"PreventionGenetics, part of Exact Sciences"[submitter] AND "MAN1B1"[g - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 588085	NM_016219.5(MAN1B1):c.120GCC[6] (p.Pro45dup)	LOC130003078, MAN1B1	Microsatellite (inframe_insertion +1 more)	MAN1B1-related disorder +2 more	GLikely benign
Select item 588081	NM_016219.5(MAN1B1):c.272C>T (p.Ala91Val)	MAN1B1 (A91V)	Single nucleotide variant (missense variant +1 more)	MAN1B1-related disorder +3 more	GLikely benign
Select item 445844	NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu)	MAN1B1 (F113L)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome +4 more	GConflicting classifications of pathogenicity
Select item 129579	NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)	MAN1B1 (V135I)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome +3 more	GBenign/Likely benign
Select item 2143399	NM_016219.5(MAN1B1):c.620+10G>A	MAN1B1	Single nucleotide variant (intron variant)	MAN1B1-related disorder +1 more	GBenign/Likely benign
Select item 211430	NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)	MAN1B1 (V212G)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 435803	NM_016219.5(MAN1B1):c.639C>T (p.Ile213=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	MAN1B1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 800258	NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)	MAN1B1 (P236L)	Single nucleotide variant (missense variant +1 more)	MAN1B1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3047561	NM_016219.5(MAN1B1):c.772C>T (p.Leu258=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	MAN1B1-related disorder	GLikely benign
Select item 365956	NM_016219.5(MAN1B1):c.780A>G (p.Ala260=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	MAN1B1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3034572	NM_016219.5(MAN1B1):c.1255-4G>T	MAN1B1	Single nucleotide variant (intron variant)	MAN1B1-related disorder	GLikely benign
Select item 2053768	NM_016219.5(MAN1B1):c.1377C>T (p.Gly459=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	MAN1B1-related disorder +1 more	GLikely benign
Select item 211420	NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)	MAN1B1 (K478R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 435809	NM_016219.5(MAN1B1):c.1764+9G>C	MAN1B1	Single nucleotide variant (intron variant)	MAN1B1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2919141	NM_016219.5(MAN1B1):c.1896+8C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome +1 more	GLikely benign
Select item 129576	NM_016219.5(MAN1B1):c.1932C>T (p.Val644=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome +4 more	GBenign/Likely benign
Select item 129571	NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)	MAN1B1 (D674N)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome +3 more	GConflicting classifications of pathogenicity