ClinVar for Gene (Select 83650) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319658	NM_054028.2(SLC35G5):c.12T>A (p.Ser4Arg)	MTMR9, SLC35G5 (S4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319657	NM_054028.2(SLC35G5):c.292C>G (p.Pro98Ala)	MTMR9, SLC35G5 (P98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319656	NM_054028.2(SLC35G5):c.773C>T (p.Ala258Val)	MTMR9, SLC35G5 (A258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242300	GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3	BLK, C8orf74 +48 more	Copy number gain	not provided	GPathogenic
Select item 3164469	NM_054028.2(SLC35G5):c.81G>C (p.Trp27Cys)	MTMR9, SLC35G5 (W27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164468	NM_054028.2(SLC35G5):c.745G>A (p.Asp249Asn)	MTMR9, SLC35G5 (D249N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164467	NM_054028.2(SLC35G5):c.673C>G (p.Leu225Val)	MTMR9, SLC35G5 (L225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164466	NM_054028.2(SLC35G5):c.64C>G (p.Pro22Ala)	MTMR9, SLC35G5 (P22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164465	NM_054028.2(SLC35G5):c.629A>T (p.Tyr210Phe)	MTMR9, SLC35G5 (Y210F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164464	NM_054028.2(SLC35G5):c.53C>T (p.Pro18Leu)	MTMR9, SLC35G5 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164463	NM_054028.2(SLC35G5):c.388G>A (p.Ala130Thr)	MTMR9, SLC35G5 (A130T)	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 3063015	GRCh37/hg19 8p23.1(chr8:10783690-11882401)x3	BLK, CTSB +10 more	Copy number gain	not specified	GUncertain significance
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 2658402	NM_054028.2(SLC35G5):c.387C>T (p.Asn129=)	MTMR9, SLC35G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611245	NM_054028.2(SLC35G5):c.256C>G (p.Leu86Val)	MTMR9, SLC35G5 (L86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2566757	NM_054028.2(SLC35G5):c.400C>T (p.Arg134Cys)	MTMR9, SLC35G5 (R134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552541	NM_054028.2(SLC35G5):c.455A>G (p.Gln152Arg)	MTMR9, SLC35G5 (Q152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552017	NM_054028.2(SLC35G5):c.127G>T (p.Ala43Ser)	MTMR9, SLC35G5 (A43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543238	NM_054028.2(SLC35G5):c.245C>G (p.Pro82Arg)	MTMR9, SLC35G5 (P82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516273	NM_054028.2(SLC35G5):c.884T>C (p.Ile295Thr)	SLC35G5, MTMR9 (I295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509077	NM_054028.2(SLC35G5):c.389C>A (p.Ala130Asp)	SLC35G5, MTMR9 (A130D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465121	NM_054028.2(SLC35G5):c.280C>G (p.Leu94Val)	MTMR9, SLC35G5 (L94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456963	NM_054028.2(SLC35G5):c.97C>G (p.Pro33Ala)	MTMR9, SLC35G5 (P33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410102	NM_054028.2(SLC35G5):c.113A>G (p.Asn38Ser)	MTMR9, SLC35G5 (N38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349543	NM_054028.2(SLC35G5):c.787G>A (p.Ala263Thr)	MTMR9, SLC35G5 (A263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346019	NM_054028.2(SLC35G5):c.337C>T (p.Leu113Phe)	MTMR9, SLC35G5 (L113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323112	NM_054028.2(SLC35G5):c.188A>G (p.Gln63Arg)	MTMR9, SLC35G5 (Q63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300675	NM_054028.2(SLC35G5):c.900G>C (p.Met300Ile)	MTMR9, SLC35G5 (M300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280887	NM_054028.2(SLC35G5):c.55C>A (p.Pro19Thr)	MTMR9, SLC35G5 (P19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255046	NM_054028.2(SLC35G5):c.529C>G (p.Leu177Val)	MTMR9, SLC35G5 (L177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212595	NM_054028.2(SLC35G5):c.406G>T (p.Gly136Cys)	MTMR9, SLC35G5 (G136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1807672	GRCh37/hg19 8p23.1(chr8:11025325-11250236)x3	MTMR9, SLC35G5 +1 more	Copy number gain	not provided	GUncertain significance
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 980850	GRCh37/hg19 8p23.1(chr8:11147024-11945856)x1	BLK, CTSB +9 more	Copy number loss	not provided	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 929827	GRCh37/hg19 8p23.1(chr8:7881478-11860845)x1	NEIL2, PINX1 +23 more	Copy number loss	See cases	GPathogenic
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 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 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 563518	GRCh37/hg19 8p23.1(chr8:10647782-11898980)x1	BLK, CTSB +11 more	Copy number loss	not provided	GPathogenic
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 395457	GRCh37/hg19 8p23.1(chr8:11137243-11188771)x3	MTMR9, SLC35G5	Copy number gain	See cases	GUncertain significance
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 253853	GRCh37/hg19 8p23.1(chr8:10815348-11860230)x3	BLK, CTSB +10 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

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