"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1714489	NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met)	LOC130063648, MAN2B1 (L913M +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2864683	NM_000528.4(MAN2B1):c.2692_2737del (p.Pro898fs)	LOC130063648, MAN2B1 (P897fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 1442635	NM_000528.4(MAN2B1):c.2737G>A (p.Val913Met)	LOC130063648, MAN2B1 (V912M +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2995667	NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile)	LOC130063648, MAN2B1 (M912I +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 890571	NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)	LOC130063648, MAN2B1 (E910K +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2968932	NM_000528.4(MAN2B1):c.2730C>G (p.Pro910=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2745664	NM_000528.4(MAN2B1):c.2730C>A (p.Pro910=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1473514	NM_000528.4(MAN2B1):c.2726G>A (p.Gly909Asp)	LOC130063648, MAN2B1 (G908D +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 839971	NM_000528.4(MAN2B1):c.2437-300_2719del	LOC130063648, LOC130063649 +1 more	Deletion (splice acceptor variant +1 more)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1558700	NM_000528.4(MAN2B1):c.2718C>T (p.Ala906=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1609998	NM_000528.4(MAN2B1):c.2712G>C (p.Thr904=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1562094	NM_000528.4(MAN2B1):c.2712G>A (p.Thr904=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2996910	NM_000528.4(MAN2B1):c.2704C>T (p.Leu902=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1395487	NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val)	LOC130063648, MAN2B1 (L901V +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2789726	NM_000528.4(MAN2B1):c.2703C>T (p.His901=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 328255	NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)	LOC130063648, MAN2B1 (H901N +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GUncertain significance
Select item 1642763	NM_000528.4(MAN2B1):c.2700G>T (p.Val900=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2038024	NM_000528.4(MAN2B1):c.2697G>A (p.Ser899=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1539289	NM_000528.4(MAN2B1):c.2697G>C (p.Ser899=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1901975	NM_000528.4(MAN2B1):c.2696C>T (p.Ser899Leu)	LOC130063648, MAN2B1 (S899L +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 370174	NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)	LOC130063648, MAN2B1 (S899* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 2755753	NM_000528.4(MAN2B1):c.2694C>G (p.Pro898=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1146971	NM_000528.4(MAN2B1):c.2694C>T (p.Pro898=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2859757	NM_000528.4(MAN2B1):c.2691G>T (p.Pro897=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1104262	NM_000528.4(MAN2B1):c.2691G>A (p.Pro897=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2044507	NM_000528.4(MAN2B1):c.2690C>T (p.Pro897Leu)	LOC130063648, MAN2B1 (P896L +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1131657	NM_000528.4(MAN2B1):c.2686C>T (p.Leu896=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1597995	NM_000528.4(MAN2B1):c.2685C>T (p.Asp895=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1943953	NM_000528.4(MAN2B1):c.2680A>G (p.Arg894Gly)	MAN2B1, LOC130063648 (R893G +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1153393	NM_000528.4(MAN2B1):c.2679C>A (p.Arg893=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1915843	NM_000528.4(MAN2B1):c.2678G>A (p.Arg893His)	LOC130063648, MAN2B1 (R892H +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance

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Items: 31