ClinVar for Gene (Select 203076) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242300	GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3	BLK, C8orf74 +48 more	Copy number gain	not provided	GPathogenic
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 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	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 2684525	GRCh37/hg19 8p23.1(chr8:10416502-11323281)x3	C8orf74, FAM167A +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
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 2580324	GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	BLK, C8orf74 +47 more	Copy number gain	8p23.1 duplication syndrome	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 2372831	NM_001040032.2(C8orf74):c.647A>C (p.Gln216Pro)	C8orf74 (Q216P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368916	NM_001040032.2(C8orf74):c.362A>C (p.His121Pro)	C8orf74 (H121P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344684	NM_001040032.2(C8orf74):c.645A>C (p.Arg215Ser)	C8orf74 (R215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335477	NM_001040032.2(C8orf74):c.68G>A (p.Arg23His)	C8orf74 (R23H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220371	NM_001040032.2(C8orf74):c.787A>C (p.Thr263Pro)	C8orf74 (T263P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809268	GRCh37/hg19 8p23.1(chr8:10549767-10688997)x1	C8orf74, PINX1 +1 more	Copy number loss	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 1807804	GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1	CTSB, DEFB130A +29 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 1703667	GRCh37/hg19 8p23.1(chr8:8093168-11898980)	C8orf74, RP1L1 +23 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 1466701	NC_000008.10:g.(?_9912027)_(11710963_?)del	BLK, C8orf74 +14 more	Deletion	not provided	GUncertain significance
Select item 1410533	NC_000008.10:g.(?_9912027)_(11710963_?)dup	BLK, C8orf74 +14 more	Duplication	not provided	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 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
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 973603	GRCh37/hg19 8p23.1(chr8:9598226-10803255)x1	PINX1, PRSS51 +8 more	Copy number loss	Intellectual disability	GUncertain significance
Select item 929827	GRCh37/hg19 8p23.1(chr8:7881478-11860845)x1	NEIL2, PINX1 +23 more	Copy number loss	See cases	GPathogenic
Select item 815096	GRCh37/hg19 8p23.1(chr8:10025860-10561155)x3	PRSS55, RP1L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815087	GRCh37/hg19 8p23.1(chr8:8093169-11272546)x1	MIR124-1, MSRA +14 more	Copy number loss	not provided	GPathogenic
Select item 815086	GRCh37/hg19 8p23.1(chr8:8093169-11936001)x1	C8orf74, CLDN23 +23 more	Copy number loss	not provided	GPathogenic
Select item 815085	GRCh37/hg19 8p23.1(chr8:8093065-11881742)x3	NEIL2, PINX1 +23 more	Copy number gain	not provided	GPathogenic
Select item 815083	GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3	DEFB105B, DEFB106A +43 more	Copy number gain	not provided	GPathogenic
Select item 688534	GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1	BLK, C8orf74 +23 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 687652	GRCh37/hg19 8p23.1(chr8:8093065-11882913)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 687528	GRCh37/hg19 8p23.1(chr8:8093169-11888779)x3	PRSS51, PRSS55 +23 more	Copy number gain	not provided	GPathogenic
Select item 687158	GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3	BLK, C8orf74 +23 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 686805	GRCh37/hg19 8p23.1(chr8:10128928-10615711)x1	C8orf74, MSRA +4 more	Copy number loss	not provided	GUncertain significance
Select item 686541	GRCh37/hg19 8p23.1(chr8:8102723-11936107)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 686056	GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 635939	Single allele	FDFT1, NEIL2 +24 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 625634	GRCh37/hg19 8p23.1(chr8:8403375-11805960)	BLK, C8orf74 +20 more	Copy number loss	Tetralogy of Fallot	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
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 563541	GRCh37/hg19 8p23.1(chr8:6999219-11898980)x3	DEFB105B, DEFB106A +43 more	Copy number gain	not provided	GPathogenic
Select item 563539	GRCh37/hg19 8p23.1(chr8:8093065-11945855)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 563538	GRCh37/hg19 8p23.1(chr8:8093169-11935465)x1	DEFB135, PRSS55 +23 more	Copy number loss	not provided	GPathogenic
Select item 563537	GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1	BLK, C8orf74 +23 more	Copy number loss	not provided	GPathogenic
Select item 563536	GRCh37/hg19 8p23.1(chr8:8119295-11765719)x3	BLK, C8orf74 +20 more	Copy number gain	not provided	GPathogenic
Select item 563505	GRCh37/hg19 8p23.1(chr8:9952770-10603276)x3	MSRA, RP1L1 +4 more	Copy number gain	not provided	GLikely pathogenic
Select item 442870	GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1	AGPAT5, ANGPT2 +73 more	Copy number loss	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441602	GRCh37/hg19 8p23.1(chr8:10110508-11882401)x3	BLK, C8orf74 +17 more	Copy number gain	See cases	GLikely pathogenic
Select item 441584	GRCh37/hg19 8p23.1(chr8:8093169-11881742)x1	BLK, C8orf74 +23 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394656	GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4	AGPAT5, ANGPT2 +86 more	Copy number gain	See cases	GPathogenic
Select item 253963	GRCh37/hg19 8p23.1(chr8:10444735-10828411)x3	PINX1, RP1L1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253407	GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3	DEFB135, DEFB136 +73 more	Copy number gain	See cases	GPathogenic
Select item 252967	GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	See cases	GPathogenic
Select item 221719	GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1	BLK, C8orf74 +28 more	Copy number loss	Premature ovarian failure	GPathogenic
Select item 219040	GRCh37/hg19 8p23.1(chr8:8127723-11858461)x1	SLC35G5, SOX7 +23 more	Copy number loss	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, C8orf74 +195 more	Copy number loss	See cases	GPathogenic
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 153058	GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3	C8orf74, CRE3 +67 more	Copy number gain	See cases	GPathogenic
Select item 152960	GRCh38/hg38 8p23.1(chr8:9456230-11013618)x1	C8orf74, CRE3 +34 more	Copy number loss	See cases	GPathogenic
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 152872	GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1	C8orf74, CLDN23 +124 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, C8orf74 +116 more	Copy number gain	See cases	GUncertain significance
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150794	GRCh38/hg38 8p23.1(chr8:10379998-10970694)x3	C8orf74, CRE3 +18 more	Copy number gain	See cases	GUncertain significance
Select item 150028	GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	AGPAT5, ANGPT2 +259 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 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 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 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, C8orf74 +199 more	Copy number gain	See cases	GLikely pathogenic

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