HERC4[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 3105433	NM_015601.4(HERC4):c.3128A>G (p.Asn1043Ser)	HERC4 (N1043S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360069	NM_015601.4(HERC4):c.3116C>T (p.Ala1039Val)	HERC4 (A1047V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385987	NM_015601.4(HERC4):c.3110T>A (p.Ile1037Asn)	HERC4 (I1045N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510027	NM_015601.4(HERC4):c.3013G>A (p.Gly1005Arg)	HERC4 (G750R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620927	NM_015601.4(HERC4):c.3005A>G (p.Gln1002Arg)	HERC4 (Q1002R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105432	NM_015601.4(HERC4):c.2908G>A (p.Glu970Lys)	HERC4 (E900K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546582	NM_015601.4(HERC4):c.2902T>G (p.Phe968Val)	HERC4 (F968V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284109	NM_015601.4(HERC4):c.2896G>A (p.Glu966Lys)	HERC4 (E896K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552808	NM_015601.4(HERC4):c.2801T>C (p.Ile934Thr)	HERC4 (I942T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640521	NM_015601.4(HERC4):c.2716G>A (p.Asp906Asn)	HERC4 (D651N +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2284185	NM_015601.4(HERC4):c.2704G>A (p.Ala902Thr)	HERC4 (A902T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781200	NM_015601.4(HERC4):c.2655-9del	HERC4	Deletion (intron variant)	not provided	GBenign
Select item 2298831	NM_015601.4(HERC4):c.2368A>G (p.Ile790Val)	HERC4 (I790V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240581	NM_015601.4(HERC4):c.2308G>A (p.Asp770Asn)	HERC4 (D515N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335526	NM_015601.4(HERC4):c.2303A>G (p.Tyr768Cys)	HERC4 (Y776C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304332	NM_015601.4(HERC4):c.2117G>A (p.Arg706His)	HERC4 (R706H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240817	NM_015601.4(HERC4):c.2081T>C (p.Ile694Thr)	HERC4 (I702T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252746	NM_015601.4(HERC4):c.1955C>A (p.Thr652Lys)	HERC4 (T397K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284110	NM_015601.4(HERC4):c.1927-2152C>G	HERC4 (N645K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105430	NM_015601.4(HERC4):c.1823G>A (p.Gly608Glu)	HERC4 (G608E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335591	NM_015601.4(HERC4):c.1762A>T (p.Ser588Cys)	HERC4 (S588C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310643	NM_015601.4(HERC4):c.1757T>A (p.Phe586Tyr)	HERC4 (F331Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530958	NM_015601.4(HERC4):c.1728C>G (p.Ile576Met)	HERC4 (I321M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105429	NM_015601.4(HERC4):c.1605C>G (p.Asn535Lys)	HERC4 (N280K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348873	NM_015601.4(HERC4):c.1417C>T (p.Pro473Ser)	HERC4 (P473S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596937	NM_015601.4(HERC4):c.1403A>G (p.His468Arg)	HERC4 (H213R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105427	NM_015601.4(HERC4):c.1281T>G (p.Asp427Glu)	HERC4 (D172E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486606	NM_015601.4(HERC4):c.1247G>A (p.Gly416Glu)	HERC4 (G161E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105426	NM_015601.4(HERC4):c.1230G>T (p.Trp410Cys)	HERC4 (W155C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640522	NM_015601.4(HERC4):c.1185G>A (p.Pro395=)	HERC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301613	NM_015601.4(HERC4):c.1177C>T (p.Pro393Ser)	HERC4 (P138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540129	NM_015601.4(HERC4):c.1119A>C (p.Gln373His)	HERC4 (Q118H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537447	NM_015601.4(HERC4):c.1025A>G (p.Lys342Arg)	HERC4 (K87R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791491	NM_015601.4(HERC4):c.699T>A (p.Pro233=)	HERC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2287924	NM_015601.4(HERC4):c.692A>G (p.Tyr231Cys)	HERC4 (Y231C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311401	NM_015601.4(HERC4):c.469G>A (p.Glu157Lys)	HERC4 (E157K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466136	NM_015601.4(HERC4):c.440A>G (p.Tyr147Cys)	HERC4 (Y147C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353496	NM_015601.4(HERC4):c.331G>A (p.Asp111Asn)	HERC4 (D111N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303072	NM_015601.4(HERC4):c.317A>G (p.Tyr106Cys)	HERC4 (Y106C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537884	NM_015601.4(HERC4):c.104G>A (p.Arg35Lys)	HERC4 (R35K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2307811	NM_015601.4(HERC4):c.68T>A (p.Leu23Gln)	HERC4 (L23Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105428	NM_015601.4(HERC4):c.13G>A (p.Gly5Arg)	HERC4 (G5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684605	GRCh37/hg19 10q21.3(chr10:69692630-69937468)x3	HERC4, MYPN	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1809501	GRCh37/hg19 10q21.3(chr10:69824933-70064085)x1	ATOH7, HERC4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1809343	GRCh37/hg19 10q21.3(chr10:69575390-69911592)x3	DNAJC12, HERC4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808172	GRCh37/hg19 10q21.3(chr10:69824933-70070858)x1	ATOH7, HERC4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GPathogenic
Select item 815358	GRCh37/hg19 10q21.3(chr10:69545126-69883765)x3	DNAJC12, MYPN +2 more	Copy number gain	not provided	GUncertain significance
Select item 815357	GRCh37/hg19 10q21.3(chr10:69066516-70079295)x3	MYPN, HERC4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 444846	GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1	HERC4, HNRNPH3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 66