"GeneDx"[submitter] AND "LMAN1"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 1183567	NM_005570.4(LMAN1):c.1375-130G>A	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231907	NM_005570.4(LMAN1):c.1374+282C>T	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261303	NM_005570.4(LMAN1):c.1374+49A>G	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259793	NM_005570.4(LMAN1):c.1374+20C>T	LMAN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 259792	NM_005570.4(LMAN1):c.1228A>T (p.Met410Leu)	LMAN1 (M410L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1236300	NM_005570.4(LMAN1):c.1221-43del	LMAN1	Deletion (intron variant)	not provided	GBenign
Select item 1244869	NM_005570.4(LMAN1):c.1220+134A>G	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274692	NM_005570.4(LMAN1):c.1220+50A>T	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295086	NM_005570.4(LMAN1):c.823-161_823-159del	LMAN1	Deletion (intron variant)	not provided	GBenign
Select item 1279380	NM_005570.4(LMAN1):c.823-159del	LMAN1	Deletion (intron variant)	not provided	GBenign
Select item 1295648	NM_005570.4(LMAN1):c.823-199C>T	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278837	NM_005570.4(LMAN1):c.823-326A>G	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287747	NM_005570.4(LMAN1):c.822+249T>A	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295644	NM_005570.4(LMAN1):c.822+244T>A	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253025	NM_005570.4(LMAN1):c.822+40_822+41insTGGT	LMAN1	Insertion (intron variant)	not provided	GBenign
Select item 1240663	NM_005570.4(LMAN1):c.822+32C>A	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271589	NM_005570.4(LMAN1):c.764-21dup	LMAN1	Duplication (intron variant)	not provided	GBenign
Select item 1287935	NM_005570.4(LMAN1):c.764-86A>G	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246951	NM_005570.4(LMAN1):c.640-142A>G	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282720	NM_005570.4(LMAN1):c.539+273T>A	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280896	NM_005570.4(LMAN1):c.539+202C>A	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259797	NM_005570.4(LMAN1):c.539+5GT[3]	LMAN1	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1249825	NM_005570.4(LMAN1):c.477+342C>G	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259795	NM_005570.4(LMAN1):c.351A>G (p.Arg117=)	LMAN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1233753	NM_005570.4(LMAN1):c.214+168G>A	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259791	NM_005570.4(LMAN1):c.116T>C (p.Val39Ala)	LMAN1, LOC130062607 (V39A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1220922	NC_000018.10:g.59359346dup	LMAN1, LOC130062608	Duplication	not provided	GBenign
Select item 1241696	NC_000018.10:g.59359441T>G	LMAN1, LOC130062608	Single nucleotide variant	not provided	GBenign
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 32