ClinVar for Gene (Select 23443) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247631	NC_000001.10:g.(?_100316599)_(100459317_?)del	AGL, SLC35A3	Deletion	Glycogen storage disease type III +1 more	GPathogenic
Select item 3164312	NM_012243.3(SLC35A3):c.962A>G (p.Asn321Ser)	SLC35A3 (N321S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3020946	NM_012243.3(SLC35A3):c.465+18G>A	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 3015770	NM_012243.3(SLC35A3):c.342+14A>G	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 3014732	NM_012243.3(SLC35A3):c.753+8A>T	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 3011882	NM_012243.3(SLC35A3):c.285T>C (p.Thr95=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 3003113	NM_012243.3(SLC35A3):c.753+12A>G	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2999722	NM_012243.3(SLC35A3):c.753+7C>T	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2996209	NM_012243.3(SLC35A3):c.287_288del (p.Leu96fs)	SLC35A3 (L138fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 2983583	NM_012243.3(SLC35A3):c.147G>A (p.Leu49=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2983315	NM_012243.3(SLC35A3):c.423G>A (p.Trp141Ter)	SLC35A3 (W141* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 2983166	NM_012243.3(SLC35A3):c.756A>G (p.Ala252=)	SLC35A3	Single nucleotide variant (synonymous variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2972226	NM_012243.3(SLC35A3):c.342+12A>G	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2964260	NM_012243.3(SLC35A3):c.234T>G (p.Leu78=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2918840	NM_012243.3(SLC35A3):c.753+16T>C	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2917293	NM_012243.3(SLC35A3):c.807A>G (p.Leu269=)	SLC35A3	Single nucleotide variant (intron variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2914521	NM_012243.3(SLC35A3):c.732C>T (p.Thr244=)	SLC35A3	Single nucleotide variant (synonymous variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2913530	NM_012243.3(SLC35A3):c.887+25dup	SLC35A3	Duplication (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GBenign
Select item 2913094	NM_012243.3(SLC35A3):c.753+15G>A	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2905846	NM_012243.3(SLC35A3):c.570G>T (p.Gly190=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2893305	NM_012243.3(SLC35A3):c.634+12A>G	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2892589	NM_012243.3(SLC35A3):c.466-9_466-7del	SLC35A3	Microsatellite (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2892483	NM_012243.3(SLC35A3):c.635-3dup	SLC35A3	Duplication (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GBenign
Select item 2892110	NM_012243.3(SLC35A3):c.342+18C>A	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2889965	NM_012243.3(SLC35A3):c.945T>C (p.Asp315=)	SLC35A3	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2883771	NM_012243.3(SLC35A3):c.342+22_342+25del	SLC35A3	Microsatellite (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2882923	NM_012243.3(SLC35A3):c.188-14A>T	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2881944	NM_012243.3(SLC35A3):c.342+18_342+19del	SLC35A3	Deletion (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2862393	NM_012243.3(SLC35A3):c.187+20G>T	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2856710	NM_012243.3(SLC35A3):c.188-12_188-11del	SLC35A3	Microsatellite (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2855115	NM_012243.3(SLC35A3):c.183C>T (p.Asp61=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2850548	NM_012243.3(SLC35A3):c.605_606insGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACAACAGAGCAAGACTCCGTCTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAACA (p.Ser203fs)	SLC35A3 (S203fs +1 more)	Microsatellite (frameshift variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 2844882	NM_012243.3(SLC35A3):c.887+17T>G	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2843677	NM_012243.3(SLC35A3):c.120T>A (p.Ser40=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2843303	NM_012243.3(SLC35A3):c.609_610del (p.Trp205fs)	SLC35A3 (W247fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 2838225	NM_012243.3(SLC35A3):c.466-12C>T	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2836998	NM_012243.3(SLC35A3):c.852C>A (p.Ile284=)	SLC35A3	Single nucleotide variant (synonymous variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2829911	NM_012243.3(SLC35A3):c.894T>C (p.Phe298=)	SLC35A3 (F214S)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2827560	NM_012243.3(SLC35A3):c.634+15T>G	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2823008	NM_012243.3(SLC35A3):c.187+18_187+19dup	SLC35A3	Duplication (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2817682	NM_012243.3(SLC35A3):c.411T>A (p.Gly137=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2817097	NM_012243.3(SLC35A3):c.798T>C (p.Asp266=)	SLC35A3	Single nucleotide variant (synonymous variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2811650	NM_012243.3(SLC35A3):c.430C>T (p.Leu144=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2807529	NM_012243.3(SLC35A3):c.188-1G>T	SLC35A3	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely pathogenic
Select item 2803647	NM_012243.3(SLC35A3):c.187+9C>A	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2795343	NM_012243.3(SLC35A3):c.635-2A>T	SLC35A3	Single nucleotide variant (splice acceptor variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely pathogenic
Select item 2791594	NM_012243.3(SLC35A3):c.846A>G (p.Thr282=)	SLC35A3	Single nucleotide variant (synonymous variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2783637	NM_012243.3(SLC35A3):c.811G>T (p.Gly271Ter)	SLC35A3 (G271* +1 more)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 2770082	NM_012243.3(SLC35A3):c.600A>C (p.Thr200=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2767724	NM_012243.3(SLC35A3):c.205del (p.Ala68_Leu69insTer)	SLC35A3	Deletion (nonsense)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 2765481	NM_012243.3(SLC35A3):c.612G>A (p.Val204=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2754433	NM_012243.3(SLC35A3):c.900T>A (p.Leu300=)	SLC35A3 (L216*)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2750528	NM_012243.3(SLC35A3):c.597A>G (p.Glu199=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2747801	NM_012243.3(SLC35A3):c.69A>T (p.Thr23=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2745528	NM_012243.3(SLC35A3):c.343-14G>C	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2745398	NM_012243.3(SLC35A3):c.466-18A>G	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2744749	NM_012243.3(SLC35A3):c.474A>G (p.Ser158=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2743892	NM_012243.3(SLC35A3):c.343-15T>C	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2741483	NM_012243.3(SLC35A3):c.168A>G (p.Leu56=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2740642	NM_012243.3(SLC35A3):c.888-13del	SLC35A3	Deletion (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2739957	NM_012243.3(SLC35A3):c.754-18del	SLC35A3	Deletion (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2739104	NM_012243.3(SLC35A3):c.891C>A (p.Val297=)	SLC35A3 (S213Y)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2736290	NM_012243.3(SLC35A3):c.588_589del (p.Leu197fs)	SLC35A3 (L197fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 2736278	NM_012243.3(SLC35A3):c.42C>A (p.Val14=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2731881	NM_012243.3(SLC35A3):c.313C>T (p.Leu105=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2728033	NM_012243.3(SLC35A3):c.635-14_635-13del	SLC35A3	Deletion (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2712071	NM_012243.3(SLC35A3):c.343-18T>C	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2709557	NM_012243.3(SLC35A3):c.741A>G (p.Val247=)	SLC35A3	Single nucleotide variant (synonymous variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2706387	NM_012243.3(SLC35A3):c.687A>G (p.Glu229=)	SLC35A3	Single nucleotide variant (synonymous variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2705545	NM_012243.3(SLC35A3):c.951A>G (p.Lys317=)	SLC35A3	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2703435	NM_012243.3(SLC35A3):c.546A>T (p.Ala182=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2701553	NM_012243.3(SLC35A3):c.534A>G (p.Ala178=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2694181	NM_012243.3(SLC35A3):c.123A>G (p.Thr41=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2685813	GRCh37/hg19 1p21.2(chr1:99854049-100524271)x3	AGL, FRRS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 2472182	NM_012243.3(SLC35A3):c.104C>G (p.Pro35Arg)	SLC35A3 (P35R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436022	NM_012243.3(SLC35A3):c.754-1G>T	SLC35A3	Single nucleotide variant (splice acceptor variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2436021	NM_012243.3(SLC35A3):c.826_827del (p.Leu276fs)	SLC35A3 (L276fs +1 more)	Deletion (frameshift variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2425785	NC_000001.10:g.(?_100316599)_(100488032_?)dup	SLC35A3, AGL	Duplication	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2425784	NC_000001.10:g.(?_100436083)_(100477099_?)del	SLC35A3	Deletion	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 2425783	NC_000001.10:g.(?_100316589)_(100483381_?)del	AGL, SLC35A3	Deletion	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 2424320	NC_000001.10:g.(?_100316599)_(101709564_?)dup	AGL, CDC14A +13 more	Duplication	Maple syrup urine disease	GUncertain significance
Select item 2421208	NM_012243.3(SLC35A3):c.756A>T (p.Ala252=)	SLC35A3	Single nucleotide variant (synonymous variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2420374	NM_012243.3(SLC35A3):c.726A>C (p.Arg242=)	SLC35A3	Single nucleotide variant (synonymous variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2415865	NM_012243.3(SLC35A3):c.754_755del (p.Ala252fs)	SLC35A3 (A252fs +1 more)	Deletion (frameshift variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 2413902	NM_012243.3(SLC35A3):c.738A>G (p.Ile246Met)	SLC35A3 (I246M +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2247718	NM_012243.3(SLC35A3):c.626T>C (p.Ile209Thr)	SLC35A3 (I209T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244309	NM_012243.3(SLC35A3):c.175T>C (p.Tyr59His)	SLC35A3 (Y101H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230714	NM_012243.3(SLC35A3):c.571G>A (p.Val191Ile)	SLC35A3 (V191I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201065	NM_012243.3(SLC35A3):c.269C>T (p.Pro90Leu)	SLC35A3 (P132L +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2199991	NM_012243.3(SLC35A3):c.634+11_634+12dup	SLC35A3	Duplication (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2181451	NM_012243.3(SLC35A3):c.92AAG[2] (p.Glu33del)	SLC35A3 (E33del +1 more)	Microsatellite (inframe_deletion)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2181034	NM_012243.3(SLC35A3):c.248A>C (p.Glu83Ala)	SLC35A3 (E83A +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2176187	NM_012243.3(SLC35A3):c.28C>T (p.Leu10=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2169755	NM_012243.3(SLC35A3):c.736A>G (p.Ile246Val)	SLC35A3 (I246V +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2153562	NM_012243.3(SLC35A3):c.339T>C (p.Tyr113=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2131386	NM_012243.3(SLC35A3):c.429C>T (p.Ser143=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2128823	NM_012243.3(SLC35A3):c.579T>C (p.Phe193=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2125837	NM_012243.3(SLC35A3):c.96A>G (p.Glu32=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2107218	NM_012243.3(SLC35A3):c.340C>T (p.Gln114Ter)	SLC35A3 (Q114* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic

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