LOC112272617[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	LOC121530589, LOC121530590 +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	LOC130057507, LOC130057508 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	ADPGK, ADPGK-AS1 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 58080	GRCh38/hg38 15q24.2(chr15:75336215-75658670)x3	COMMD4, IMP3 +29 more	Copy number gain	See cases	GPathogenic
Select item 1687395	NM_006715.4(MAN2C1):c.52_54del (p.Glu18del)	LOC112272617, MAN2C1 (E18del)	Deletion (inframe_deletion)	Congenital disorder of deglycosylation 2	GUncertain significance
Select item 2300820	NM_006715.4(MAN2C1):c.49G>C (p.Val17Leu)	LOC112272617, MAN2C1 (V17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368949	NM_006715.4(MAN2C1):c.47G>A (p.Arg16Gln)	LOC112272617, MAN2C1 (R16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330635	NM_006715.4(MAN2C1):c.27C>G (p.His9Gln)	LOC112272617, MAN2C1 (H9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375766	NM_006715.4(MAN2C1):c.11C>T (p.Ala4Val)	LOC112272617, MAN2C1 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance