"Counsyl"[submitter] AND "LOC130063650"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371058	NM_000528.4(MAN2B1):c.93dup (p.Leu32fs)	LOC130063650, MAN2B1 (L32fs)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 370845	NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)	LOC130063650, MAN2B1 (A19fs)	Insertion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 557661	NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr)	LOC130063650, MAN2B1 (M1T)	Single nucleotide variant (missense variant +1 more)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 554992	NM_000528.4(MAN2B1):c.1_2del (p.Met1fs)	MAN2B1, LOC130063650 (M1fs)	Deletion (frameshift variant +1 more)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 554252	NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys)	LOC130063650, MAN2B1 (M1K)	Single nucleotide variant (missense variant +1 more)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 552583	NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu)	LOC130063650, MAN2B1 (M1L)	Single nucleotide variant (missense variant +1 more)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 552407	NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu)	LOC130063650, MAN2B1 (M1L)	Single nucleotide variant (missense variant +1 more)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 552319	NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)	LOC130063650, MAN2B1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 328284	NM_000528.4(MAN2B1):c.-19A>G	LOC130063650, MAN2B1	Single nucleotide variant (5 prime UTR variant)	Deficiency of alpha-mannosidase	GUncertain significance