20147[HGNC] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 155103	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x4	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 151973	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 59504	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84305263)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 153810	GRCh38/hg38 6q14.2-14.3(chr6:83664023-84334552)x3	CEP162, CYB5R4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 59522	GRCh38/hg38 6q14.2-14.3(chr6:83680568-84270992)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 144628	GRCh38/hg38 6q14.2-14.3(chr6:83713534-84298234)x3	CEP162, CYB5R4 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 157021	NC_000006.12:g.83843759_83988634dup	RIPPLY2-CYB5R4, CYB5R4 +6 more	Duplication	Large for gestational age +1 more	Gnot provided
Select item 2286333	NM_016230.4(CYB5R4):c.37A>G (p.Arg13Gly)	CYB5R4, RIPPLY2-CYB5R4 (R13G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249930	NM_016230.4(CYB5R4):c.62G>C (p.Gly21Ala)	CYB5R4, RIPPLY2-CYB5R4 (G21A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525711	NM_016230.4(CYB5R4):c.146G>A (p.Gly49Glu)	CYB5R4, RIPPLY2-CYB5R4 (G15E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567464	NM_016230.4(CYB5R4):c.281A>G (p.Asp94Gly)	CYB5R4, RIPPLY2-CYB5R4 (D60G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270612	NM_016230.4(CYB5R4):c.331G>T (p.Val111Phe)	CYB5R4, RIPPLY2-CYB5R4 (V77F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079284	NM_016230.4(CYB5R4):c.337C>T (p.Arg113Cys)	CYB5R4, RIPPLY2-CYB5R4 (R113C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079285	NM_016230.4(CYB5R4):c.358A>G (p.Met120Val)	CYB5R4, RIPPLY2-CYB5R4 (M120V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079286	NM_016230.4(CYB5R4):c.374T>A (p.Leu125Gln)	CYB5R4, RIPPLY2-CYB5R4 (L125Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284258	NM_016230.4(CYB5R4):c.566A>G (p.Asp189Gly)	CYB5R4, RIPPLY2-CYB5R4 (D155G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079288	NM_016230.4(CYB5R4):c.572A>G (p.Asn191Ser)	CYB5R4, RIPPLY2-CYB5R4 (N191S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079289	NM_016230.4(CYB5R4):c.575T>C (p.Leu192Ser)	CYB5R4, RIPPLY2-CYB5R4 (L158S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551645	NM_016230.4(CYB5R4):c.583A>G (p.Ile195Val)	CYB5R4, RIPPLY2-CYB5R4 (I195V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2563696	NM_016230.4(CYB5R4):c.589G>A (p.Val197Ile)	CYB5R4, RIPPLY2-CYB5R4 (V197I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291465	NM_016230.4(CYB5R4):c.634G>A (p.Asp212Asn)	CYB5R4, RIPPLY2-CYB5R4 (D178N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304433	NM_016230.4(CYB5R4):c.697G>T (p.Val233Phe)	CYB5R4, RIPPLY2-CYB5R4 (V199F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536004	NM_016230.4(CYB5R4):c.710T>C (p.Val237Ala)	CYB5R4, RIPPLY2-CYB5R4 (V203A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276347	NM_016230.4(CYB5R4):c.740A>C (p.Lys247Thr)	CYB5R4, RIPPLY2-CYB5R4 (K247T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079290	NM_016230.4(CYB5R4):c.794T>C (p.Leu265Pro)	CYB5R4, RIPPLY2-CYB5R4 (L231P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788411	NM_016230.4(CYB5R4):c.799C>G (p.Pro267Ala)	CYB5R4, RIPPLY2-CYB5R4 (P267A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2370997	NM_016230.4(CYB5R4):c.869C>T (p.Thr290Met)	CYB5R4, RIPPLY2-CYB5R4 (T256M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513607	NM_016230.4(CYB5R4):c.931G>A (p.Val311Ile)	CYB5R4, RIPPLY2-CYB5R4 (V311I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079291	NM_016230.4(CYB5R4):c.992G>A (p.Gly331Asp)	CYB5R4, RIPPLY2-CYB5R4 (G331D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2488347	NM_016230.4(CYB5R4):c.1163A>G (p.Gln388Arg)	CYB5R4, RIPPLY2-CYB5R4 (Q388R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1677835	NM_016230.4(CYB5R4):c.1258_1259del (p.Arg420fs)	CYB5R4, RIPPLY2-CYB5R4 (R420fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2604060	NM_016230.4(CYB5R4):c.1283A>G (p.Asn428Ser)	CYB5R4, RIPPLY2-CYB5R4 (N394S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079283	NM_016230.4(CYB5R4):c.1317A>C (p.Gln439His)	CYB5R4, RIPPLY2-CYB5R4 (Q405H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331144	NM_016230.4(CYB5R4):c.1412C>T (p.Ser471Leu)	CYB5R4, RIPPLY2-CYB5R4 (S437L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 1808383	GRCh37/hg19 6q14.2-14.3(chr6:84373743-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527262	GRCh37/hg19 6q14.2-14.3(chr6:84632996-85244556)	CEP162, CYB5R4 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527261	GRCh37/hg19 6q14.2(chr6:84452336-84742729)	CYB5R4, RIPPLY2	Copy number loss	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 814841	GRCh37/hg19 6q14.2(chr6:84559903-84819164)x1	CYB5R4, MRAP2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 689041	GRCh37/hg19 6q14.2-14.3(chr6:84369643-85044077)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 684916	GRCh37/hg19 6q14.2-14.3(chr6:84354003-85052572)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563201	GRCh37/hg19 6q14.2(chr6:84480837-84803980)x1	RIPPLY2, MRAP2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563200	GRCh37/hg19 6q14.2-14.3(chr6:84373742-85044270)x3	CYB5R4, CEP162 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443811	GRCh37/hg19 6q14.2-14.3(chr6:84374492-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442516	GRCh37/hg19 6q14.2-14.3(chr6:84364140-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 393723	GRCh37/hg19 6q14.2-14.3(chr6:84366014-84922654)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 58