26951[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 60328	GRCh38/hg38 8p23.3(chr8:202100-2017223)x1	LOC126860273, LOC126860274 +49 more	Copy number loss	See cases	GPathogenic
Select item 155691	GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GPathogenic
Select item 155587	GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1	ARHGEF10, CLN8 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 155445	GRCh38/hg38 8p23.3(chr8:208048-1576545)x3	DLGAP2, DLGAP2-AS1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 155440	GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 155311	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GUncertain significance
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 151750	GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 151132	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60330	GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60329	GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1	ARHGEF10, CLN8 +68 more	Copy number loss	See cases	GPathogenic
Select item 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 155178	GRCh38/hg38 8p23.3(chr8:226452-1670285)x1	LOC105377777, DLGAP2 +32 more	Copy number loss	See cases	GUncertain significance
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154744	GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1	ARHGEF10, CLN8 +69 more	Copy number loss	See cases	GUncertain significance
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 152253	GRCh38/hg38 8p23.3(chr8:226452-2017223)x1	ARHGEF10, CLN8 +48 more	Copy number loss	See cases	GPathogenic
Select item 150616	GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150497	GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1	LOC126860267, LOC126860268 +126 more	Copy number loss	See cases	GPathogenic
Select item 150139	GRCh38/hg38 8p23.3-23.2(chr8:226452-2767932)x1	ARHGEF10, CLN8 +59 more	Copy number loss	See cases	GUncertain significance
Select item 149175	GRCh38/hg38 8p23.3(chr8:226452-1073572)x1	DLGAP2, ERICH1 +20 more	Copy number loss	See cases	GUncertain significance
Select item 149174	GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3	AGPAT5, ANGPT2 +172 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 148183	GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GLikely pathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 more	Copy number gain	See cases	GPathogenic
Select item 160883	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	AGPAT5, ANGPT2 +256 more	Copy number loss	See cases	GPathogenic
Select item 147663	GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 147569	GRCh38/hg38 8p23.3-23.2(chr8:241530-3331813)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 146114	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3	DEFA6, DEFB1 +123 more	Copy number gain	See cases	GPathogenic
Select item 145578	GRCh38/hg38 8p23.3-23.2(chr8:241530-3212774)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	LOC129999826, LOC129999827 +253 more	Copy number loss	See cases	GPathogenic
Select item 60342	GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GPathogenic
Select item 60341	GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 57311	GRCh38/hg38 8p23.3(chr8:241530-1371695)x1	DLGAP2, ERICH1 +26 more	Copy number loss	See cases	GPathogenic
Select item 57012	GRCh38/hg38 8p23.3(chr8:241530-764384)x1	DLGAP2, ERICH1 +13 more	Copy number loss	See cases	GPathogenic
Select item 34125	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 32742	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 146751	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 146750	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3	LOC132089596, LOC132089598 +123 more	Copy number gain	See cases	GPathogenic
Select item 161035	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 32497	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 145967	GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1	AGPAT5, ANGPT2 +135 more	Copy number loss	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 149482	GRCh38/hg38 8p23.3(chr8:451226-492359)x3	FBXO25, TDRP	Copy number gain	See cases	GLikely benign
Select item 145382	GRCh38/hg38 8p23.3(chr8:451226-611272)x3	FBXO25, TDRP	Copy number gain	See cases	GBenign
Select item 153617	GRCh38/hg38 8p23.3(chr8:491797-1433054)x3	DLGAP2, ERICH1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2681581	NM_001384899.1(TDRP):c.543G>A (p.Pro181=)	TDRP	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2407867	NM_001384899.1(TDRP):c.542C>T (p.Pro181Leu)	TDRP (P181L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175560	NM_001384899.1(TDRP):c.526C>T (p.His176Tyr)	TDRP (H176Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597638	NM_001384899.1(TDRP):c.425G>C (p.Gly142Ala)	TDRP (G142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481343	NM_001384899.1(TDRP):c.419C>T (p.Ala140Val)	TDRP (A140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614180	NM_001384899.1(TDRP):c.416A>T (p.Asp139Val)	TDRP (D139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372311	NM_001384899.1(TDRP):c.398G>T (p.Trp133Leu)	TDRP (W133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547897	NM_001384899.1(TDRP):c.395C>G (p.Ser132Cys)	TDRP (S132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354593	NM_001384899.1(TDRP):c.379G>A (p.Val127Met)	TDRP (V127M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393208	NM_001384899.1(TDRP):c.359C>T (p.Ser120Leu)	TDRP (S120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175559	NM_001384899.1(TDRP):c.353A>G (p.Asp118Gly)	TDRP (D118G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254105	NM_001384899.1(TDRP):c.266G>T (p.Trp89Leu)	TDRP (W89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325174	NM_001384899.1(TDRP):c.232G>C (p.Glu78Gln)	TDRP (E78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240626	NM_001384899.1(TDRP):c.214A>G (p.Thr72Ala)	TDRP (T72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175558	NM_001384899.1(TDRP):c.203A>G (p.Lys68Arg)	TDRP (K68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458083	NM_001384899.1(TDRP):c.203A>C (p.Lys68Thr)	TDRP (K68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287688	NM_001384899.1(TDRP):c.199C>A (p.Pro67Thr)	TDRP (P67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333722	NM_001384899.1(TDRP):c.176A>G (p.His59Arg)	TDRP (H59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325172	NM_001384899.1(TDRP):c.130G>A (p.Gly44Ser)	TDRP (G44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284839	NM_001384899.1(TDRP):c.124T>G (p.Phe42Val)	TDRP (F42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148202	GRCh38/hg38 8p23.3(chr8:543981-655843)x1	ERICH1, LOC126860266 +1 more	Copy number loss	See cases	GLikely benign
Select item 2557060	NM_001384899.1(TDRP):c.79C>T (p.Pro27Ser)	TDRP (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325171	NM_001384899.1(TDRP):c.70G>A (p.Gly24Arg)	TDRP (G24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325170	NM_001384899.1(TDRP):c.58G>A (p.Gly20Ser)	TDRP (G20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296017	NM_001384899.1(TDRP):c.40C>A (p.Pro14Thr)	TDRP (P14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063018	GRCh37/hg19 8p23.3-23.2(chr8:158048-5813459)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685285	GRCh37/hg19 8p23.3(chr8:406041-695480)x1	ERICH1, FBXO25 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685284	GRCh37/hg19 8p23.3(chr8:158049-2190480)x1	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685283	GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1	DEFB104A, DEFB104B +39 more	Copy number loss	not provided	GPathogenic
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB105A, DEFB107B +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2685280	GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1	CLN8, CSMD1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2684516	GRCh37/hg19 8p23.3(chr8:334171-1108571)x3	ERICH1, FBXO25 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684515	GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3	AGPAT5, ANGPT2 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2684514	GRCh37/hg19 8p23.3-23.2(chr8:158049-5762015)x3	ARHGEF10, CLN8 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2671622	Single allele	AGPAT5, ANGPT2 +22 more	Deletion	not provided	GPathogenic

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