ClinVar for Gene (Select 2591) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358688	NM_004482.4(GALNT3):c.1022C>T (p.Ser341Leu)	GALNT3 (S341L)	Single nucleotide variant (missense variant)	GALNT3-related disorder	GUncertain significance
Select item 3356932	NM_004482.4(GALNT3):c.184A>T (p.Met62Leu)	GALNT3 (M62L)	Single nucleotide variant (missense variant)	GALNT3-related disorder	GUncertain significance
Select item 3280626	NM_004482.4(GALNT3):c.1112A>G (p.Lys371Arg)	GALNT3 (K371R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280625	NM_004482.4(GALNT3):c.209T>C (p.Val70Ala)	GALNT3 (V70A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247527	NC_000002.11:g.(?_166611117)_(166621586_?)dup	GALNT3	Duplication	not provided	GLikely pathogenic
Select item 3247526	NC_000002.11:g.(?_166611117)_(166613777_?)del	GALNT3	Deletion	not provided	GPathogenic
Select item 3247525	NC_000002.11:g.(?_166611117)_(166621586_?)del	GALNT3	Deletion	not provided	GPathogenic
Select item 3247523	NC_000002.11:g.(?_166626676)_(166627210_?)del	GALNT3	Deletion	not provided	GPathogenic
Select item 3098164	NM_004482.4(GALNT3):c.608G>A (p.Arg203Lys)	GALNT3 (R203K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098163	NM_004482.4(GALNT3):c.1846G>A (p.Val616Met)	GALNT3 (V616M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098162	NM_004482.4(GALNT3):c.1658G>A (p.Arg553Gln)	GALNT3 (R553Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098161	NM_004482.4(GALNT3):c.1212G>T (p.Gln404His)	GALNT3 (Q404H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062662	GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1	ABCB11, B3GALT1 +14 more	Copy number loss	not specified	GPathogenic
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3020032	NM_004482.4(GALNT3):c.516-7C>A	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016517	NM_004482.4(GALNT3):c.838+9A>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012464	NM_004482.4(GALNT3):c.1758G>A (p.Glu586=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011292	NM_004482.4(GALNT3):c.1260A>G (p.Lys420=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010460	NM_004482.4(GALNT3):c.1393-14T>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009092	NM_004482.4(GALNT3):c.781C>G (p.Arg261Gly)	GALNT3 (R261G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006460	NM_004482.4(GALNT3):c.255T>C (p.Pro85=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004178	NM_004482.4(GALNT3):c.516-20A>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002504	NM_004482.4(GALNT3):c.1779+12C>A	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994740	NM_004482.4(GALNT3):c.1815C>T (p.Cys605=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993510	NM_004482.4(GALNT3):c.942del (p.Phe314fs)	GALNT3 (F314fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2991659	NM_004482.4(GALNT3):c.149C>G (p.Ser50Ter)	GALNT3 (S50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2991517	NM_004482.4(GALNT3):c.516-7C>T	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991177	NM_004482.4(GALNT3):c.515+18_515+21del	GALNT3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2988432	NM_004482.4(GALNT3):c.781C>A (p.Arg261=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985276	NM_004482.4(GALNT3):c.688+14T>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984146	NM_004482.4(GALNT3):c.1587A>G (p.Pro529=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980670	NM_004482.4(GALNT3):c.585T>C (p.Asn195=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980608	NM_004482.4(GALNT3):c.708A>G (p.Leu236=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974339	NM_004482.4(GALNT3):c.744A>T (p.Ile248=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973729	NM_004482.4(GALNT3):c.1773C>T (p.Ile591=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968806	NM_004482.4(GALNT3):c.1524+15G>A	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968641	NM_004482.4(GALNT3):c.801C>A (p.Val267=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968576	NM_004482.4(GALNT3):c.201A>G (p.Leu67=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964210	NM_004482.4(GALNT3):c.1854C>T (p.Cys618=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963287	NM_004482.4(GALNT3):c.1780-4C>A	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962694	NM_004482.4(GALNT3):c.688+20T>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957848	NM_004482.4(GALNT3):c.931C>T (p.Leu311=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957536	NM_004482.4(GALNT3):c.1674G>A (p.Lys558=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957486	NM_004482.4(GALNT3):c.717T>C (p.Tyr239=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955399	NM_004482.4(GALNT3):c.1191+16T>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919916	NM_004482.4(GALNT3):c.839-16A>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2919872	NM_004482.4(GALNT3):c.1062C>T (p.Thr354=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919821	NM_004482.4(GALNT3):c.1711C>T (p.Leu571=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918567	NM_004482.4(GALNT3):c.867T>A (p.Pro289=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918239	NM_004482.4(GALNT3):c.838+1G>C	GALNT3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2917479	NM_004482.4(GALNT3):c.801C>T (p.Val267=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917475	NM_004482.4(GALNT3):c.1627-13A>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917249	NM_004482.4(GALNT3):c.646C>T (p.Leu216=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916619	NM_004482.4(GALNT3):c.1524+9T>A	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916073	NM_004482.4(GALNT3):c.1110A>G (p.Ser370=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910848	NM_004482.4(GALNT3):c.1533C>T (p.Ser511=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910787	NM_004482.4(GALNT3):c.1524+11T>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910722	NM_004482.4(GALNT3):c.1023G>A (p.Ser341=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909048	NM_004482.4(GALNT3):c.1779+16T>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904250	NM_004482.4(GALNT3):c.838+14T>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903467	NM_004482.4(GALNT3):c.6T>C (p.Ala2=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902453	NM_004482.4(GALNT3):c.1548A>G (p.Leu516=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900321	NM_004482.4(GALNT3):c.1313G>T (p.Arg438Leu)	GALNT3 (R438L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2899152	NM_004482.4(GALNT3):c.1073+13C>T	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897161	NM_004482.4(GALNT3):c.753A>G (p.Gln251=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897019	NM_004482.4(GALNT3):c.1302A>G (p.Arg434=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892281	NM_004482.4(GALNT3):c.645A>T (p.Ile215=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891844	NM_004482.4(GALNT3):c.1140T>A (p.Tyr380Ter)	GALNT3 (Y380*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2889808	NM_004482.4(GALNT3):c.996C>T (p.Asp332=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888845	NM_004482.4(GALNT3):c.1134A>G (p.Gly378=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885464	NM_004482.4(GALNT3):c.245dup (p.Gly83fs)	GALNT3 (G83fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2882400	NM_004482.4(GALNT3):c.84T>C (p.Phe28=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878601	NM_004482.4(GALNT3):c.1626+11C>T	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877969	NM_004482.4(GALNT3):c.1761G>A (p.Gln587=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877121	NM_004482.4(GALNT3):c.945A>G (p.Glu315=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873191	NM_004482.4(GALNT3):c.1035T>C (p.His345=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869619	NM_004482.4(GALNT3):c.1770G>A (p.Glu590=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869375	NM_004482.4(GALNT3):c.689-10T>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866675	NM_004482.4(GALNT3):c.1368A>C (p.Thr456=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864793	NM_004482.4(GALNT3):c.319T>C (p.Leu107=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863517	NM_004482.4(GALNT3):c.1074-9A>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859309	NM_004482.4(GALNT3):c.1097T>G (p.Leu366Arg)	GALNT3 (L366R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2858257	NM_004482.4(GALNT3):c.1284C>T (p.Gly428=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857923	NM_004482.4(GALNT3):c.1779+18A>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856579	NM_004482.4(GALNT3):c.1779+11G>A	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851890	NM_004482.4(GALNT3):c.1593T>C (p.Ile531=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850564	NM_004482.4(GALNT3):c.399A>G (p.Leu133=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849477	NM_004482.4(GALNT3):c.1525-19C>A	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849360	NM_004482.4(GALNT3):c.1728C>A (p.Tyr576Ter)	GALNT3 (Y576*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2847266	NM_004482.4(GALNT3):c.1638C>T (p.Tyr546=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845685	NM_004482.4(GALNT3):c.15G>A (p.Lys5=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845598	NM_004482.4(GALNT3):c.1619del (p.Gly540fs)	GALNT3 (G540fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2845365	NM_004482.4(GALNT3):c.1626+2T>G	GALNT3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2842754	NM_004482.4(GALNT3):c.1074-4T>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837764	NM_004482.4(GALNT3):c.1219A>T (p.Ile407Phe)	GALNT3 (I407F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836984	NM_004482.4(GALNT3):c.688+11A>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835142	NM_004482.4(GALNT3):c.1524+19del	GALNT3	Deletion (intron variant)	not provided	GLikely benign
Select item 2834157	NM_004482.4(GALNT3):c.689-2A>G	GALNT3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2832476	NM_004482.4(GALNT3):c.688+18A>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832406	NM_004482.4(GALNT3):c.363T>C (p.Pro121=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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