THAP5[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 148365	GRCh38/hg38 7q31.1(chr7:108559438-109009742)x1	DNAJB9, LINC02903 +4 more	Copy number loss	See cases	GLikely benign
Select item 2302903	NM_001130475.3(THAP5):c.961G>C (p.Glu321Gln)	THAP5 (E159Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259346	NM_001130475.3(THAP5):c.957A>T (p.Gln319His)	THAP5 (Q157H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379999	NM_001130475.3(THAP5):c.869C>T (p.Ser290Phe)	THAP5 (S128F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176908	NM_001130475.3(THAP5):c.799A>C (p.Asn267His)	THAP5 (N105H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289811	NM_001130475.3(THAP5):c.752C>T (p.Pro251Leu)	THAP5 (P251L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389409	NM_001130475.3(THAP5):c.716G>A (p.Ser239Asn)	THAP5 (S239N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381369	NM_001130475.3(THAP5):c.716G>C (p.Ser239Thr)	THAP5 (S197T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325822	NM_001130475.3(THAP5):c.709T>G (p.Phe237Val)	THAP5 (F75V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176907	NM_001130475.3(THAP5):c.709T>C (p.Phe237Leu)	THAP5 (F75L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345719	NM_001130475.3(THAP5):c.698C>T (p.Ala233Val)	THAP5 (A233V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325819	NM_001130475.3(THAP5):c.685A>G (p.Thr229Ala)	THAP5 (T187A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485456	NM_001130475.3(THAP5):c.610A>G (p.Thr204Ala)	THAP5 (T204A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325820	NM_001130475.3(THAP5):c.400G>C (p.Asp134His)	THAP5 (D134H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382029	NM_001130475.3(THAP5):c.392T>A (p.Val131Asp)	THAP5 (V131D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556655	NM_001130475.3(THAP5):c.391G>A (p.Val131Ile)	THAP5 (V131I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280097	NM_001130475.3(THAP5):c.364G>A (p.Val122Ile)	THAP5 (V122I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480935	NM_001130475.3(THAP5):c.257T>G (p.Leu86Trp)	THAP5 (L44W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325823	NM_001130475.3(THAP5):c.214A>T (p.Ile72Phe)	THAP5 (I72F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325821	NM_001130475.3(THAP5):c.155A>T (p.Lys52Ile)	THAP5 (K10I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176909	NM_001130475.3(THAP5):c.91C>A (p.His31Asn)	THAP5 (H31N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176906	NM_001130475.3(THAP5):c.47G>A (p.Arg16Gln)	THAP5 (R16Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348234	NM_001130475.3(THAP5):c.40C>G (p.Arg14Gly)	THAP5 (R14G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176905	NM_001130475.3(THAP5):c.26G>A (p.Cys9Tyr)	THAP5 (C9Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2684503	GRCh37/hg19 7q31.1(chr7:107981349-110641907)x3	DNAJB9, IMMP2L +4 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527384	GRCh37/hg19 7q31.1(chr7:108099153-108503957)	DNAJB9, PNPLA8 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 815016	GRCh37/hg19 7q31.1(chr7:108094786-108494963)x3	PNPLA8, DNAJB9 +2 more	Copy number gain	not provided	GLikely benign
Select item 815015	GRCh37/hg19 7q31.1(chr7:107441501-108433812)x1	PNPLA8, DLD +6 more	Copy number loss	not provided	GUncertain significance
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686475	GRCh37/hg19 7q31.1(chr7:107786826-112356275)x1	DNAJB9, DOCK4 +9 more	Copy number loss	not provided	GUncertain significance
Select item 686057	GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	ASZ1, BMT2 +34 more	Copy number loss	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 48