ClinVar for Gene (Select 157695) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3325172	NM_001384899.1(TDRP):c.130G>A (p.Gly44Ser)	TDRP (G44S)	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 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 3175559	NM_001384899.1(TDRP):c.353A>G (p.Asp118Gly)	TDRP (D118G)	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 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 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 2671622	Single allele	AGPAT5, ANGPT2 +22 more	Deletion	not provided	GPathogenic
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 2597638	NM_001384899.1(TDRP):c.425G>C (p.Gly142Ala)	TDRP (G142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580354	GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1	TDRP, ZNF596 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 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 2557060	NM_001384899.1(TDRP):c.79C>T (p.Pro27Ser)	TDRP (P27S)	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 2481343	NM_001384899.1(TDRP):c.419C>T (p.Ala140Val)	TDRP (A140V)	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 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 2393208	NM_001384899.1(TDRP):c.359C>T (p.Ser120Leu)	TDRP (S120L)	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 2354593	NM_001384899.1(TDRP):c.379G>A (p.Val127Met)	TDRP (V127M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2296017	NM_001384899.1(TDRP):c.40C>A (p.Pro14Thr)	TDRP (P14T)	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 2284839	NM_001384899.1(TDRP):c.124T>G (p.Phe42Val)	TDRP (F42V)	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 2240626	NM_001384899.1(TDRP):c.214A>G (p.Thr72Ala)	TDRP (T72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809188	GRCh37/hg19 8p23.3(chr8:423724-760393)x3	ERICH1, TDRP	Copy number gain	not provided	GUncertain significance
Select item 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1808425	GRCh37/hg19 8p23.3-23.2(chr8:158049-4608757)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 1807783	GRCh37/hg19 8p23.3-23.2(chr8:158049-5033424)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1708195	GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	AGPAT5, ANGPT2 +56 more	Copy number loss	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703666	GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413)	AGPAT5, ANGPT2 +46 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527419	GRCh37/hg19 8p23.3-23.2(chr8:158048-2707158)	ARHGEF10, CLN8 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 1330178	GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1	FBXO25, USP17L4 +22 more	Copy number loss	Single transverse palmar crease +6 more	GPathogenic
Select item 1328106	GRCh37/hg19 8p23.3-23.2(chr8:162190-4698813)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980867	GRCh37/hg19 8p23.3(chr8:158048-2081207)x1	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GPathogenic
Select item 980866	GRCh37/hg19 8p23.3(chr8:158048-1411510)x1	ERICH1, FBXO25 +2 more	Copy number loss	not provided	GPathogenic
Select item 979227	GRCh37/hg19 8p23.3-23.2(chr8:158048-3476104)x1	MYOM2, TDRP +8 more	Copy number loss	not provided	GPathogenic
Select item 979225	GRCh37/hg19 8p23.3-23.1(chr8:411691-6999114)x1	AGPAT5, ANGPT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 979224	GRCh37/hg19 8p23.3(chr8:370223-572032)x3	FBXO25, TDRP	Copy number gain	not provided	GUncertain significance
Select item 974794	GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1	DEFB106B, XKR5 +57 more	Copy number loss	Intellectual disability +1 more	GPathogenic
Select item 815067	GRCh37/hg19 8p23.3-23.2(chr8:158048-4188901)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 815066	GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1	AGPAT5, ANGPT2 +43 more	Copy number loss	not provided	GPathogenic
Select item 815065	GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3	AGPAT5, ANGPT2 +39 more	Copy number gain	not provided	GPathogenic
Select item 815064	GRCh37/hg19 8p23.3(chr8:158048-704967)x3	ERICH1, ZNF596 +2 more	Copy number gain	not provided	GLikely benign
Select item 815063	GRCh37/hg19 8p23.3(chr8:158048-526563)x3	ZNF596, TDRP +1 more	Copy number gain	not provided	GLikely benign
Select item 688520	GRCh37/hg19 8p23.3-23.1(chr8:158048-6828766)x1	AGPAT5, ANGPT2 +15 more	Copy number loss	not provided	GPathogenic
Select item 688425	GRCh37/hg19 8p23.3-23.1(chr8:158048-6219809)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687060	GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	USP17L4, USP17L7 +75 more	Copy number loss	not provided	GPathogenic
Select item 686653	GRCh37/hg19 8p23.3(chr8:158048-1737931)x1	CLN8, DLGAP2 +4 more	Copy number loss	not provided	GPathogenic
Select item 686293	GRCh37/hg19 8p23.3-23.1(chr8:158048-6984438)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 685709	GRCh37/hg19 8p23.3(chr8:492926-947746)x3	ERICH1, TDRP	Copy number gain	not provided	GUncertain significance
Select item 685634	GRCh37/hg19 8p23.3-23.1(chr8:158048-6969688)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 685445	GRCh37/hg19 8p23.3-23.1(chr8:158048-6940661)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 684955	GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1	AGPAT5, ANGPT2 +43 more	Copy number loss	not provided	GPathogenic
Select item 626289	Single allele	AGPAT5, ANGPT2 +19 more	Deletion	not provided	GLikely pathogenic
Select item 625670	GRCh37/hg19 8p23.3-23.1(chr8:184617-6804328)	AGPAT5, ANGPT2 +15 more	Copy number gain	not provided	GPathogenic
Select item 625669	GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)	AGPAT5, ANGPT2 +37 more	Copy number loss	Tetralogy of Fallot	GPathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 625667	GRCh37/hg19 8p23.3(chr8:184617-2136799)	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 624505	GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1	AGPAT5, ANGPT2 +36 more	Copy number loss	not provided	GLikely pathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	LONRF1, NEIL2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	DEFB105A, USP17L1 +75 more	Copy number gain	not provided	GPathogenic
Select item 563548	GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2	MTMR9, MYOM2 +73 more	Copy number gain	not provided	GPathogenic
Select item 563547	GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 563545	GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3	AGPAT5, ANGPT2 +44 more	Copy number gain	not provided	GPathogenic
Select item 563543	GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 563540	GRCh37/hg19 8p23.3-23.2(chr8:158048-4847772)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 563533	GRCh37/hg19 8p23.3-23.2(chr8:158048-3096405)x3	ARHGEF10, CLN8 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563521	GRCh37/hg19 8p23.3(chr8:158048-1554662)x1	DLGAP2, ERICH1 +3 more	Copy number loss	not provided	GPathogenic
Select item 523290	GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)	AGPAT5, ANGPT2 +15 more	Copy number loss	Autism +7 more	GPathogenic
Select item 523289	GRCh37/hg19 8p23.3-23.1(chr8:191530-6644251)	ERICH1, FBXO25 +11 more	Copy number loss	Intellectual disability	GPathogenic
Select item 443996	GRCh37/hg19 8p23.3-23.1(chr8:158048-7044046)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	See cases	GPathogenic
Select item 443971	GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x3	AGPAT5, ANGPT2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443921	GRCh37/hg19 8p23.3-23.1(chr8:158048-9749574)x1	AGPAT5, ANGPT2 +44 more	Copy number loss	See cases	GPathogenic
Select item 443920	GRCh37/hg19 8p23.3-23.2(chr8:158048-5474927)x1	ARHGEF10, CLN8 +8 more	Copy number loss	See cases	GPathogenic
Select item 442870	GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1	AGPAT5, ANGPT2 +73 more	Copy number loss	See cases	GLikely pathogenic

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