ClinVar for Gene (Select 26091) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
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 2640522	NM_015601.4(HERC4):c.1185G>A (p.Pro395=)	HERC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 781200	NM_015601.4(HERC4):c.2655-9del	HERC4	Deletion (intron variant)	not provided	GBenign
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
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 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 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 66