Related gene-specific medical variations for Gene (Select 2590) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3098160	NM_004481.5(GALNT2):c.94G>T (p.Ala32Ser)	GALNT2, LOC129932743 (A32S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
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 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	GALNT2, LOC129932743	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958422	NM_004481.5(GALNT2):c.40C>T (p.Leu14=)	GALNT2, LOC129932743	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 2442077	NM_004481.5(GALNT2):c.1372G>A (p.Asp458Asn)	GALNT2 (D420N +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	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 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 979938	GRCh37/hg19 1q42.13(chr1:230007179-230312334)x3	GALNT2	Copy number gain	not provided	GLikely benign