4124[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	LOC129932697, LOC129932698 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	OR2T27, OR2T29 +655 more	Copy number gain	See cases	GPathogenic
Select item 147507	GRCh38/hg38 1q42.13(chr1:229701073-230284168)x3	GALNT2, LINC01682 +17 more	Copy number gain	See cases	GUncertain significance
Select item 57819	GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3	AGT, ARV1 +66 more	Copy number gain	See cases	GUncertain significance
Select item 2958422	NM_004481.5(GALNT2):c.40C>T (p.Leu14=)	GALNT2, LOC129932743	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1925703	NM_004481.5(GALNT2):c.72C>T (p.Tyr24=)	GALNT2, LOC129932743	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1402540	NM_004481.5(GALNT2):c.73T>G (p.Ser25Ala)	GALNT2, LOC129932743 (S25A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2998094	NM_004481.5(GALNT2):c.89C>T (p.Ala30Val)	GALNT2, LOC129932743 (A30V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2640066	NM_004481.5(GALNT2):c.97G>A (p.Gly33Arg)	GALNT2, LOC129932743 (G33R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2187390	NM_004481.5(GALNT2):c.114C>T (p.Gly38=)	GALNT2, LOC129932743	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2589714	NM_004481.5(GALNT2):c.118G>C (p.Gly40Arg)	GALNT2, LOC129932743 (G40R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2973627	NM_004481.5(GALNT2):c.126+12G>A	GALNT2, LOC129932743	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970958	NM_004481.5(GALNT2):c.126+19C>T	LOC129932743, GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	LOC126806063, LOC126806064 +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2610916	NM_004481.5(GALNT2):c.149C>G (p.Pro50Arg)	GALNT2 (P50R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1913872	NM_004481.5(GALNT2):c.165C>T (p.Asp55=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603649	NM_004481.5(GALNT2):c.170A>G (p.His57Arg)	GALNT2 (H57R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589141	NM_004481.5(GALNT2):c.175A>G (p.Ser59Gly)	GALNT2 (S59G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2106945	NM_004481.5(GALNT2):c.195A>C (p.Ala65=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2318933	NM_004481.5(GALNT2):c.215C>T (p.Pro72Leu)	GALNT2 (P34L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2800587	NM_004481.5(GALNT2):c.220+11G>A	GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2217882	NM_004481.5(GALNT2):c.230G>A (p.Arg77Gln)	GALNT2 (R39Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3007759	NM_004481.5(GALNT2):c.252A>G (p.Glu84=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740067	NM_004481.5(GALNT2):c.285G>A (p.Gly95=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 873547	NM_004481.5(GALNT2):c.296dup (p.Tyr99Ter)	GALNT2 (Y61* +1 more)	Duplication (nonsense)	Congenital disorder of glycosylation, type iit	GPathogenic
Select item 873544	NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)	GALNT2 (F104S +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	GLikely pathogenic
Select item 1598628	NM_004481.5(GALNT2):c.374+10C>G	GALNT2	Single nucleotide variant (intron variant)	GALNT2-related condition +1 more	GBenign/Likely benign
Select item 1600116	NM_004481.5(GALNT2):c.374+11C>A	GALNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 722921	NM_004481.5(GALNT2):c.375-4G>A	GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2460843	NM_004481.5(GALNT2):c.382C>T (p.Arg128Trp)	GALNT2 (R90W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1435685	NM_004481.5(GALNT2):c.383G>A (p.Arg128Gln)	GALNT2 (R128Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2343753	NM_004481.5(GALNT2):c.395G>A (p.Arg132Gln)	GALNT2 (R132Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1545068	NM_004481.5(GALNT2):c.414C>G (p.Thr138=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709527	NM_004481.5(GALNT2):c.449C>T (p.Ser150Leu)	GALNT2 (S112L +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	GUncertain significance
Select item 1565342	NM_004481.5(GALNT2):c.450G>A (p.Ser150=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709528	NM_004481.5(GALNT2):c.460A>T (p.Arg154Trp)	GALNT2 (R116W +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	GUncertain significance
Select item 1987550	NM_004481.5(GALNT2):c.473+18A>G	GALNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1563397	NM_004481.5(GALNT2):c.486A>G (p.Lys162=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1508736	NM_004481.5(GALNT2):c.491C>G (p.Pro164Arg)	GALNT2 (P164R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 769555	NM_004481.5(GALNT2):c.492G>A (p.Pro164=)	GALNT2	Single nucleotide variant (synonymous variant)	GALNT2-related condition +1 more	GBenign
Select item 2481424	NM_004481.5(GALNT2):c.513C>G (p.Ile171Met)	GALNT2 (I133M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339903	NM_004481.5(GALNT2):c.526G>C (p.Asp176His)	GALNT2 (D138H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633199	NM_004481.5(GALNT2):c.542-14T>C	GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987541	NM_004481.5(GALNT2):c.549C>T (p.Asp183=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2230090	NM_004481.5(GALNT2):c.581G>A (p.Arg194Gln)	GALNT2 (R194Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 873546	NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter)	GALNT2 (R200* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type iit +1 more	GPathogenic
Select item 1970501	NM_004481.5(GALNT2):c.608-14A>G	GALNT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1065626	NM_004481.5(GALNT2):c.623G>A (p.Arg208Gln)	GALNT2 (R170Q +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	GLikely pathogenic
Select item 873548	NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)	GALNT2 (R210P +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	GLikely pathogenic
Select item 2891568	NM_004481.5(GALNT2):c.636C>T (p.Ala212=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1101345	NM_004481.5(GALNT2):c.648A>T (p.Gln216His)	GALNT2 (Q178H +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit +1 more	GConflicting classifications of pathogenicity
Select item 1601643	NM_004481.5(GALNT2):c.726G>A (p.Ala242=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2060942	NM_004481.5(GALNT2):c.729+10C>T	GALNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1945170	NM_004481.5(GALNT2):c.729+13G>A	GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960535	NM_004481.5(GALNT2):c.729+20G>T	GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898636	NM_004481.5(GALNT2):c.730-18C>T	GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2145851	NM_004481.5(GALNT2):c.759C>T (p.Ile253=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2442562	NM_004481.5(GALNT2):c.760G>A (p.Asp254Asn)	GALNT2 (D216N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079409	NM_004481.5(GALNT2):c.816C>T (p.Gly272=)	GALNT2	Single nucleotide variant (synonymous variant)	GALNT2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1599844	NM_004481.5(GALNT2):c.825T>C (p.Asp275=)	GALNT2	Single nucleotide variant (synonymous variant)	GALNT2-related condition +1 more	GBenign
Select item 1628908	NM_004481.5(GALNT2):c.858G>A (p.Thr286=)	GALNT2	Single nucleotide variant (synonymous variant)	GALNT2-related condition +1 more	GBenign
Select item 873545	NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter)	GALNT2 (Q289* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type iit	GPathogenic
Select item 1466469	NM_004481.5(GALNT2):c.868A>G (p.Arg290Gly)	GALNT2 (R252G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640067	NM_004481.5(GALNT2):c.894C>T (p.Val298=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524608	NM_004481.5(GALNT2):c.895G>A (p.Ala299Thr)	GALNT2 (A299T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2227009	NM_004481.5(GALNT2):c.905+3A>G	GALNT2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1930770	NM_004481.5(GALNT2):c.906-7T>C	GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950673	NM_004481.5(GALNT2):c.913A>G (p.Met305Val)	GALNT2 (M305V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168379	NM_004481.5(GALNT2):c.941A>C (p.Asp314Ala)	GALNT2 (D276A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2458024	NM_004481.5(GALNT2):c.949T>C (p.Tyr317His)	GALNT2 (Y279H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2050119	NM_004481.5(GALNT2):c.972C>T (p.Tyr324=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2336942	NM_004481.5(GALNT2):c.986A>T (p.Asp329Val)	GALNT2 (D291V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2130335	NM_004481.5(GALNT2):c.987T>C (p.Asp329=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876795	NM_004481.5(GALNT2):c.990G>A (p.Val330=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784974	NM_004481.5(GALNT2):c.1010-8C>T	GALNT2	Single nucleotide variant (intron variant)	GALNT2-related condition +1 more	GBenign/Likely benign
Select item 2986263	NM_004481.5(GALNT2):c.1010-7G>A	GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725267	NM_004481.5(GALNT2):c.1010-4T>C	GALNT2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1711244	NM_004481.5(GALNT2):c.1076A>G (p.His359Arg)	GALNT2 (H321R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785954	NM_004481.5(GALNT2):c.1077C>T (p.His359=)	GALNT2	Single nucleotide variant (synonymous variant)	GALNT2-related condition +2 more	GBenign/Likely benign
Select item 722922	NM_004481.5(GALNT2):c.1104G>A (p.Thr368=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2899965	NM_004481.5(GALNT2):c.1110G>A (p.Pro370=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900802	NM_004481.5(GALNT2):c.1136+9T>G	GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949717	NM_004481.5(GALNT2):c.1137-14T>G	GALNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935549	NM_004481.5(GALNT2):c.1211G>T (p.Arg404Ile)	GALNT2 (R404I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042291	NM_004481.5(GALNT2):c.1278C>T (p.Phe426=)	GALNT2	Single nucleotide variant (synonymous variant)	GALNT2-related condition	GLikely benign
Select item 2154746	NM_004481.5(GALNT2):c.1281A>G (p.Lys427=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817086	NM_004481.5(GALNT2):c.1293A>G (p.Glu431=)	GALNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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