"GeneDx"[submitter] AND "LOC129999737"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	RBM33, RBM33-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 1262170	NM_005515.4(MNX1):c.-285C>G	LOC129999737, MNX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1258687	NM_005515.4(MNX1):c.-293C>G	LOC129999737, MNX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1226485	NC_000007.14:g.157010742C>T	LOC129999737, MNX1	Single nucleotide variant	not provided	GBenign
Select item 1247484	NR_038835.1(MNX1-AS1):n.11del	LOC129999737, MNX1 +1 more	Deletion (non-coding transcript variant)	not provided	GBenign