"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2901957	NM_005908.4(MANBA):c.177+20C>T	LOC129992886, MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2874138	NM_005908.4(MANBA):c.177+19C>G	LOC129992886, MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2771561	NM_005908.4(MANBA):c.177+19C>A	LOC129992886, MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2759158	NM_005908.4(MANBA):c.177+18C>T	LOC129992886, MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2867244	NM_005908.4(MANBA):c.177+14C>A	LOC129992886, MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2001895	NM_005908.4(MANBA):c.177+12G>C	LOC129992886, MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2864007	NM_005908.4(MANBA):c.177+7C>G	LOC129992886, MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2802852	NM_005908.4(MANBA):c.177+7C>A	LOC129992886, MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2106505	NM_005908.4(MANBA):c.177+4T>A	LOC129992886, MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GUncertain significance
Select item 1462448	NM_005908.4(MANBA):c.177+4T>C	LOC129992886, MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GUncertain significance
Select item 1424680	NM_005908.4(MANBA):c.177+3A>G	MANBA, LOC129992886	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GUncertain significance
Select item 2959250	NM_005908.4(MANBA):c.169C>T (p.Leu57=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 1397657	NM_005908.4(MANBA):c.169C>A (p.Leu57Met)	LOC129992886, MANBA (L57M)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 1121223	NM_005908.4(MANBA):c.168C>T (p.Gly56=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 1311852	NM_005908.4(MANBA):c.163C>G (p.Gln55Glu)	LOC129992886, MANBA (Q55E)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis +1 more	GUncertain significance
Select item 2753991	NM_005908.4(MANBA):c.162G>A (p.Gln54=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2833062	NM_005908.4(MANBA):c.135T>G (p.Pro45=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2770192	NM_005908.4(MANBA):c.132C>T (p.Val44=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 475411	NM_005908.4(MANBA):c.130G>A (p.Val44Ile)	LOC129992886, MANBA (V44I)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 2168235	NM_005908.4(MANBA):c.126G>A (p.Gly42=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 1418128	NM_005908.4(MANBA):c.124G>A (p.Gly42Arg)	LOC129992886, MANBA (G42R)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis +1 more	GUncertain significance
Select item 1602051	NM_005908.4(MANBA):c.123C>A (p.Pro41=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 3023743	NM_005908.4(MANBA):c.120G>A (p.Leu40=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 1995347	NM_005908.4(MANBA):c.-13_112del (p.Met1fs)	LOC129992886, MANBA (M1fs)	Deletion (frameshift variant +1 more)	Beta-D-mannosidosis	GUncertain significance
Select item 901456	NM_005908.4(MANBA):c.111G>T (p.Ser37=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GConflicting classifications of pathogenicity
Select item 2112587	NM_005908.4(MANBA):c.110C>T (p.Ser37Leu)	LOC129992886, MANBA (S37L)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 2202848	NM_005908.4(MANBA):c.106G>A (p.Gly36Ser)	LOC129992886, MANBA (G36S)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 2911924	NM_005908.4(MANBA):c.102G>C (p.Gly34=)	MANBA, LOC129992886	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2731852	NM_005908.4(MANBA):c.102G>A (p.Gly34=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2830369	NM_005908.4(MANBA):c.84C>T (p.Asn28=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2014751	NM_005908.4(MANBA):c.80G>A (p.Gly27Asp)	LOC129992886, MANBA (G27D)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 2142091	NM_005908.4(MANBA):c.63_64del (p.Ser22fs)	LOC129992886, MANBA (S22fs)	Deletion (frameshift variant)	Beta-D-mannosidosis	GPathogenic
Select item 1443433	NM_005908.4(MANBA):c.61C>T (p.Leu21Phe)	LOC129992886, MANBA (L21F)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 720189	NM_005908.4(MANBA):c.57G>C (p.Ala19=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957738	NM_005908.4(MANBA):c.55G>A (p.Ala19Thr)	LOC129992886, MANBA (A19T)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 2846507	NM_005908.4(MANBA):c.54C>T (p.Ala18=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2835379	NM_005908.4(MANBA):c.54C>A (p.Ala18=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2803414	NM_005908.4(MANBA):c.51C>A (p.Thr17=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2708939	NM_005908.4(MANBA):c.51C>T (p.Thr17=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 1434532	NM_005908.4(MANBA):c.50C>T (p.Thr17Ile)	MANBA, LOC129992886 (T17I)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 2036604	NM_005908.4(MANBA):c.42A>G (p.Ala14=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2754802	NM_005908.4(MANBA):c.39T>G (p.Gly13=)	MANBA, LOC129992886	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 1997022	NM_005908.4(MANBA):c.37G>A (p.Gly13Ser)	LOC129992886, MANBA (G13S)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 2761998	NM_005908.4(MANBA):c.33G>A (p.Leu11=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2799596	NM_005908.4(MANBA):c.30G>A (p.Ala10=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2864677	NM_005908.4(MANBA):c.27C>A (p.Leu9=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 3016930	NM_005908.4(MANBA):c.15G>C (p.Leu5=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2827263	NM_005908.4(MANBA):c.15G>A (p.Leu5=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2782213	NM_005908.4(MANBA):c.13C>T (p.Leu5=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 1608138	NM_005908.4(MANBA):c.12C>T (p.His4=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2194533	NM_005908.4(MANBA):c.10C>T (p.His4Tyr)	LOC129992886, MANBA (H4Y)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 2199140	NM_005908.4(MANBA):c.9C>T (p.Leu3=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign

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Items: 52