SLC35G5[gene] - 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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 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 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 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 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	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 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 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	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 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
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 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 more	Copy number gain	See cases	GPathogenic
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 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	LOC129999906, LOC129999907 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	LOC129999824, LOC129999825 +255 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	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 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	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
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	FAM85B, FAM86B1 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 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 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 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 152872	GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1	C8orf74, CLDN23 +124 more	Copy number loss	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 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 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 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, C8orf74 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	PPP1R3B, PPP1R3B-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, C8orf74 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	MTMR9, NEIL2 +160 more	Copy number loss	See cases	GPathogenic
Select item 60348	GRCh38/hg38 8p23.1(chr8:9924272-11573632)x1	BLK, C8orf74 +86 more	Copy number loss	See cases	GPathogenic
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	LOC129999854, LOC129999855 +122 more	Copy number gain	See cases	GPathogenic
Select item 58402	GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3	BLK, C8orf74 +72 more	Copy number gain	See cases	GUncertain significance
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, C8orf74 +116 more	Copy number gain	See cases	GUncertain significance
Select item 57156	GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3	LOC129999890, LOC129999891 +88 more	Copy number gain	See cases	GUncertain significance
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 3164464	NM_054028.2(SLC35G5):c.53C>T (p.Pro18Leu)	MTMR9, SLC35G5 (P18L)	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 3164466	NM_054028.2(SLC35G5):c.64C>G (p.Pro22Ala)	MTMR9, SLC35G5 (P22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2552017	NM_054028.2(SLC35G5):c.127G>T (p.Ala43Ser)	MTMR9, SLC35G5 (A43S)	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 2543238	NM_054028.2(SLC35G5):c.245C>G (p.Pro82Arg)	MTMR9, SLC35G5 (P82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2465121	NM_054028.2(SLC35G5):c.280C>G (p.Leu94Val)	MTMR9, SLC35G5 (L94V)	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 2346019	NM_054028.2(SLC35G5):c.337C>T (p.Leu113Phe)	MTMR9, SLC35G5 (L113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3164463	NM_054028.2(SLC35G5):c.388G>A (p.Ala130Thr)	MTMR9, SLC35G5 (A130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509077	NM_054028.2(SLC35G5):c.389C>A (p.Ala130Asp)	MTMR9, SLC35G5 (A130D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2212595	NM_054028.2(SLC35G5):c.406G>T (p.Gly136Cys)	MTMR9, SLC35G5 (G136C)	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 2255046	NM_054028.2(SLC35G5):c.529C>G (p.Leu177Val)	MTMR9, SLC35G5 (L177V)	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 3164467	NM_054028.2(SLC35G5):c.673C>G (p.Leu225Val)	MTMR9, SLC35G5 (L225V)	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 3319656	NM_054028.2(SLC35G5):c.773C>T (p.Ala258Val)	MTMR9, SLC35G5 (A258V)	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 2516273	NM_054028.2(SLC35G5):c.884T>C (p.Ile295Thr)	MTMR9, SLC35G5 (I295T)	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 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 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 2580324	GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	BLK, C8orf74 +47 more	Copy number gain	8p23.1 duplication syndrome	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 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

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