THAP9[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
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 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 146518	GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1	ANTXR2, BMP3 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 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 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 59456	GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1	COPS4, COQ2 +68 more	Copy number loss	See cases	GPathogenic
Select item 155254	GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1	ABRAXAS1, COPS4 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 59457	GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 59458	GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 2223051	NM_024672.6(THAP9):c.109A>G (p.Lys37Glu)	THAP9 (K37E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2216624	NM_024672.6(THAP9):c.385A>G (p.Lys129Glu)	THAP9 (K129E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3176937	NM_024672.6(THAP9):c.416T>C (p.Leu139Pro)	THAP9 (L139P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3176938	NM_024672.6(THAP9):c.461T>C (p.Ile154Thr)	THAP9 (I10T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608710	NM_024672.6(THAP9):c.464C>A (p.Ser155Tyr)	THAP9 (S11Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654855	NM_024672.6(THAP9):c.465C>G (p.Ser155=)	THAP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2590952	NM_024672.6(THAP9):c.466G>C (p.Val156Leu)	THAP9 (V12L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325841	NM_024672.6(THAP9):c.472A>G (p.Asn158Asp)	THAP9 (N14D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325849	NM_024672.6(THAP9):c.514G>A (p.Asp172Asn)	THAP9 (D172N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397922	NM_024672.6(THAP9):c.518C>T (p.Ala173Val)	THAP9 (A29V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307537	NM_024672.6(THAP9):c.596T>C (p.Leu199Ser)	THAP9 (L199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460577	NM_024672.6(THAP9):c.598T>C (p.Tyr200His)	THAP9 (Y200H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517696	NM_024672.6(THAP9):c.628G>A (p.Ala210Thr)	THAP9 (A66T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176939	NM_024672.6(THAP9):c.664T>C (p.Cys222Arg)	THAP9 (C78R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540035	NM_024672.6(THAP9):c.694A>C (p.Lys232Gln)	THAP9 (K88Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325851	NM_024672.6(THAP9):c.763T>C (p.Phe255Leu)	THAP9 (F111L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299707	NM_024672.6(THAP9):c.770G>A (p.Ser257Asn)	THAP9 (S257N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241948	NM_024672.6(THAP9):c.802G>C (p.Glu268Gln)	THAP9 (E268Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620988	NM_024672.6(THAP9):c.806A>G (p.Asn269Ser)	THAP9 (N125S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390363	NM_024672.6(THAP9):c.815A>G (p.Gln272Arg)	THAP9 (Q272R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232967	NM_024672.6(THAP9):c.818T>G (p.Leu273Arg)	THAP9 (L273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176940	NM_024672.6(THAP9):c.823C>G (p.Gln275Glu)	THAP9 (Q275E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325844	NM_024672.6(THAP9):c.968T>C (p.Leu323Ser)	THAP9 (L323S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209234	NM_024672.6(THAP9):c.974T>C (p.Met325Thr)	THAP9 (M181T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176941	NM_024672.6(THAP9):c.989T>G (p.Phe330Cys)	THAP9 (F186C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325845	NM_024672.6(THAP9):c.1021T>C (p.Phe341Leu)	THAP9 (F197L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313855	NM_024672.6(THAP9):c.1072A>G (p.Ile358Val)	THAP9 (I214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325843	NM_024672.6(THAP9):c.1108G>T (p.Ala370Ser)	THAP9 (A226S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176933	NM_024672.6(THAP9):c.1115C>T (p.Thr372Ile)	THAP9 (T372I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325850	NM_024672.6(THAP9):c.1137T>A (p.Ser379Arg)	THAP9 (S379R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325840	NM_024672.6(THAP9):c.1153G>A (p.Ala385Thr)	THAP9 (A241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486815	NM_024672.6(THAP9):c.1163T>C (p.Ile388Thr)	THAP9 (I244T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463289	NM_024672.6(THAP9):c.1169T>C (p.Ile390Thr)	THAP9 (I246T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176934	NM_024672.6(THAP9):c.1182C>A (p.Asp394Glu)	THAP9 (D394E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176935	NM_024672.6(THAP9):c.1198C>G (p.Gln400Glu)	THAP9 (Q400E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266845	NM_024672.6(THAP9):c.1243T>C (p.Ser415Pro)	THAP9 (S271P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229056	NM_024672.6(THAP9):c.1456G>A (p.Val486Ile)	THAP9 (V342I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523124	NM_024672.6(THAP9):c.1498C>T (p.Pro500Ser)	THAP9 (P356S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327320	NM_024672.6(THAP9):c.1522A>G (p.Ile508Val)	THAP9 (I364V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394961	NM_024672.6(THAP9):c.1535G>A (p.Arg512His)	THAP9 (R512H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260571	NM_024672.6(THAP9):c.1946A>G (p.Asp649Gly)	THAP9 (D505G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455098	NM_024672.6(THAP9):c.1994G>A (p.Arg665Gln)	THAP9 (R521Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595268	NM_024672.6(THAP9):c.2009C>A (p.Ala670Glu)	THAP9 (A670E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560864	NM_024672.6(THAP9):c.2009C>T (p.Ala670Val)	THAP9 (A670V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405394	NM_024672.6(THAP9):c.2031G>C (p.Gln677His)	THAP9 (Q533H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403468	NM_024672.6(THAP9):c.2044G>A (p.Val682Ile)	THAP9 (V538I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533503	NM_024672.6(THAP9):c.2069A>T (p.Glu690Val)	THAP9 (E546V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325848	NM_024672.6(THAP9):c.2138G>A (p.Arg713Gln)	THAP9 (R713Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550309	NM_024672.6(THAP9):c.2200G>A (p.Asp734Asn)	THAP9 (D590N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325847	NM_024672.6(THAP9):c.2206A>C (p.Ile736Leu)	THAP9 (I736L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325846	NM_024672.6(THAP9):c.2262T>G (p.Phe754Leu)	THAP9 (F754L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325842	NM_024672.6(THAP9):c.2497G>T (p.Val833Phe)	THAP9 (V833F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480789	NM_024672.6(THAP9):c.2575C>A (p.His859Asn)	THAP9 (H715N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389419	NM_024672.6(THAP9):c.2692G>A (p.Asp898Asn)	THAP9 (D754N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176936	NM_024672.6(THAP9):c.2702C>T (p.Pro901Leu)	THAP9 (P901L +1 more)	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 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	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 1340143	GRCh37/hg19 4q21.22(chr4:83402855-83847970)x3	LIN54, SCD5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 830313	Single allele	CDS1, COPS4 +16 more	Deletion	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 814576	GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1	ENOPH1, MRPS18C +17 more	Copy number loss	not provided	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 687488	GRCh37/hg19 4q21.21-21.22(chr4:80199183-84074906)x1	ANTXR2, BMP3 +18 more	Copy number loss	not provided	GPathogenic
Select item 686225	GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	ABRAXAS1, ANTXR2 +29 more	Copy number loss	not provided	GPathogenic
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 625784	GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	ABRAXAS1, AFF1 +28 more	Copy number loss	not provided	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 442797	GRCh37/hg19 4q21.21-21.23(chr4:82359656-84155605)x1	COPS4, ENOPH1 +9 more	Copy number loss	See cases	GLikely pathogenic
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	MRPL1, MSANTD1 +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	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 93