"PreventionGenetics, part of Exact Sciences"[submitter] AND "LMAN1"[ge - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259794	NM_005570.4(LMAN1):c.1461G>A (p.Val487=)	LMAN1	Single nucleotide variant (synonymous variant)	not specified	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 8065	NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer)	LMAN1	Deletion (frameshift variant)	LMAN1-related disorder	GPathogenic
Select item 259792	NM_005570.4(LMAN1):c.1228A>T (p.Met410Leu)	LMAN1 (M410L)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1 +2 more	GBenign
Select item 327570	NM_005570.4(LMAN1):c.1221-4T>C	LMAN1	Single nucleotide variant (intron variant)	Factor V and factor VIII, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 327571	NM_005570.4(LMAN1):c.1050G>T (p.Arg350=)	LMAN1	Single nucleotide variant (synonymous variant)	Factor V and factor VIII, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2635026	NM_005570.4(LMAN1):c.877T>A (p.Phe293Ile)	LMAN1 (F293I)	Single nucleotide variant (missense variant)	LMAN1-related disorder	GUncertain significance
Select item 3048044	NM_005570.4(LMAN1):c.764-11_764-10dup	LMAN1	Duplication (intron variant)	LMAN1-related disorder	GLikely benign
Select item 3044218	NM_005570.4(LMAN1):c.764-11_764-10del	LMAN1	Deletion (intron variant)	LMAN1-related disorder	GLikely benign
Select item 3040905	NM_005570.4(LMAN1):c.605G>A (p.Arg202Gln)	LMAN1 (R202Q)	Single nucleotide variant (missense variant)	LMAN1-related disorder	GLikely benign
Select item 259797	NM_005570.4(LMAN1):c.539+5GT[3]	LMAN1	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2634115	NM_005570.4(LMAN1):c.477+3A>G	LMAN1	Single nucleotide variant (intron variant)	LMAN1-related disorder	GUncertain significance
Select item 259796	NM_005570.4(LMAN1):c.399G>A (p.Leu133=)	LMAN1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 259795	NM_005570.4(LMAN1):c.351A>G (p.Arg117=)	LMAN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 259791	NM_005570.4(LMAN1):c.116T>C (p.Val39Ala)	LMAN1, LOC130062607 (V39A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 327580	NM_005570.4(LMAN1):c.27C>G (p.Leu9=)	LMAN1, LOC130062607	Single nucleotide variant (synonymous variant)	Factor V and factor VIII, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity