ClinVar for Gene (Select 55008) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3105474	NM_017912.4(HERC6):c.790C>T (p.Arg264Cys)	HERC6 (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105473	NM_017912.4(HERC6):c.686C>T (p.Ser229Leu)	HERC6 (S229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105472	NM_017912.4(HERC6):c.640G>A (p.Ala214Thr)	HERC6 (A214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105471	NM_017912.4(HERC6):c.572C>T (p.Ala191Val)	HERC6 (A191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105470	NM_017912.4(HERC6):c.557T>C (p.Val186Ala)	HERC6 (V186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105469	NM_017912.4(HERC6):c.467G>A (p.Ser156Asn)	HERC6 (S156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105468	NM_017912.4(HERC6):c.445G>A (p.Val149Met)	HERC6 (V149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105467	NM_017912.4(HERC6):c.43C>G (p.Arg15Gly)	HERC6 (R15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105465	NM_017912.4(HERC6):c.3016G>C (p.Val1006Leu)	HERC6 (V1006L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105464	NM_017912.4(HERC6):c.2491T>C (p.Trp831Arg)	HERC6 (W831R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105463	NM_017912.4(HERC6):c.247G>A (p.Gly83Arg)	HERC6 (G83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105461	NM_017912.4(HERC6):c.2095A>G (p.Lys699Glu)	HERC6 (K663E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105460	NM_017912.4(HERC6):c.202C>A (p.Pro68Thr)	HERC6 (P68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105459	NM_017912.4(HERC6):c.1952C>A (p.Ala651Glu)	HERC6 (A615E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105457	NM_017912.4(HERC6):c.1489T>C (p.Trp497Arg)	HERC6 (W497R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105456	NM_017912.4(HERC6):c.1420C>G (p.Pro474Ala)	HERC6 (P474A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105455	NM_017912.4(HERC6):c.1302T>A (p.Asp434Glu)	HERC6 (D434E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105453	NM_017912.4(HERC6):c.1156A>G (p.Met386Val)	HERC6 (M386V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105452	NM_017912.4(HERC6):c.1102T>C (p.Ser368Pro)	HERC6 (S368P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105451	NM_017912.4(HERC6):c.1026C>A (p.Asp342Glu)	HERC6 (D342E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2654939	NM_017912.4(HERC6):c.2233A>C (p.Met745Leu)	HERC6 (M709L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2612802	NM_017912.4(HERC6):c.2878G>A (p.Gly960Ser)	HERC6 (G960S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600420	NM_017912.4(HERC6):c.1115C>T (p.Pro372Leu)	HERC6 (P372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590588	NM_017912.4(HERC6):c.150C>G (p.Asn50Lys)	HERC6 (N50K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2557431	NM_017912.4(HERC6):c.2776C>A (p.Pro926Thr)	HERC6 (P890T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555958	NM_017912.4(HERC6):c.39G>T (p.Gln13His)	HERC6 (Q13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546959	NM_017912.4(HERC6):c.449T>C (p.Phe150Ser)	HERC6 (F150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517025	NM_017912.4(HERC6):c.946C>T (p.Pro316Ser)	HERC6 (P316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510465	NM_017912.4(HERC6):c.298G>C (p.Gly100Arg)	HERC6 (G100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484753	NM_017912.4(HERC6):c.1172T>G (p.Ile391Arg)	HERC6 (I391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482336	NM_017912.4(HERC6):c.1354T>C (p.Trp452Arg)	HERC6 (W452R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476705	NM_017912.4(HERC6):c.992A>T (p.Asn331Ile)	HERC6 (N331I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475311	NM_017912.4(HERC6):c.2510A>C (p.Asp837Ala)	HERC6 (D801A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465023	NM_017912.4(HERC6):c.32A>G (p.Glu11Gly)	HERC6 (E11G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400832	NM_017912.4(HERC6):c.2060G>A (p.Arg687His)	HERC6 (R687H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399291	NM_017912.4(HERC6):c.2585A>G (p.Tyr862Cys)	HERC6 (Y862C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394749	NM_017912.4(HERC6):c.859G>A (p.Gly287Ser)	HERC6 (G287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393164	NM_017912.4(HERC6):c.503C>T (p.Ser168Phe)	HERC6 (S168F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388026	NM_017912.4(HERC6):c.2365G>A (p.Asp789Asn)	HERC6 (D753N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376349	NM_017912.4(HERC6):c.974C>T (p.Pro325Leu)	HERC6 (P325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374882	NM_017912.4(HERC6):c.1421C>T (p.Pro474Leu)	HERC6 (P474L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372261	NM_017912.4(HERC6):c.2456T>C (p.Ile819Thr)	HERC6 (I783T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364213	NM_017912.4(HERC6):c.3054G>A (p.Met1018Ile)	HERC6 (M982I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363807	NM_017912.4(HERC6):c.1108C>T (p.Arg370Cys)	HERC6 (R370C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348865	NM_017912.4(HERC6):c.1307A>G (p.Asp436Gly)	HERC6 (D436G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344455	NM_017912.4(HERC6):c.393A>G (p.Ile131Met)	HERC6 (I131M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342904	NM_017912.4(HERC6):c.2561A>G (p.Asp854Gly)	HERC6 (D818G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333689	NM_017912.4(HERC6):c.1180A>G (p.Lys394Glu)	HERC6 (K394E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316351	NM_017912.4(HERC6):c.2488C>T (p.His830Tyr)	HERC6 (H794Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303769	NM_017912.4(HERC6):c.1989G>T (p.Lys663Asn)	HERC6 (K627N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297178	NM_017912.4(HERC6):c.2191C>A (p.Pro731Thr)	HERC6 (P731T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294622	NM_017912.4(HERC6):c.269T>C (p.Val90Ala)	HERC6 (V90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281513	NM_017912.4(HERC6):c.1684C>G (p.Leu562Val)	HERC6 (L562V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276362	NM_017912.4(HERC6):c.2975C>T (p.Pro992Leu)	HERC6 (P992L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266280	NM_017912.4(HERC6):c.1277G>A (p.Gly426Glu)	HERC6 (G426E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264309	NM_017912.4(HERC6):c.2764C>A (p.Gln922Lys)	HERC6 (Q886K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263378	NM_017912.4(HERC6):c.515C>T (p.Pro172Leu)	HERC6 (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261909	NM_017912.4(HERC6):c.2039G>A (p.Arg680His)	HERC6 (R644H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261624	NM_017912.4(HERC6):c.2195A>T (p.Glu732Val)	HERC6 (E696V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256983	NM_017912.4(HERC6):c.1230A>G (p.Ile410Met)	HERC6 (I410M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242342	NM_017912.4(HERC6):c.2858G>A (p.Arg953His)	HERC6 (R917H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235538	NM_017912.4(HERC6):c.1787A>G (p.Tyr596Cys)	HERC6 (Y596C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527108	GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)	ABCG2, AFF1 +31 more	Copy number loss	not specified	GPathogenic
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 976807	Single allele	DMP1, ABCG2 +22 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 787809	NM_017912.4(HERC6):c.516G>A (p.Pro172=)	HERC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785102	NM_017912.4(HERC6):c.3061C>T (p.Gln1021Ter)	HERC6 (Q1021* +1 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 785101	NM_017912.4(HERC6):c.2969C>A (p.Ser990Tyr)	HERC6 (S954Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785100	NM_017912.4(HERC6):c.2871T>C (p.His957=)	HERC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785099	NM_017912.4(HERC6):c.2444C>A (p.Ala815Asp)	HERC6 (A779D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782443	NM_017912.4(HERC6):c.1841C>T (p.Thr614Ile)	HERC6 (T614I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 709772	NM_017912.4(HERC6):c.1733G>A (p.Arg578Gln)	HERC6 (R578Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 more	Copy number loss	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +533 more	Copy number gain	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 14009	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3	CCSER1, FAM13A +43 more	Copy number gain	Autosomal dominant Parkinson disease 4	GPathogenic

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Links from Gene

Items: 93