.884T>G (p.Leu295Arg)	CYB5R1 (L295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279597	NM_016243.3(CYB5R1):c.695G>A (p.Arg232His)	CYB5R1 (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266370	NM_016243.3(CYB5R1):c.650A>G (p.Glu217Gly)	CYB5R1 (E217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245475	NM_016243.3(CYB5R1):c.19C>T (p.Pro7Ser)	CYB5R1 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243384	NM_016243.3(CYB5R1):c.565A>G (p.Thr189Ala)	CYB5R1 (T189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233523	NM_016243.3(CYB5R1):c.667C>T (p.Arg223Trp)	CYB5R1 (R223W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565213	GRCh37/hg19 1q32.1(chr1:202789375-203058390)x3	RABIF, MYOG +5 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35