THAP6[gene] - ClinVar

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Items: 45

	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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	CDKL2, LOC110120745 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC129389215, LOC129389216 +330 more	Deletion	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 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 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 148058	GRCh38/hg38 4q13.3-21.1(chr4:75289409-75573152)x1	LINC02483, LOC123477765 +4 more	Copy number loss	See cases	GUncertain significance
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 3313424	NM_015436.4(RCHY1):c.68A>G (p.Tyr23Cys)	RCHY1, THAP6 (Y23C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3152713	NM_015436.4(RCHY1):c.34G>T (p.Gly12Cys)	RCHY1, THAP6 (G12C)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 3152712	NM_015436.4(RCHY1):c.33C>G (p.Ser11Arg)	RCHY1, THAP6 (A4G +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 775069	NM_015436.4(RCHY1):c.12G>A (p.Thr4=)	RCHY1, THAP6	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2249155	NM_144721.6(THAP6):c.19G>A (p.Ala7Thr)	THAP6 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176910	NM_144721.6(THAP6):c.143A>G (p.Asn48Ser)	THAP6 (N48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299807	NM_144721.6(THAP6):c.154A>G (p.Ile52Val)	THAP6 (I52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176911	NM_144721.6(THAP6):c.178G>T (p.Val60Leu)	THAP6 (V60L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176912	NM_144721.6(THAP6):c.200A>G (p.Lys67Arg)	THAP6 (K67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176913	NM_144721.6(THAP6):c.202A>G (p.Lys68Glu)	THAP6 (K68E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524301	NM_144721.6(THAP6):c.275C>T (p.Pro92Leu)	THAP6 (P92L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230218	NM_144721.6(THAP6):c.337G>A (p.Val113Ile)	THAP6 (V113I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325826	NM_144721.6(THAP6):c.364C>G (p.Leu122Val)	THAP6 (L122V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482036	NM_144721.6(THAP6):c.440G>A (p.Ser147Asn)	THAP6 (S105N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176915	NM_144721.6(THAP6):c.443C>T (p.Pro148Leu)	THAP6 (P106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300769	NM_144721.6(THAP6):c.458A>G (p.His153Arg)	THAP6 (H153R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557654	NM_144721.6(THAP6):c.493A>G (p.Thr165Ala)	THAP6 (T123A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381671	NM_144721.6(THAP6):c.508C>T (p.Arg170Trp)	THAP6 (R170W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325825	NM_144721.6(THAP6):c.604A>G (p.Asn202Asp)	THAP6 (N202D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AFG2A, AFM +537 more	Copy number gain	not provided	GPathogenic
Select item 1527098	GRCh37/hg19 4q13.3-21.1(chr4:75876865-76546874)	CDKL2, ODAPH +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1340346	GRCh37/hg19 4q13.3-21.1(chr4:75617591-76926681)x3	BTC, CDKL2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
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 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562933	GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1	BTC, PARM1 +17 more	Copy number loss	not provided	GUncertain significance
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 45