ClinVar for OMIM (Select 111400) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39437	NM_017436.7(A4GALT):c.631C>G (p.Gln211Glu)	A4GALT (Q211E)	Single nucleotide variant (missense variant)	NOR polyagglutination syndrome	GPathogenic
Select item 39436	NM_017436.7(A4GALT):c.42C>T (p.Gly14=)	A4GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 6636	NM_003781.4(B3GALNT1):c.797A>C (p.Glu266Ala)	B3GALNT1 (E266A +1 more)	Single nucleotide variant (missense variant)	p phenotype	GAffects
Select item 6635	NM_003781.4(B3GALNT1):c.811G>A (p.Gly271Arg)	B3GALNT1 (G271R +1 more)	Single nucleotide variant (missense variant)	p phenotype	GAffects
Select item 6634	NM_003781.4(B3GALNT1):c.537dup (p.Asp180fs)	B3GALNT1 (D180fs +1 more)	Duplication (frameshift variant)	p phenotype	GAffects
Select item 6633	NM_003781.4(B3GALNT1):c.202C>T (p.Arg68Ter)	B3GALNT1 (R188* +1 more)	Single nucleotide variant (nonsense)	p phenotype	GAffects
Select item 2697	NM_017436.7(A4GALT):c.1029dup (p.Thr344fs)	A4GALT (T344fs)	Duplication (frameshift variant)	p phenotype	GAffects
Select item 2696	NM_017436.7(A4GALT):c.238TTC[1] (p.Phe81del)	A4GALT (F81del)	Microsatellite (inframe_deletion)	p phenotype	GAffects
Select item 2695	NM_017436.7(A4GALT):c.560G>A (p.Gly187Asp)	A4GALT (G187D)	Single nucleotide variant (missense variant)	p phenotype	GAffects
Select item 2694	NM_017436.7(A4GALT):c.783G>A (p.Trp261Ter)	A4GALT (W261*)	Single nucleotide variant (nonsense)	p phenotype	GAffects
Select item 2693	NM_017436.7(A4GALT):c.752C>T (p.Pro251Leu)	A4GALT (P251L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692	NM_017436.7(A4GALT):c.548T>A (p.Met183Lys)	A4GALT (M183K)	Single nucleotide variant (missense variant)	p phenotype	GAffects