LOC130057537[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 3049304	NM_003612.5(SEMA7A):c.168C>G (p.Ala56=)	LOC130057537, SEMA7A	Single nucleotide variant (synonymous variant)	SEMA7A-related disorder	GLikely benign
Select item 3047754	NM_003612.5(SEMA7A):c.144A>T (p.Leu48=)	LOC130057537, SEMA7A	Single nucleotide variant (synonymous variant)	SEMA7A-related disorder	GLikely benign
Select item 2335465	NM_003612.5(SEMA7A):c.62C>T (p.Pro21Leu)	LOC130057537, SEMA7A (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159929	NM_003612.5(SEMA7A):c.14C>T (p.Pro5Leu)	LOC130057537, SEMA7A (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance